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Gene: Ror2 MGI:1347521

Gene Summary

Name:

receptor tyrosine kinase-like orphan receptor 2

Synonyms:

Ntrkr2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal vitreous body morphology	Ror2^em1(IMPC)Mbp	HET	Early adult	2.06×10^-07
abnormal tail morphology	Ror2^em1(IMPC)Mbp	HOM	E15.5	0.00
cleft palate	Ror2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal limb morphology	Ror2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal retina vasculature morphology	Ror2^em1(IMPC)Mbp	HET	Early adult	1.57×10^-05
abnormal placenta morphology	Ror2^em1(IMPC)Mbp	HOM	E15.5	0.00
persistence of hyaloid vascular system	Ror2^em1(IMPC)Mbp	HET	Early adult	1.83×10^-06
abnormal placenta vasculature	Ror2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Ror2^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Ror2^em1(IMPC)Mbp	HOM	E15.5	0.00
cataract	Ror2^em1(IMPC)Mbp	HET	Early adult	2.08×10^-07
polydactyly	Ror2^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Ror2^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E14.5-E15.5

Images

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Ror2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ror2 (3 diseases)
Human diseases predicted to be associated with Ror2 (3117 diseases)

The table below shows human diseases associated to Ror2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Clitoral hy...	OMIM:268310
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu...	ORPHA:1507
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000

The table below shows human diseases predicted to be associated to Ror2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip...	ORPHA:166016
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae...	OMIM:118651
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Dep...	ORPHA:2831
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ...	ORPHA:1837
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Sprengel anomaly, Vertebral segmentation defect, Aplasi...	ORPHA:1988
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperl...	ORPHA:40
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat...	OMIM:108720
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M...	OMIM:227270
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat...	OMIM:164745
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Elbow dislocation,...	OMIM:171480
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Temporomandibular joint...	OMIM:164900
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac...	ORPHA:3314
Cleidorhizomelic Syndrome	Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl...	ORPHA:1453
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas...	ORPHA:1788
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Contract...	OMIM:616716
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Th...	OMIM:618395
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar crease, Micrognathia,...	OMIM:201170
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in...	OMIM:256050
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Nar...	OMIM:249600
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Single t...	OMIM:210600
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Reduced bone mineral densi...	ORPHA:2370
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Pectus ca...	ORPHA:958
Acromicric Dysplasia	Short metacarpal, Brachydactyly, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Narro...	ORPHA:969
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Su...	OMIM:222765
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Narrow chest, Sho...	ORPHA:56304
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot olig...	ORPHA:3258
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Spondylometaphyseal Dysplasia, Corner Fracture Type	Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon...	OMIM:184255
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Kyphosi...	OMIM:180870
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Conductive hearing impa...	OMIM:617877
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp...	OMIM:201000
Campomelic Dysplasia	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:140
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso...	ORPHA:94068
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Radioulnar synostosis, Prominent nose, Dislocated radial head	OMIM:266255
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Hypoplasia of the ulna, Syndactyly, Broad hallux, Micrognathia...	OMIM:212780
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers...	ORPHA:2639
Dysspondyloenchondromatosis	Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m...	ORPHA:85198
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate...	OMIM:268305
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased intervertebral space, Thoracic...	OMIM:618961
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda...	OMIM:300484
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso...	OMIM:611209
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Multiple prenatal fractures, Short neck, Beaded ribs, Flexion contractu...	OMIM:616897
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology...	ORPHA:2633
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathi...	OMIM:619135
Orofaciodigital Syndrome Type 10	Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Abnormality of the v...	ORPHA:294975
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi...	ORPHA:166272
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnorma...	ORPHA:3098
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas...	OMIM:132400
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Van Bogaert-Hozay Syndrome	Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth malp...	OMIM:277150
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve...	ORPHA:2631
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme...	ORPHA:2635
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti...	ORPHA:1801
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Rib fusion, Short r...	OMIM:173800
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Convex nasal ...	ORPHA:1277
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A...	OMIM:600373
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Clitoral hy...	OMIM:268310
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow...	OMIM:184260
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lo...	OMIM:102370
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Apl...	OMIM:146000
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,...	OMIM:300577
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi...	OMIM:614078
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Tetrasomy X	Abnormality of the dentition, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clino...	ORPHA:9
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Shallow orb...	OMIM:608328
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno...	OMIM:251230
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar disl...	ORPHA:93328
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid...	OMIM:620076
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno...	OMIM:619451
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu...	ORPHA:1507
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis o...	ORPHA:2557
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Joint stiffness, Symphalangism affecting the phalange...	ORPHA:3237
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Hall-Riggs Syndrome	Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nose, Kyphosis, Thick ...	OMIM:234250
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Hypoplasia of the ulna, Wide nose, Micrognathia, Everted lower lip verm...	ORPHA:357175
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow pala...	OMIM:600920
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Hypoplasia of the ulna, Wide nose, Micrognathia, Downturned corners of ...	OMIM:615162
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad skull, Brachycephaly, Shallow orbits, Broad ribs, Broad metacarp...	OMIM:277600
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop...	ORPHA:1860
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti...	OMIM:155050
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Acrocephalopolydactyly	Genu recurvatum, Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose...	ORPHA:221054
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Convex nasal ridge	OMIM:218650
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Entropion, Hypospadias, Prominent nasal bridge, Trichiasis, Micrognathia, Sparse...	OMIM:609944
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte...	ORPHA:2311
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow...	OMIM:619297
Ruvalcaba Syndrome	Micromelia, Proximal placement of thumb, Pectus carinatum, Narrow chest, Clinodactyly of the 5th ...	ORPHA:3121
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Accelerated skele...	ORPHA:439822
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Narrow che...	ORPHA:163649
Acromegaloid Facial Appearance Syndrome	Telecanthus, Joint hypermobility, Highly arched eyebrow, Tapered finger, Micrognathia, Large for ...	OMIM:102150
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches...	OMIM:616300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate...	OMIM:617925
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Anteverted nares, Short neck, Kyphosis, Cone-shaped epiphyse...	ORPHA:420794
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn...	ORPHA:2319
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Pectus excavatum, Delayed epiphyseal ossification, Clinodactyly, Wide nasal bridge, Genu valgum, ...	ORPHA:166024
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Hypot...	OMIM:614701
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hypospadias, Anteverted nares, Depres...	OMIM:614613
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Depresse...	OMIM:151210
Alagille Syndrome	Micrognathia, Long nose, Brachycephaly, Abnormal form of the vertebral bodies, Protruding ear, De...	ORPHA:52
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva...	OMIM:269250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Eng-Strom Syndrome	Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Brachydactyly	ORPHA:1937
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, High pa...	ORPHA:217340
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ...	ORPHA:2990
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Pulmonary valve atresi...	ORPHA:97360
Cataract 35	Cataract	OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 36	Cataract	OMIM:613887
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Short neck, Underdeveloped tragus, Primary microceph...	OMIM:618804
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Trichorhinophalangeal Syndrome, Type Iii	Short palm, Thin upper lip vermilion, Short metacarpal, Osteopenia, Dental crowding, Underdevelop...	OMIM:190351
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow exten...	ORPHA:156728
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa...	OMIM:215140
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Shox-Related Short Stature	Micrognathia, Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valgum, High palate...	ORPHA:314795
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis...	ORPHA:628
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee fl...	OMIM:601559
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Short humerus, Short femur, Sandal gap, Rhizomelia, Wide nose, Hypoplas...	OMIM:607143
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T...	OMIM:300863
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of...	ORPHA:370010
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, S...	OMIM:618392
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po...	OMIM:617927
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip dislocation, Fibu...	OMIM:605274
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
W Syndrome	Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Depressed nasal bridge, Broad nas...	ORPHA:2804
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Enlarged thorax, Deeply set eye, High pala...	ORPHA:251071
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl...	OMIM:156510
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Chromosome 9P Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ...	OMIM:158170
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Meier-Gorlin Syndrome 6	Decreased response to growth hormone stimulation test, Depressed nasal ridge, Microretrognathia, ...	OMIM:616835
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split...	OMIM:200980
Fetal Trimethadione Syndrome	Ambiguous genitalia, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia...	ORPHA:1913
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm...	ORPHA:1354
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Deep philtrum, Delayed epiphyseal ossification, Narrow chest, Death in ch...	OMIM:613320
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate...	OMIM:618363
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Cleft upper lip,...	OMIM:263750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ea...	ORPHA:192
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	High palate, Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology	ORPHA:2233
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Micrognathia...	OMIM:258860
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Paternal Uniparental Disomy Of Chromosome X	Short metacarpal, Short neck, Shield chest, Infertility, Cubitus valgus, Micropenis, Decreased te...	ORPHA:261524
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Depressed nasal bridge, Joint hypermobility, Thora...	OMIM:618853
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress...	OMIM:616809
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Micrognathia, Joint stiffness, Pectus excavatum, Radi...	ORPHA:1388
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Depressed nasal bridge, Micrognathia, Limi...	OMIM:258315
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax...	ORPHA:163654
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p...	OMIM:616145
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Cataract	OMIM:300719
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Sco...	OMIM:601357
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat...	OMIM:208500
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl...	ORPHA:916
Orofaciodigital Syndrome Ix	Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Broad na...	OMIM:258865
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Barrel-shape...	OMIM:239000
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Advanced eruption of te...	ORPHA:949
Fibrochondrogenesis 2	Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w...	OMIM:614524
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat...	OMIM:108721
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ...	OMIM:615398
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape...	OMIM:271665
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor...	ORPHA:2900
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Fle...	ORPHA:263463
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Kniest Dysplasia	Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti...	OMIM:156550
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ...	OMIM:619110
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Joint stiffness, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Limitation of joint mobili...	ORPHA:376
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Pro...	ORPHA:90650
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis...	ORPHA:2619
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, D...	OMIM:134780
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra...	OMIM:314390
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Otoonychoperoneal Syndrome	Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contra...	OMIM:259780
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Narrow ch...	OMIM:218330
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Narrow nasal bridge, Mandibular prognathia, Brachydactyly, Bilateral single transverse palmar cre...	ORPHA:2511
Codas Syndrome	Congenital hip dislocation, Abnormal form of the vertebral bodies, Short metacarpal, Anteverted n...	ORPHA:1458
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Absent thumb, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ...	OMIM:212720
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Inguinal hernia, Epicanthus, Telecanthus, Wide nose, Lacrimation abnormality, ...	ORPHA:1252
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thor...	ORPHA:1797
Wiedemann-Steiner Syndrome	Micrognathia, Accelerated skeletal maturation, Synophrys, Clinodactyly of the 5th finger, Short p...	OMIM:605130
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi...	OMIM:114300
C Syndrome	Micromelia, Micrognathia, Clinodactyly, Dislocated radial head, Short metacarpal, Anteverted nare...	OMIM:211750
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Boomerang Dysplasia	Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti...	OMIM:112310
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form o...	ORPHA:73230
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Barr...	OMIM:607095
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph...	OMIM:101800
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi...	ORPHA:1278
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Cranio...	ORPHA:93329
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly o...	ORPHA:1520
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metatarsal, Widely spaced teeth, Narrow chest, Short phalanx of finge...	OMIM:617102
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Barrel-shaped chest, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short...	OMIM:612813
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridge, Short thumb, P...	OMIM:165800
Phocomelia, Schinzel Type	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Foot oligod...	ORPHA:2879
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Kbg Syndrome	Single transverse palmar crease, Short neck, Epispadias, Synophrys, Thoracic kyphosis, Short palm...	OMIM:148050
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Single transverse palmar crease, Premature thelarche, Micr...	OMIM:180849
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem...	OMIM:213980
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ...	ORPHA:2107
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Pallister-Hall Syndrome	Hemivertebrae, Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Micropenis, Distal...	OMIM:146510
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,...	OMIM:218600
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta...	OMIM:619636
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Brachycephaly, Abnormal form of the vertebral bodies, Pe...	ORPHA:1327
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Ververi-Brady Syndrome	Smooth philtrum, Thin upper lip vermilion, Wide nose, Broad nasal tip, Prominent nose, Microcepha...	OMIM:617982
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Short metacarpal, Anteverted nares, Single transverse...	OMIM:616651
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Emery-Nelson Syndrome	Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb...	ORPHA:1927
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Di...	ORPHA:1513
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Entropion, Failure to thrive, Kyphoscoliosi...	OMIM:617403
Verheij Syndrome	Branchial cyst, Short neck, Hemivertebrae, Joint laxity, Vertebral fusion, Anteverted nares, Wide...	OMIM:615583
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Epicanthus, Camptodactyly of finger, Prominent nasal bridge,...	ORPHA:3409
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Aminopterin Syndrome Sine Aminopterin	Thoracic scoliosis, Micrognathia, Brachycephaly, Oligodontia, High palate, Syndactyly, Rudimentar...	OMIM:600325
Nicolaides-Baraitser Syndrome	Joint dislocation, Accelerated skeletal maturation, Abnormal finger morphology, Hernia, Short pal...	ORPHA:3051
Wiedemann-Rautenstrauch Syndrome	Short neck, Micrognathia, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum...	OMIM:264090
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Restrictive Dermopathy 1	Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Hypospadias, Dep...	OMIM:275210
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Moebius Syndrome	Abnormal nasopharynx morphology, Short neck, Micrognathia, Congenital fibrosis of extraocular mus...	OMIM:157900
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Micrognathia, Abnormal...	ORPHA:93299
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Short neck, Hypertelorism, Cryptorchidism, Bulbous nose,...	OMIM:616789
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Kbg Syndrome	Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Congenital malf...	ORPHA:2332
Desbuquois Syndrome	Genu recurvatum, Camptodactyly of finger, Anteverted nares, Coxa valga, Elbow dislocation, Short ...	ORPHA:1425
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn...	ORPHA:177
Arthrogryposis, Distal, Type 2B2	Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ...	OMIM:616331
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology	ORPHA:93283
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Microretrognathia, Joint...	OMIM:618870
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Narrow chest...	ORPHA:1423
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Beaking of vertebral bodies, Mandibular prognathia, Genu recurvatum, C...	ORPHA:137834
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta...	OMIM:182212
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
X-Linked Retinoschisis	Retinoschisis, Cataract	ORPHA:792
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short t...	ORPHA:93298
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Micrognathia, Micr...	ORPHA:1926
Dysostosis, Stanescu Type	Micromelia, Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Abnormal denta...	ORPHA:1798
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Hypo...	ORPHA:2980
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B...	OMIM:615222
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, K...	OMIM:615777
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Opsismodysplasia	Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Pectus ex...	ORPHA:2746
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Pierpont Syndrome	Short neck, Widely spaced teeth, Short palm, Prominent fingertip pads, Prominent subcalcaneal fat...	OMIM:602342
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Micrognathia, F...	ORPHA:319195
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening...	OMIM:223200
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,...	ORPHA:85166
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Epicanthus, Vaginal hernia, Lacrimation abnormality, Abn...	ORPHA:2916
Keipert Syndrome	Joint laxity, Wide nose, Broad hallux, Exaggerated cupid's bow, Prominent nose, Downturned corner...	OMIM:301026
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu...	OMIM:276820
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Occipital Horn Syndrome	Pectus carinatum, High palate, Narrow chest, Broad ribs, Joint laxity, Pelvic bone exostoses, Hia...	OMIM:304150
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Atrial s...	OMIM:150250
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Mild microcephaly, Deeply set eye, Atrial septal defect, Micropenis, Thick upper lip v...	ORPHA:363444
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal...	OMIM:612463
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou...	ORPHA:2378
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent...	ORPHA:2180
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Pes planus, Arachnodactyly, Broad nasal tip, Cleft lip, Cleft palate, Large hands, Thor...	OMIM:300263
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de...	ORPHA:263508
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Pectus excavatum, Cryptorchidism, Joint hyperflexibility, S...	ORPHA:1695
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pectus excavatum, Cryptorchidism, Clinodactyly, Small hand, Wide nasal bridge, Pectus carinatum, ...	OMIM:614684
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr...	ORPHA:88630
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Inguinal hernia, Rhizomelia, Anteverted nares, Choanal atresia, Mic...	ORPHA:2645
Ulbright-Hodes Syndrome	Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa...	ORPHA:3404
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short neck, Femoral bowing, Short metacarpal, Depressed nasa...	OMIM:616723
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Carious teeth, Na...	ORPHA:96097
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Summitt Syndrome	Finger syndactyly, Epicanthus, Wide nose, Prominent metopic ridge, Camptodactyly of finger, Crani...	ORPHA:3210
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Intellectual Disability, Wolff Type	Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Bulbous...	ORPHA:3080
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Craniosynostosis, Micrognathia, Hypertelorism, Pyloric stenosis, Conductive hearing...	ORPHA:261197
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Diabetes mellitus, Abnormal dental enamel morphology, Kyphoscoliosis, ...	OMIM:601701
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ...	OMIM:300590
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee flexion contract...	OMIM:617402
Feingold Syndrome Type 2	Toe syndactyly, Jejunal atresia, Short thumb, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short neck, Depresse...	ORPHA:2021
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co...	OMIM:600593
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Respiratory distress, Hypospadias, Microcephaly, Micrognathia, Wide mouth, Dee...	OMIM:300934
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Down-sloping shoulders, Abnormality of the nose, Carious teeth, Joint hyperflexibility, Scoliosis...	ORPHA:1390
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Broad skull, Intracranial hemorrhage, Short philtrum, At...	ORPHA:163979
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Punctate vertebral calcifi...	ORPHA:1914
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi...	ORPHA:141152
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener...	ORPHA:508498
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micromeli...	OMIM:617866
Snijders Blok-Campeau Syndrome	Joint laxity, Frontal bossing, Prominent nose, Hypertelorism, Wide nasal bridge, Macrocephaly, Ta...	OMIM:618205
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Posteriorly rotated ears, Micrognathia, Microcephaly, Sho...	ORPHA:1832
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Prot...	OMIM:190350
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Depressed nasal bridge, Single tra...	OMIM:617425
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Frontal bossing, Hypoplasia of penis, Anteverted nares, Campto...	ORPHA:1703
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ...	ORPHA:798
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Cri-Du-Chat Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner...	OMIM:123450
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectu...	OMIM:609223
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas...	OMIM:614900
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Short lingual frenulum, Bowed humerus, Depressed nasal bridge, Fle...	OMIM:619479
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, ...	ORPHA:377
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata...	ORPHA:356961
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Pierre-Robin ...	OMIM:184840
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent...	OMIM:616229
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret...	ORPHA:179
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Aganglionic megacolon, Toe synda...	ORPHA:959
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost...	OMIM:612961
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f...	OMIM:277170
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Epicanthus, Short metacarpal, Cryptorchidism, Short thumb, Delayed skeletal maturation	ORPHA:2489
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Conductive hearing impairment, Chronic otitis media, Abnormal sperm motil...	ORPHA:244
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor...	ORPHA:321
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Sensorineural hearing impairment, R...	OMIM:194350
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ...	OMIM:609325
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Short philtrum, Camptodactyly, Adducted t...	OMIM:614257
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, ...	ORPHA:251014
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Microcephaly, Hypertelorism, Aplasia/Hypoplasia of fingers, A...	ORPHA:1919
Familial Anetoderma	Irregular dentition, Lumbar hyperlordosis, High, narrow palate, Abnormal tibia morphology, Genera...	ORPHA:228277
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the hand, Abnormal thumb m...	ORPHA:1842
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Aplasia/Hypoplasia of t...	ORPHA:1597
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Anis...	ORPHA:1865
Mucopolysaccharidosis Type 4	Short neck, Reduced bone mineral density, Pectus carinatum, Anteverted nares, Abnormal dental ena...	ORPHA:582
Roifman Syndrome	Narrow nasal bridge, Thin upper lip vermilion, Hip contracture, Epiphyseal dysplasia, Bilateral s...	ORPHA:353298
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ...	OMIM:617405
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Microcephaly, Hypertelorism, Depressed nasal ...	ORPHA:1727
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Epicanthus, Decreased body weight, Broad phalanx, Short phala...	OMIM:618724
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short...	OMIM:302950
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Charlie M Syndrome	Finger syndactyly, Micrognathia, Non-midline cleft lip, Split hand, Wide nasal bridge, Tooth agen...	ORPHA:1406
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Bifid scrot...	OMIM:615546
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, D...	OMIM:620073
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Epicanthus, Coxa valga, Prominent nose, Cryptorchidism, Osteoporosis, Finger cli...	ORPHA:2958
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor...	OMIM:255800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e...	OMIM:271640
Cohen Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Single transverse palm...	OMIM:216550
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Trismus, Vertebral wed...	OMIM:616583
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha...	OMIM:263520
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo...	OMIM:194190
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short neck, Micrognathia, Cleft palate, Short nose, A...	ORPHA:2015
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt...	OMIM:615170
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly	ORPHA:3303
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A...	ORPHA:90653
Distal Duplication 18Q	Arachnodactyly, Abnormal dental morphology, Camptodactyly of finger, Micrognathia, Carious teeth,...	ORPHA:1716
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Prom...	OMIM:612474
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones...	OMIM:215045
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Grant Syndrome	Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnormal rib morpholog...	ORPHA:2097
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Flexion contracture, Hip dysplasia, Scoliosis, Short nose	OMIM:618379
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Sprengel Deformity	Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, Abnormality o...	ORPHA:3181
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Short thorax, Reduced bone mineral density, Downturned corners of mouth, Ge...	ORPHA:2983
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Temtamy Syndrome	Pes planus, Brachydactyly, Micrognathia, Short toe, Thick lower lip vermilion, Joint hyperflexibi...	ORPHA:1777
Perching Syndrome	Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Scoliosis, Camptodactyly, Jo...	OMIM:617055
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B...	OMIM:618618
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
20Q11.2 Microdeletion Syndrome	Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Short philtrum, Camptodactyly, Adduct...	ORPHA:444051
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, ...	ORPHA:261120
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Conductive hear...	ORPHA:2780
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Anteverted nares, Thor...	OMIM:313420
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c...	OMIM:305400
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Prominent nose, Wide nasal bridge, Narrow palate, Brachydactyly	OMIM:617169
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality o...	ORPHA:84
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short toe, Short...	OMIM:103580
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Cortica...	OMIM:122860
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx...	OMIM:258480
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fractures, Depressed nasa...	OMIM:618188
3C Syndrome	Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial clef...	ORPHA:7
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphos...	ORPHA:2655
Pallister-Hall Syndrome	Small scrotum, Depressed nasal ridge, Hemivertebrae, Abnormal lung lobation, Atrial septal defect...	ORPHA:672
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Prominent metopic ridge, Broad hallux, Anteverted nares, Postaxial polydactyly, ...	ORPHA:457284
Blomstrand Lethal Chondrodysplasia	Micrognathia, Accelerated skeletal maturation, Narrow chest, Distal shortening of limbs, Short me...	ORPHA:50945
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Broad hallux, Exaggerated cupid's bow, Hypospadias, Tapered finger, Hypertelorism, ...	OMIM:618659
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed nasal bridge, Kypho...	OMIM:215100
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth...	OMIM:280000
Lujan-Fryns Syndrome	Arachnodactyly, Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Micrognat...	ORPHA:776
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Pectoral muscle hypoplasia/aplasia, Widely-spaced maxillary central in...	OMIM:136760
16P13.11 Microduplication Syndrome	Arachnodactyly, Ventricular septal defect, Craniosynostosis, Pectus excavatum, Coarctation of aor...	ORPHA:261243
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp...	ORPHA:93304
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Apnea, Micrognathia, Cardiomegaly, Secundum at...	OMIM:300855
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Pectus carinatum, Hypotelor...	ORPHA:3082
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Deeply set eye, ...	ORPHA:508533
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Decreased skull ossification, Aplasia/Hypo...	ORPHA:1662
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon...	OMIM:602271
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Radial Ray Hypoplasia With Choanal Atresia	Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin...	OMIM:179270
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Prominent nose, Delayed ep...	OMIM:210710
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Shashi-Pena Syndrome	Accelerated skeletal maturation, Atrial septal defect, Short metacarpal, Hypertelorism, Patent du...	OMIM:617190
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Hypertelorism, Short thorax, Abnormal rib morphology, ...	ORPHA:2484
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ...	OMIM:109400
Trichorhinophalangeal Syndrome Type 1	Micrognathia, Short metatarsal, Pectus carinatum, Protruding ear, High palate, Clinodactyly of th...	ORPHA:77258
Congenital Disorder Of Glycosylation, Type Iie	Micrognathia, Secundum atrial septal defect, Short neck, Death in infancy, Neonatal asphyxia, Res...	OMIM:608779
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Cryptorchidism, Unilambdoid synosto...	OMIM:618577
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Inguinal hernia, Tapered toe, Sparse eyelashes, Tapered finger, Bi...	ORPHA:544488
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly of the...	ORPHA:217385
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, ...	ORPHA:171839
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi...	OMIM:132450
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Osteopenia, Prominent nose, Short metatarsal, Deeply set eye, Clitoral hyp...	OMIM:614813
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Decreased respon...	ORPHA:1896
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w...	OMIM:210720
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Sacral dimple, Inguinal hernia, Epicanthus, Single transverse palmar crease, Promin...	OMIM:613544
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi...	ORPHA:1143
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Abnormality of the wris...	ORPHA:1657
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short...	OMIM:619638
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
2q37 monosomy	Thin upper lip vermilion, Brachydactyly	DECIPHER:44
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Kyphoscoliosis, Hypoplasia of the odontoid process, Bulbous nose, Wide nas...	OMIM:612913
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr...	ORPHA:763
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Kuskokwim Syndrome	Abnormal clavicle morphology, Talipes, Joint stiffness, Aplasia/Hypoplasia of the patella, Abnorm...	ORPHA:1149
Schaaf-Yang Syndrome	Mandibular prognathia, Flexion contracture, Micropenis, Tapered finger, Cryptorchidism, Obesity, ...	OMIM:615547
11Q22.2Q22.3 Microdeletion Syndrome	Thin upper lip vermilion, Bilateral single transverse palmar creases, Depressed nasal bridge, Mic...	ORPHA:444002
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra...	ORPHA:157965
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Small for gestational age, Micrognathia, Cryptorchidism, Wide nasal bridge, Short mi...	OMIM:612626
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Lon...	OMIM:619995
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Clinodactyly o...	OMIM:244600
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Super...	ORPHA:1787
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Wide nasal br...	ORPHA:710
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max...	OMIM:224690
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Barrel-shaped chest, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short...	ORPHA:171866
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Pec...	OMIM:301014
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost...	ORPHA:3219
Diaphanospondylodysostosis	Respiratory distress, Absent in utero ossification of vertebral bodies, Micrognathia, Short neck,...	OMIM:608022
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Peripheral ...	ORPHA:891
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hyp...	OMIM:139210
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho...	ORPHA:83468
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ...	OMIM:119600
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Short neck, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Perimembra...	OMIM:608104
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Swollen lip, Short neck, Calcaneovalgus deformity, Depressed nasal ridg...	OMIM:256520
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Abnorma...	ORPHA:93262
Even-Plus Syndrome	Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor...	OMIM:616854
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Hypopla...	ORPHA:3455
Tarp Syndrome	Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Small e...	ORPHA:2886
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid...	OMIM:224400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Proximal placement of thumb, Micrognathia, Short neck, Anteriorly placed an...	OMIM:217980
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Anteverted nares, Kyphoscoliosis, Bulbous nose, Wide ...	OMIM:616354
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Atrioventric...	OMIM:613792
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Coccidioidomycosis	Respiratory distress, Pericarditis, Osteomyelitis, Abnormal sperm morphology, Pneumonia, Cough, B...	ORPHA:228123
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o...	OMIM:600059
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi...	OMIM:617140
Achondrogenesis	Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Short t...	ORPHA:932
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Knee pain, Delayed epiphys...	OMIM:600969
Tetrasomy 5P	Respiratory distress, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger, Long...	ORPHA:3309
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Dentin...	OMIM:259440
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t...	ORPHA:1318
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Prominent nasal bridge, Abnormality of the dentition, Carious teeth, Prominent nose, Pectus excav...	ORPHA:3270
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Accelerated skeletal maturation, Abnormal lung lobation, Pectus carinatum,...	OMIM:312870
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Highly arche...	OMIM:600430
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypop...	OMIM:617895
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Kyphosis, Limitation of joint mobility, Short thorax, Joint h...	ORPHA:93274
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Hypotelorism, Tr...	ORPHA:794
Weyers Acrofacial Dysostosis	Conical tooth, Postaxial hand polydactyly, Postaxial foot polydactyly, Clinodactyly of the 5th fi...	OMIM:193530
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Craniosynostosis, Accessory carpal bone...	ORPHA:503
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog...	ORPHA:2145
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Atrial septal def...	ORPHA:79345
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of ...	ORPHA:3015
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta...	OMIM:610017
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Single transverse palmar crease, Micrognathia, Protruding ear, High palate, Atrial septal defect,...	ORPHA:3304
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L...	OMIM:615314
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr...	OMIM:619143
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Anteverted nares, Hea...	ORPHA:2701
Chung-Jansen Syndrome	Epicanthus, Anteverted nares, Joint hypermobility, Tapered finger, Micrognathia, Cryptorchidism, ...	OMIM:617991
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Brachydactyly, Epicanthus, Single transverse palmar crease, Tele...	OMIM:601224
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Pectus excavatum of inferior sternum, Small scrotum, Depressed nasal bridge, Rocker bottom foot, ...	OMIM:601353
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Pelger-Huet Anomaly	Frontal bossing, Depressed nasal bridge, Ventricular septal defect, Abnormality of the dentition,...	OMIM:169400
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Cryptor...	OMIM:618393
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di...	ORPHA:94065
Alopecia-Intellectual Disability Syndrome	Abnormal nasal morphology, Split hand, Flexion contracture, Scoliosis, Brachydactyly	ORPHA:2850
Clark-Baraitser Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Sandal gap, Anteverted nares, Depressed nasal ...	OMIM:617752
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle...	ORPHA:1952
Recombinant Chromosome 8 Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, Atrial septal defect, Clinodactyly of t...	OMIM:179613
Lateral Meningocele Syndrome	Dental crowding, Bicuspid aortic valve, Micrognathia, Short neck, High palate, Conductive hearing...	OMIM:130720
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Short neck, Knee flexion contracture, Hernia, Spina bif...	OMIM:193700
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Elevated circula...	OMIM:612462
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Weiss-Kruszka Syndrome	Prominent metopic ridge, Anteverted nares, Single transverse palmar crease, Proximal placement of...	OMIM:618619
Lowry-Wood Syndrome	Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epiphyses, Platysp...	ORPHA:1824
Monosomy 5P	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Recurrent fractures, Mic...	ORPHA:281
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Mic...	OMIM:615761
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Right aortic...	OMIM:231060
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Au-Kline Syndrome	Vertebral segmentation defect, Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ...	OMIM:616580
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Short neck, Reduced forced vital capacity, Reduced forced expiratory...	OMIM:613686
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Ptosis, Tapered finger, Cryptorchidism, Kyphos...	OMIM:301900
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Micrognathia, Prominent fingertip pads, Broad hallux, Anteverted nares, Cl...	OMIM:618529
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Hypertelorism, Diastema, Deep ...	OMIM:605282
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Micrognat...	OMIM:241800
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Dysmenorrhea, Micrognathia, Abnormal form of...	ORPHA:2067
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm...	ORPHA:93311
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Coffin-Siris Syndrome 6	Frontal bossing, Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis,...	OMIM:617808
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Dental crowding, Prominent nasal bridge, Joint stiffness,...	OMIM:619184
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br...	OMIM:614188
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Depressed nasal ridge, Brachycephaly, Orofacial cleft, Abnormal lung lobat...	OMIM:607872
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Anomalous origin of lef...	OMIM:618845
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated s...	OMIM:602535
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Chime Syndrome	Depressed nasal ridge, Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental mo...	ORPHA:3474
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Irregular ...	ORPHA:250984
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Frontal bossing, Enlarged joints, Depressed nasal bridge, Tapered finger, P...	OMIM:607131
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Selective tooth agenesis, Conical tooth, Absent middle phalanx of 5th finger, Tri...	OMIM:124480
2Q37 Microdeletion Syndrome	Short neck, Downturned corners of mouth, Deeply set eye, Short palm, Clinodactyly of the 5th fing...	ORPHA:1001
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Pectus carinatum, High palate...	ORPHA:93315
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Prader-Willi Syndrome Due To Imprinting Mutation	Short foot, Narrow palm, Abnormal ulnar metaphysis morphology, Small hand	ORPHA:177910
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Abnormality of the lower limb, No...	ORPHA:245
Miller-Dieker Syndrome	Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S...	ORPHA:531
Pierpont Syndrome	Uplifted earlobe, Short neck, Brachycephaly, Deeply set eye, Widely spaced teeth, Prominent finge...	ORPHA:487825
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Brachycephaly, Pectus carinatum,...	OMIM:619910
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatum, High palate, Bilater...	OMIM:615582
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Pes planus, Mandibular prognathia, Sandal gap, Depressed nasal bridge, Kyphosis, Bu...	OMIM:300354
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Cryptorchidism, Wide nasal brid...	ORPHA:2863
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Malar flattening, Craniosynostosis, Long nose, Bilateral ptosis, Pan...	OMIM:180750
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:277440
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p...	ORPHA:65759
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Zimmermann-Laband Syndrome 3	Broad nasal tip, Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Syn...	OMIM:618658
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Trisomy 4P	Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Hypospadias, ...	ORPHA:1738
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fractures, Craniosynostosis, Narrow m...	ORPHA:83
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Plantar hyperkeratosis, Osteopenia, Abnormal t...	ORPHA:2909
Intellectual Developmental Disorder, Autosomal Dominant 59	Sacral dimple, Short foot, Long philtrum, Short palm, Brachydactyly	OMIM:618522
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Sparse lower eyelashes, Lacrimation abnormality, Highly arched eyebrow, Abnormal sacr...	ORPHA:1807
Koolen-De Vries Syndrome	Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segmentation defect, Microd...	ORPHA:96169
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Wide nose, Rocker bottom foot, 4-layered lissencephaly, ...	ORPHA:89844
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Inguinal hernia, Craniosynostosis, Micrognathia,...	ORPHA:166035
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca...	OMIM:183900
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Clinodactyly, Hypotelorism, Glossoptosis, Deeply s...	OMIM:613604
Muenke Syndrome	Clinodactyly, Brachycephaly, High palate, Short middle phalanx of toe, Thimble-shaped middle phal...	OMIM:602849
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Lacrimal duct stenosis, Depressed nasal bridge, Short neck, Short m...	OMIM:613328
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Azoosp...	ORPHA:1445
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral...	OMIM:619345
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Small hand, Fibular hypoplasia, Downtur...	ORPHA:444077
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Mandibular prognathia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener...	OMIM:259420
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Thin upper lip vermilion, Dental crowding, Brachydactyly	OMIM:618879
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N...	OMIM:269860
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Atrial sep...	ORPHA:79113
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr...	ORPHA:1488
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac...	OMIM:619751
Aicardi Syndrome	Protruding ear, Short philtrum, Pachygyria, Intestinal polyposis, Prominence of the premaxilla, C...	ORPHA:50
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the...	ORPHA:175
48,Xyyy Syndrome	Pes planus, Depressed nasal bridge, Short neck, Abnormal foot morphology, Thick lower lip vermili...	ORPHA:99329
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Broad na...	OMIM:619736
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Clinodactyly of the 5...	ORPHA:2759
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, ...	OMIM:268300
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Trisomy 13	High, narrow palate, Abnormal lung lobation, Hypotelorism, Deeply set eye, Narrow chest, Atrial s...	ORPHA:3378
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S...	OMIM:200610
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of...	ORPHA:3238
Hypophosphatasia, Infantile	Death in infancy, Micromelia, Bowing of the legs, Abnormality of the dentition, Craniosynostosis,...	OMIM:241500
Shprintzen-Goldberg Syndrome	Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of...	ORPHA:2462
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Short neck, Death in childhood, Bifid uvula, Anteverted nares, Cryptorchidism, Patent ductus arte...	OMIM:612938
Bartsocas-Papas Syndrome 1	Short neck, Bilateral cryptorchidism, Cicatricial lagophthalmos, Hypoplasia of the maxilla, Flexi...	OMIM:263650
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Thoracic hypoplasia, Micromelia, Micrognathia, Wide nasal bridge, Short...	OMIM:224410
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Hypoplasia of the maxill...	OMIM:619142
Achard Syndrome	Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly	OMIM:100700
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Anteverted nares, Wide mouth, Delayed eruption of pe...	OMIM:618506
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Short n...	OMIM:236500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Generalized joint laxi...	ORPHA:251028
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly	OMIM:613819
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Developmental And Speech Delay Due To Sox5 Deficiency	Thoracic kyphoscoliosis, Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Fro...	ORPHA:313892
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger...	OMIM:617926
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Hypoplasia of the odon...	ORPHA:85172
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar...	OMIM:259600
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Trichomegaly	Cataract	OMIM:190330
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Thickened helices, Hypertelorism, Hypoplasia of the...	ORPHA:261295
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Long fibula,...	OMIM:610442
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short foot, Abnormal hand morphology, Small hand, Cleft palate	OMIM:300261
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Micro...	ORPHA:85279
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Single transvers...	OMIM:269150
Microtriplication 11Q24.1	Wide nose, Short neck, Metatarsus adductus, Limitation of joint mobility, Small hand, Cleft palat...	ORPHA:289522
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Micrognathia, Preaxial polydactyly, Brachycephaly, High palate, Atrial s...	OMIM:618142
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Cleft palate, Reduced bone mineral den...	ORPHA:577
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata...	OMIM:617137
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Hypotelorism, Downturned corners of mouth, Advanced eruption of teeth, Prominence ...	ORPHA:2215
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, M...	OMIM:614091
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Single transverse palmar crease, Micrognathia, Choanal stenosis, Micropenis...	ORPHA:83617
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim...	ORPHA:2204
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints...	OMIM:186570
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Entropion, Flat nasal alae, Cryptorchidis...	ORPHA:910
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Micrognathia, Microcephaly, Cryptorchidism, ...	OMIM:611890
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ...	ORPHA:1517
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Peho-Like Syndrome	Open mouth, Retrognathia, Short nose, Tapered finger	OMIM:617507
Cerebrofaciothoracic Dysplasia	Epicanthus, Wide nose, Short neck, Synophrys, Hemivertebrae, Rib fusion, Sprengel anomaly, Verteb...	ORPHA:1394
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib mor...	ORPHA:2345
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humer...	ORPHA:1794
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Thin upper lip vermilion, Brachydactyly, Limited elbow extension and supination, In...	ORPHA:401935
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short ...	ORPHA:198
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Bilateral single transverse palmar creases, Talipes, Abnormality of the...	ORPHA:502
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Abnormal thorax morphology, Recurrent...	ORPHA:508542
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Atrial septal defect, Conductive hearing impairment, Patent foramen ovale, Joint...	OMIM:157800
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Male pseudohermaphroditism, Upslanted p...	OMIM:600092
Three M Syndrome 2	Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte...	OMIM:612921
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ...	OMIM:306955
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Aicardi Syndrome	Proximal placement of thumb, Hemivertebrae, Pachygyria, Prominence of the premaxilla, Anteverted ...	OMIM:304050
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Anteverted nares, Rocker bottom foo...	OMIM:619762
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop...	ORPHA:2643
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o...	ORPHA:576283
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Acrofrontofacionasal Dysostosis	Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft...	ORPHA:1784
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Short neck, Brachycephaly, Protruding ear, Choan...	OMIM:259775
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Abnorm...	ORPHA:921
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr...	OMIM:613390
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,...	ORPHA:391408
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Finger syndactyly, Microretrognathia, Bilateral single transverse palmar creases...	ORPHA:1786
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm...	ORPHA:2710
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Short neck, Kyp...	ORPHA:238750
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Brachydactyly, Camptodactyly of finger, Highly arched eyebrow...	ORPHA:2083
Nathalie Syndrome	Cataract	ORPHA:2663
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala...	ORPHA:221120
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Narrow chest, Absent or minimally ossified vertebral bo...	OMIM:600972
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Clinodactyly o...	OMIM:619721
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Coffin-Siris Syndrome 2	High palate, Short philtrum, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Delayed sk...	OMIM:614607
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus...	OMIM:178110
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ...	OMIM:184460
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb...	OMIM:619795
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo...	OMIM:187600
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens...	OMIM:617974
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro...	ORPHA:633
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor...	ORPHA:96148
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Broad nasal tip, Bifid nasal tip, Preaxial polydactyly, Preaxial foo...	OMIM:603671
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot defor...	ORPHA:2583
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Patellar hypoplasia, High palate, Short philtrum, Thorac...	ORPHA:3041
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o...	ORPHA:1617
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, Hypotelorism, High palate, Widely spaced teeth, Prominent...	OMIM:610443
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Sacral dimple, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Dolich...	ORPHA:1516
48,Xxyy Syndrome	Hypoplasia of penis, Flat occiput, Apnea, Abnormal shoulder morphology, Clinodactyly of the 5th f...	ORPHA:10
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Mullegama-Klein-Martinez Syndrome	Prominent nose, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres...	OMIM:301022
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Genu valgum, Joint hyperflexibility, Hi...	ORPHA:1035
Trisomy 8Q	Hypoplasia of penis, Micrognathia, Short neck, Orofacial cleft, Protruding ear, Long thorax, High...	ORPHA:1752
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Missing...	OMIM:220210
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Abnormal form of ...	ORPHA:819
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnormality of the e...	ORPHA:1486
Meckel Syndrome, Type 8	Short neck, Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes equinovaru...	OMIM:613885
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Tonne-Kalscheuer Syndrome	Micrognathia, Prominent nose, Hypotelorism, Downturned corners of mouth, Widely spaced teeth, Mic...	OMIM:300978
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta...	OMIM:300990
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral ...	OMIM:227330
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a...	ORPHA:264450
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multiplex con...	OMIM:616570
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of toe, Natal tooth, Brachydactyly, Mandibular prognathia, Single transverse...	OMIM:601957
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hearing impairment, Abnormality of the dentit...	OMIM:182290
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Tented upper lip vermilion, Flat occiput, Flexion contracture, Pectus carin...	OMIM:619383
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Epicanthus, Short neck, Micrognathia, Cryptorchidism, Underdevelope...	OMIM:614230
Legg-Calvé-Perthes Disease	Joint dislocation, Abnormality of the dentition, Cartilage destruction, Delayed skeletal maturati...	ORPHA:2380
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth...	OMIM:300882
Weaver Syndrome	Hypoplasia of penis, Micrognathia, Accelerated skeletal maturation, Deep philtrum, Long philtrum,...	ORPHA:3447
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac...	OMIM:108300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Rhizomelia, Short iliac bones, Metaphyseal widening, Wide nasal bridge,...	OMIM:614376
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the...	ORPHA:1295
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Shallow orbits, Clinodactyly of the 5th finger, Prominent metopi...	ORPHA:1272
Phaver Syndrome	Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu...	ORPHA:2876
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff...	OMIM:614399
Trisomy 20P	Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Reduced bone mine...	ORPHA:261318
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Thick lower ...	ORPHA:583
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Micrognathia, Coxa vara, Hernia, Abnormality of subcutaneous fat t...	ORPHA:1901
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short neck, Obesity, Azoospermia, Cubitus valgus, Abnormality of ...	ORPHA:2183
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Short foot, Radioulnar syno...	ORPHA:11
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Microgna...	ORPHA:2872
Rubinstein-Taybi Syndrome	Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux phalanx, Highly arc...	ORPHA:783
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Protruding ear, Downturned corners of mouth, High palate, Atrial...	OMIM:618950
Jansen-De Vries Syndrome	Thin upper lip vermilion, Anteverted nares, Hyperlordosis, Small hand, Wide mouth, Short foot, Br...	OMIM:617450
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve...	ORPHA:87
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of ...	OMIM:616894
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis...	OMIM:614732
Charge Syndrome	Abnormal palmar dermatoglyphics, External genital hypoplasia, Micrognathia, Secundum atrial septa...	OMIM:214800
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Hypospadias, Micrognathia, Pectus excav...	ORPHA:2522
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Short neck, Metaphyseal widening, Flexion contracture, Abnormal lung lobation, Brac...	OMIM:263210
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Anteverted nares, Micrognathia, Short nose, Delayed eruption of perm...	OMIM:619356
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Pro...	ORPHA:500150
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Prominent nose, Talipes equ...	ORPHA:453510
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Sle...	ORPHA:1185
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Nicolaides-Baraitser Syndrome	Enlarged joints, Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joi...	OMIM:601358
Cantu Syndrome	Short neck, Large for gestational age, Metaphyseal widening, Narrow chest, Erlenmeyer flask defor...	OMIM:239850
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Sh...	OMIM:275900
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Mosaic Trisomy 20	Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear...	ORPHA:1724
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Bullous Dystrophy, Hereditary Macular Type	Microcephaly, Tapered finger, Short finger, Death in childhood, Acrocyanosis	OMIM:302000
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar...	OMIM:122470
Prieto Syndrome	11 pairs of ribs, Coxa valga, Prominent nose, Abnormality of the dentition, Cryptorchidism, Hyper...	OMIM:309610
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Small hand, ...	ORPHA:96184
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Deeply set eye, Short philtrum, Atrial septal defect, Pul...	OMIM:618316
Autism Spectrum Disorder Due To Auts2 Deficiency	Decreased palmar creases, Micrognathia, Congenital contracture, Short philtrum, Joint contracture...	ORPHA:352490
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Respiratory distress, Flat occiput, Depressed nasal bridge, Ankle flexion contracture...	OMIM:608799
Alpha-Mannosidosis	Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Chronic otitis...	ORPHA:61
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Progeroid facial appearance, Hypoplasia of the maxilla, Sensorineural hearing impairm...	OMIM:608154
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Glossoptosis, Mandibular condyle apla...	OMIM:614669
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, Deeply set eye, High palate, Short philtrum, ...	OMIM:619312
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Pectus carinatum, Downtu...	ORPHA:955
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Hypertelorism, Flexion contracture, Resp...	OMIM:218000
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo...	ORPHA:2789
Joubert Syndrome 18	Joint laxity, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Kyphoscoliosis, Cl...	OMIM:614815
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Monosomy 18P	Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Pectus excavatum, Wide nasal bridge, Cle...	ORPHA:1598
Renpenning Syndrome	Mandibular prognathia, Prominent nose, High, narrow palate, Short philtrum, Clinodactyly of the 5...	ORPHA:3242
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forear...	OMIM:600383
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas...	ORPHA:1133
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b...	OMIM:612916
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Bulbous nose, Periodontitis, Brachydactyly	OMIM:266265
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, Short phalanx of finger, Genu varu...	ORPHA:221016
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Abn...	ORPHA:166100
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Multiple impacted teeth, Short clavicles,...	OMIM:113300
Meckel Syndrome 14	Occipital encephalocele, Micrognathia, Short neck, Single ventricle, Microretrognathia, Syndactyl...	OMIM:619879
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Anteverted nares, Microg...	ORPHA:251019
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Talipes, Camptodactyly of finger, Micrognathia, Narrow mouth, Short nose, Abnor...	ORPHA:1495
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye,...	OMIM:615984
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Craniosy...	ORPHA:284417
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Tr...	OMIM:277720
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Absent lacrimal punctum, Telecanthus, Depressed nasal bridge, Sparse eyebrow,...	OMIM:167730
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o...	OMIM:618265
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cle...	OMIM:613823
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Nar...	ORPHA:66637
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Kagami-Ogata Syndrome	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defect, Anteverted na...	OMIM:608149
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, N...	OMIM:311900
Trisomy 9P	Sacral dimple, Dental crowding, Bilateral single transverse palmar creases, Short neck, Abnormal ...	ORPHA:236
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Prominent nose, Kyphosis, ...	ORPHA:1005
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o...	ORPHA:1895
Temple Syndrome	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Flexion contracture, Small han...	OMIM:616222
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Delayed skele...	ORPHA:3085
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o...	ORPHA:2475
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr...	OMIM:616468
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia	ORPHA:85173
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Bronchioliti...	OMIM:615993
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperexten...	ORPHA:544503
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol...	OMIM:126550
Intellectual Developmental Disorder, Autosomal Dominant 26	Decreased palmar creases, Micrognathia, Deep philtrum, Brachycephaly, Short philtrum, Clinodactyl...	OMIM:615834
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Dental crowding, Depressed nasal bridge, Kyphoscoliosis, Deep phi...	ORPHA:397709
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:264700
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Flat occiput, External genital hypoplasia, Micrognathia, Prominent nose, Sh...	ORPHA:177907
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Abnormal femoral ...	ORPHA:3218
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Brachycephaly, Downturned corners of mouth, Bifid uvula, Anteverted ...	ORPHA:404440
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Hip ...	OMIM:616507
Aspartylglucosaminuria	Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Abnormality of the dentition, Car...	ORPHA:93
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus exca...	OMIM:619131
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten...	OMIM:615716
20Q11.2 Microduplication Syndrome	Bifid scrotum, Pectus carinatum, Short palm, Clinodactyly of the 5th finger, Abnormal nasal bridg...	ORPHA:363659
Trigonocephaly 1	Omphalocele, Epicanthus, Craniosynostosis, Synophrys, Long penis, Wide nasal bridge, Upslanted pa...	OMIM:190440
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ...	OMIM:615630
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly, Abnormality of the dentition	OMIM:615982
Peters-Plus Syndrome	Hypoplasia of the vagina, Short lingual frenulum, Single transverse palmar crease, Proximal place...	OMIM:261540
Mosaic Trisomy 16	Single transverse palmar crease, Abnormal lung morphology, Anteriorly placed anus, Atrial septal ...	ORPHA:1708
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Pes planus, Dental crowding, Abnormality of the hand, Abnormality of the dentition, U...	ORPHA:476126
Marinesco-Sjogren Syndrome	Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Flexion contracture, Shor...	OMIM:248800
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Short neck, Esophageal a...	OMIM:619859
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Mosaic Trisomy 8	Micrognathia, Short neck, Protruding ear, Deeply set eye, Vertebral segmentation defect, High pal...	ORPHA:96061
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro...	ORPHA:235
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A...	OMIM:619797
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow...	OMIM:609220
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Rin2 Syndrome	Irregular dentition, Pes planus, Gingival overgrowth, Increased susceptibility to fractures, Abno...	ORPHA:217335
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of th...	ORPHA:3107
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Short neck, Underdeveloped nasal alae, Dental malocclusion, Broad columel...	ORPHA:436245
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hyper...	ORPHA:1540
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Micrognathia, Short neck, Calcaneovalgus defo...	OMIM:615065
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognat...	ORPHA:1305
Waardenburg Syndrome Type 1	Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Lacrimation abnormality, Unde...	ORPHA:894
Doors Syndrome	Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Hemivert...	ORPHA:79500
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ...	OMIM:610682
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated s...	ORPHA:373
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ...	ORPHA:2588
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wide anterior fontan...	OMIM:207410
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:3201
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint dislocation, Joint laxity, Prominent nose, Bulbous nose, Wide nasal brid...	OMIM:606220
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Reduced bone mineral density, Scoliosis	ORPHA:2611
De Sanctis-Cacchione Syndrome	Entropion, Bilateral cryptorchidism, Gonadal hypoplasia, Conjunctivitis, Bilateral coxa valga, Ec...	OMIM:278800
1P36 Deletion Syndrome	Hypoplasia of penis, Depressed nasal ridge, Brachycephaly, Deeply set eye, Clinodactyly of the 5t...	ORPHA:1606
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:300845
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Short neck, Depressed nasal ridge, Gingival overgrowth...	ORPHA:464288
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ...	OMIM:249420
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac w...	ORPHA:2637
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma...	ORPHA:3138
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Inverted Duplicated Chromosome 15 Syndrome	Epicanthus, Broad nasal tip, Precocious puberty, Cryptorchidism, Synophrys, 2-3 toe syndactyly, G...	ORPHA:3306
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve...	OMIM:618143
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Macroglossia, Protein-losing enteropathy, Scol...	ORPHA:79320
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Thoracic hypoplasia, Short proximal...	OMIM:616638
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Telecanthus, Micromelia, Male pseudohermaphroditism, Increase...	ORPHA:1422
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the...	ORPHA:2994
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab...	ORPHA:436
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta...	OMIM:118650
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa...	ORPHA:79107
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Deeply set eye, Humeral pseuda...	ORPHA:2044
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, T...	OMIM:612651
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Prominent nose, Lo...	ORPHA:2636
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid...	OMIM:613443
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly	OMIM:616459
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, M...	ORPHA:2257
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte...	ORPHA:1512
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recur...	ORPHA:93160
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	OMIM:309520
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies,...	ORPHA:233
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses...	OMIM:619269
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Intellectual Developmental Disorder, X-Linked 9	Macrotia, Short distal phalanx of finger	OMIM:309549
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinod...	ORPHA:166277
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t...	ORPHA:1264
Mucopolysaccharidosis, Type X	Spatulate ribs, Hyperlordosis, Diastema, Open bite, Broad clavicles, Wide nasal bridge, Genu valg...	OMIM:619698
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Halperin-Birk Syndrome	Micrognathia, Flexion contracture, Hip dislocation, Aspiration, Perimembranous ventricular septal...	OMIM:618651
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho...	OMIM:613458
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Non-midline ...	ORPHA:2075
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Joint stiffness, Thoracolumbar kyphosis, Gingival overgrowth, Hypo...	OMIM:230600
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin...	ORPHA:2658
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Abnormal lung lobation, Vertebral segmentatio...	ORPHA:1120
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ...	OMIM:615042
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Pectus carinatum, P...	ORPHA:481152
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ...	OMIM:601813
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Depresse...	OMIM:614541
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Teebi Hypertelorism Syndrome 1	Omphalocele, Natal tooth, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Microg...	OMIM:145420
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Pulmonary embolism, Depres...	ORPHA:96264
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Hypothyroidism, Short phalanx of finger, Genu varum, Short metac...	ORPHA:221008
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Downtu...	OMIM:156200
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Narrow chest	ORPHA:1861
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Brachycephal...	OMIM:265380
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Micrognathia, Short neck, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, ...	OMIM:620250
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Osteopenia, Chronic gastritis, Bicuspid aortic valve, Single transverse pa...	OMIM:150230
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Pulmonary embolism, Depres...	ORPHA:96263
Ohdo Syndrome	Joint laxity, Epicanthus, Small scrotum, Anteverted nares, Depressed nasal bridge, Blepharophimos...	OMIM:249620
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Short neck, Flexion contracture, Brachycephaly, Protruding ear, High palate, Atrial...	OMIM:617452
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93259
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Small thenar em...	OMIM:239800
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Sho...	ORPHA:2013
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,...	OMIM:226980
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Talipes equinovarus	OMIM:614209
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Glandular hypospadias, Downtu...	OMIM:136140
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor...	ORPHA:508488
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,...	ORPHA:2662
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Hypertelorism, Supe...	ORPHA:2919
Mucolipidosis Iii Gamma	Abnormality of the hand, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordos...	OMIM:252605
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Thin verm...	ORPHA:1702
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Micrognathia, Generalized joint laxi...	ORPHA:99330
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Epicanthus, Depressed nasal bridge, Abnormality of the hand, S...	ORPHA:369891
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Prominent nose, Brachycephaly, Hypotelorism, Atrial septal defect, Bifid uv...	OMIM:300968
Heart-Hand Syndrome, Slovenian Type	Abnormal foot morphology, Brachydactyly	ORPHA:168796
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypne...	ORPHA:397715
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot	OMIM:183700
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Broad nasal tip, Small hand, Abnormal rib morphology, Broad columella, De...	ORPHA:488434
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Wormian bones...	OMIM:608612
Rapadilino Syndrome	Slender nose, Absent thumb, Aplasia/Hypoplasia of the patella, High, narrow palate, Cleft palate,...	OMIM:266280
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly	ORPHA:2150
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Proximal placement of thumb, Micrognathia, Deep philtrum, Conductive hearin...	OMIM:610536
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Clinodactyly, Flexion co...	ORPHA:391372
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda...	OMIM:615503
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Microcephaly-Capillary Malformation Syndrome	Wide nose, Ventricular septal defect, Hearing impairment, Hypertelorism, Hypoplasia of the maxill...	OMIM:614261
Myopia 17, Autosomal Dominant	Retinal hole, Presenile cataracts	OMIM:608367
Kleefstra Syndrome 1	Mandibular prognathia, Single transverse palmar crease, Brachycephaly, Conotruncal defect, Microp...	OMIM:610253
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Neu-Laxova Syndrome	Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Flexion contracture, Depressed...	ORPHA:2671
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Talipes, Aplasia/Hypoplasia of the distal ph...	ORPHA:1234
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Jo...	OMIM:304110
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypertelorism, Hypoplastic pubic bone, Gingival overgr...	OMIM:614592
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin...	OMIM:251270
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Coronal craniosynostosis, Reduced bone mineral den...	OMIM:112240
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog...	OMIM:231070
Distal Deletion 10P	Hypoplasia of penis, Micrognathia, Short neck, Clinodactyly of the 5th finger, Bilateral single t...	ORPHA:1580
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Stickler Syndrome, Type V	Retinal detachment, Cataract, Vitreoretinopathy	OMIM:614284
Macs Syndrome	Joint laxity, Epicanthus, Hypergonadotropic hypogonadism, Single transverse palmar crease, Palpeb...	OMIM:613075
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo...	OMIM:617022
Lowry-Wood Syndrome	Prominent nose, Squared iliac bones, Hip dislocation, Limited elbow extension, Elbow flexion cont...	OMIM:226960
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Micropenis, Anteverted na...	OMIM:608156
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Frontal bossing, Ventricular septal defect, Craniosynost...	OMIM:250410
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Clinodactyly of the 5th finger, Joint laxity, Hypospadias, Anteve...	OMIM:619293
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Talipes equinovalgus, Pectus carinatum, Hip dysplasia, Scoli...	OMIM:617183
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Short neck, Elbow dis...	OMIM:264180
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	ORPHA:2554
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Long nose, Cone-shaped epiphysis, Joint hyperflexibility, Palmoplan...	ORPHA:2824
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Tapered...	OMIM:618430
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Unilateral ptosis, Epicanthus, Thick eyebrow, Failure to thrive, Decreased respons...	ORPHA:485405
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Micromelia, Flexion contracture, Wide nasal bridge, Thi...	OMIM:610015
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin...	OMIM:617602
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Hypogonadotropic hypogonadism, Prominent nasal br...	ORPHA:3068
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Prominen...	OMIM:148820
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Hypospadias, Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypopla...	OMIM:616910
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures, Delayed...	ORPHA:1129
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flex...	ORPHA:800
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Deep philtrum, Bulbo...	OMIM:618571
Chitayat Syndrome	Hallux valgus, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Short columella, Thick...	OMIM:617180
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Aplasia ...	ORPHA:1358
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Specific Granule Deficiency 2	Osteopenia, Death in infancy, Brachydactyly, Sandal gap, Conical tooth, Death in childhood, Tooth...	OMIM:617475
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Joint stiffness, Micrognathia, Microcephaly, Cryptorchidism, Cleft pal...	ORPHA:1166
17Q23.1Q23.2 Microdeletion Syndrome	Patellar hypoplasia, Protruding ear, Congenital contracture, Widely spaced teeth, Atrial septal d...	ORPHA:261279
Perlman Syndrome	Ptosis, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Epicanthus, Anteverted nares, Micro...	ORPHA:2849
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Coxa valga, Microgna...	OMIM:619833
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Pachygyria, Thick ...	OMIM:247200
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Anteriorly pla...	OMIM:305600
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Morm Syndrome	Cataract, Retinal dystrophy, Retinal atrophy	ORPHA:75858
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Micrognathia, Cryptorchidism, Pectus carinatum, Scoliosis, Joint contracture, Short...	OMIM:615419
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Dental crowding, Arachnodactyly, Narrow mouth, High palate, Bilateral talipes equin...	OMIM:615539
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnorm...	ORPHA:276422
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Wide nose, Anteverted nares, Depressed nasal bridge, Sagittal craniosyn...	OMIM:618027
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Cleft palate, High palate, Scoliosis, Open mouth	OMIM:620021
Sifrim-Hitz-Weiss Syndrome	Anteriorly placed anus, Atrial septal defect, Micropenis, Bifid uvula, Hypogonadotropic hypogonad...	OMIM:617159
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Lissencephaly, T...	ORPHA:86822
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Allergic rhinitis, Pectus excavatum,...	OMIM:618162
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Craniofaciofrontodigital Syndrome	Osteopenia, Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, C...	ORPHA:363705
Arterial Tortuosity Syndrome	Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Prematurely aged...	ORPHA:3342
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger...	OMIM:300558
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero...	OMIM:235510
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Cutis marmorata, Hyp...	OMIM:602501
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Underdeveloped nasal alae, Micro...	OMIM:616549
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Wide nose, Arachnodactyly, Joint hypermobility, Thenar mus...	ORPHA:2463
Coffin-Siris Syndrome 3	Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Short distal phalanx of the 5t...	OMIM:614608
Rudiger Syndrome	Death in infancy, Depressed nasal bridge, Single transverse palmar crease, Flexion contracture, H...	OMIM:268650
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Alg9-Cdg	Short neck, Micrognathia, Narrow greater sciatic notch, Shallow orbits, Abnormal bone ossificatio...	ORPHA:79328
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Genu valgum, Wide mouth, Joint hypermobility, Duodenal atresia	OMIM:617798
3Mc Syndrome 2	Limited elbow movement, Downturned corners of mouth, High palate, Abnormal vertebral morphology, ...	OMIM:265050
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical k...	ORPHA:666
Holoprosencephaly	Hypoplasia of penis, Flat occiput, Short neck, Deep philtrum, Depressed nasal ridge, Abnormal for...	ORPHA:2162
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finger c...	ORPHA:2754
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Gloss...	ORPHA:861
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Satoyoshi Syndrome	Pes planus, Short metacarpal, Malabsorption, Short metatarsal, Osteolytic defects of the phalange...	OMIM:600705
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of...	OMIM:101400
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Galactosemia Iv	Cataract	OMIM:618881
Braddock-Carey Syndrome 1	Anteverted nares, Hyperlordosis, Clinodactyly, Pierre-Robin sequence, Small hand, Wide nasal brid...	OMIM:619980
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Kyphosis, Synophrys, Truncal obesity, Scoliosis, Short nose, Thick eyebrow	ORPHA:2429
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag...	ORPHA:289157
Geleophysic Dysplasia 2	Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Limitation of joint mobility, ...	OMIM:614185
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v...	OMIM:619472
Stickler Syndrome, Type Ii	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Long...	OMIM:604841
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Hemivertebrae, Abnormal lung lobation,...	ORPHA:99776
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Tapered finger, Pectus exc...	ORPHA:65286
Trisomy 1Q	Small scrotum, Hypotelorism, Microretrognathia, Arachnodactyly, Depressed nasal bridge, Hypertelo...	ORPHA:261344
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, Long philtr...	ORPHA:50810
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, Congenital contractur...	OMIM:248700
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Abnormal lung lobatio...	ORPHA:818
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
7Q31 Microdeletion Syndrome	Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the semicircular canal, Atrial septal de...	ORPHA:251061
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ...	OMIM:619148
Alagille Syndrome 1	Long nose, Hemivertebrae, Deeply set eye, Atrial septal defect, Hypoplasia of the ulna, Depressed...	OMIM:118450
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Short neck, Accelerated skeletal m...	OMIM:245600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ...	OMIM:130070
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Joint stiffness, Micrognathia, High, narrow palate, S...	ORPHA:2516
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Cleft palate	OMIM:302905
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h...	OMIM:250250
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Pec...	OMIM:618590
Trisomy 12P	Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Large han...	ORPHA:1699
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum ...	OMIM:192350
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Genu valgum, Be...	OMIM:255710
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Short nec...	ORPHA:363528
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Wide nose, Abnormal eyelash morphology, Sparse eyebrow, Hypoplas...	ORPHA:2399
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypo...	ORPHA:3206
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w...	OMIM:617809
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Prominent nasal bridge, ...	ORPHA:313781
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Bilateral ...	ORPHA:488642
Tetrasomy 18P	Large hands, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Geleophysic Dysplasia 1	Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, Pectus excava...	OMIM:231050
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ...	ORPHA:2547
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the...	ORPHA:313855
Autosomal Recessive Distal Osteolysis Syndrome	Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Proptosis, ...	ORPHA:2776
Desmosterolosis	Micromelia, Micrognathia, Pachygyria, Bifid uvula, Low-set, posteriorly rotated ears, Increased b...	ORPHA:35107
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Tapered finger, Pectus excavatum, Broad nasal tip, Microcephaly, Recurrent...	ORPHA:284180
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Hypospa...	OMIM:613026
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narro...	ORPHA:2409
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi...	ORPHA:1299
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia...	OMIM:166300
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Abnormality of t...	ORPHA:627
Cardiofaciocutaneous Syndrome	Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short neck, Pectus excavat...	ORPHA:1340
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Deeply set ey...	OMIM:257850
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Hyperlor...	ORPHA:354
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Short philtrum, Open mouth, Short nose	ORPHA:228384
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he...	OMIM:610797
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Inguinal hernia, Epicanthus, Telecanthus, Delayed closure of the anteri...	OMIM:225410
Distal Deletion 9P	Short neck, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, E...	ORPHA:1642
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle...	ORPHA:217017
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, High...	ORPHA:436003
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Epicanthus, Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Prominent ...	OMIM:618828
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Prominent nasal bridge...	ORPHA:457359
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Tibial bowing, Femoral bowing, Narrow chest, Neonatal death, Lumbar hyperlo...	OMIM:616482
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Abnormal foot morphology, Preaxial polydactyly, Scoliosis, Spi...	ORPHA:64754
Down Syndrome	Joint laxity, Aganglionic megacolon, Sandal gap, Bilateral single transverse palmar creases, Prot...	ORPHA:870
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Larsen-Like Syndrome	Joint laxity, Frontal bossing, Joint dislocation, Kyphoscoliosis, Hypertelorism, Wide anterior fo...	OMIM:608545
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Respiratory distress, Flat occiput, Anteriorly placed anus, Choanal stenosis, High...	OMIM:123790
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Cleft upper lip, Pectus excava...	OMIM:201180
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Hypertelorism, Dental...	ORPHA:3079
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Frontal bossing, Hypospadias, Micrognathia, Microcephaly, Cryp...	ORPHA:98791
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, High palate, At...	ORPHA:505237
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Cryptorchidism, Pectus carinatum, Upslanted palpebral fissur...	ORPHA:496790
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Mixed hearing impairment, Dental crowding, Hypertelorism, Metaphyseal wide...	OMIM:123000
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Frontal bossing, Bifid scrotum, Hypospadias, Dysmenorrhea, Mic...	ORPHA:397590
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Recurrent frac...	ORPHA:2772
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan...	ORPHA:590
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93260
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Bainbridge-Ropers Syndrome	Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Cho...	OMIM:615485
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Sweeney-Cox Syndrome	Flat occiput, Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Brachycephaly, High palat...	OMIM:617746
Sotos Syndrome	Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, High palate, Otitis ...	OMIM:117550
Toriello-Carey Syndrome	Micrognathia, Short neck, Anteriorly placed anus, Anotia, High palate, Narrow chest, Thickened he...	ORPHA:3338
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short...	ORPHA:2163
Frontonasal Dysplasia 2	Telecanthus, Aplasia of the nasal bone, Sparse eyelashes, Cleft ala nasi, Anteverted nares, Depre...	OMIM:613451
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Cryptorchidism,...	ORPHA:453499
Noonan Syndrome 13	Micrognathia, Short neck, Enlarged thorax, High palate, Widely spaced teeth, Atrial septal defect...	OMIM:619087
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Brachycephaly, Coxa vara, Promi...	ORPHA:2962
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarcta...	ORPHA:1209
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Micrognathia, Promine...	OMIM:609625
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Anteverted nares, Camptodactyly of finger, Depres...	ORPHA:93473
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Prominent nasal bridge, Pectus excavatum, Hypoplasia of the max...	OMIM:300676
Baraitser-Winter Syndrome 1	Epicanthus, Failure to thrive, Anteverted nares, Highly arched eyebrow, Short neck, Cryptorchidis...	OMIM:243310
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Contractural Arachnodactyly, Congenital	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Brachycephaly, Pectus carinatum, Kne...	OMIM:121050
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin...	OMIM:309620
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Osteo...	ORPHA:2176
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Congenital diaphragmatic hernia, Ameli...	OMIM:601163
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Pulmonary artery atresia, Micropenis, Hypospadias, Hypertelorism, Cryptorchidism, Postaxial foot ...	OMIM:301056
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Emanuel Syndrome	Congenital hip dislocation, Multiple joint contractures, Dental crowding, Micrognathia, Deeply se...	ORPHA:96170
Sclerosteosis 1	Mandibular prognathia, Broad ribs, Sclerotic vertebral endplates, Cortically dense long tubular b...	OMIM:269500
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of the distal ph...	OMIM:618958
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Short neck, High, narrow palate, Ileus, Congenital contracture, High palate, Short ...	OMIM:620156
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Flexion contracture, Orofacial cleft, Polydactyly	ORPHA:17
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick ver...	ORPHA:370930
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Flexion co...	OMIM:619124
Monosomy 9Q22.3	Short neck, Palmar pits, Accelerated skeletal maturation, Cardiac fibroma, Orofacial cleft, Long ...	ORPHA:77301
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom...	OMIM:301041
Thakker-Donnai Syndrome	Anteverted nares, Ventricular septal defect, Posteriorly rotated ears, Short neck, Hypertelorism,...	ORPHA:1780
Panner Disease	Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi...	ORPHA:97336
Cree Mental Retardation Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate...	OMIM:606851
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Bilateral cryptorchid...	OMIM:616268
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino...	ORPHA:85174
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Kyphoscoliosis, Pectus excavatum, High palate, Narrow chest, Clinodactyly of t...	OMIM:620237
Elsahy-Waters Syndrome	Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachy...	OMIM:211380
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Distal Monosomy 7Q36	Micrognathia, Short neck, Pectus excavatum, Non-midline cleft lip, Bulbous nose, Symphalangism af...	ORPHA:1636
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Conjunctivitis, Lamb...	OMIM:123500
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Short neck, Downturned corner...	OMIM:601808
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis, Shallow orbits, Clinodactyly of the ...	OMIM:617306
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Hypertelorism, Complete atrioventricular canal defect, Doubl...	OMIM:217095
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo...	ORPHA:740
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, Scoliosis, Delayed puberty, Short nose, Distichiasis	ORPHA:2598
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ...	OMIM:602361
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Anteverted nares, Upper limb undergrowth, Thoracic hypoplasia	OMIM:613124
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Respiratory distress, Anteriorly placed anus, Thickened helices, Cloverleaf skull,...	ORPHA:1555
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Mixed hearing impa...	OMIM:218400
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,...	ORPHA:2062
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Aganglionic megacolon, Type D brachydactyly	OMIM:306980
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Jo...	OMIM:618005
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M...	ORPHA:137888
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Brachydactyly	OMIM:610498
Van Esch-O'Driscoll Syndrome	Sacral dimple, Hypogonadotropic hypogonadism, Depressed nasal bridge, Retrognathia, Upslanted pal...	OMIM:301030
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Na...	OMIM:105650
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Micrognathia, Short neck, Calcaneovalgus deformity, Flexion contracture, Brachycephaly, High pala...	ORPHA:562528
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short neck, Short metatarsal, Finger clinodactyly, Deeply set ey...	ORPHA:2896
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin...	OMIM:266920
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Brachydactyly, Epicanthus, Cryptorchidism, Obesity, Hand ...	ORPHA:2377
Greig Cephalopolysyndactyly Syndrome	Accelerated skeletal maturation, Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux...	OMIM:175700
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho...	ORPHA:210548
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint...	ORPHA:93932
Cranioectodermal Dysplasia 2	Micrognathia, Short neck, Ectodermal dysplasia, Fused teeth, High palate, Narrow chest, Widely sp...	OMIM:613610
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Broad columella, Concave nasal ridge...	OMIM:617763
Recombinant 8 Syndrome	Small scrotum, Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Atrial sep...	ORPHA:96167
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ...	OMIM:618381
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss...	OMIM:601492
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Short palm, Absent eyebrow, Depr...	OMIM:268400
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, D...	OMIM:618622
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Fetal Hydantoin Syndrome	Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Triphalangeal thumb...	ORPHA:1912
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Intellectual Developmental Disorder, Autosomal Dominant 52	Prominent nose, Bilateral cryptorchidism, Pectus carinatum, Downturned corners of mouth, Deeply s...	OMIM:617796
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus,...	ORPHA:314679
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Shallow orbits, Depre...	OMIM:619127
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Vertebral segmentation defect, Shallow orbits, Hypothyroidism, Joint laxity, Prominen...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Vertebral segmentation defect, Shallow orbits, Hypothyroidism, Joint laxity, Prominen...	ORPHA:453504
Baker-Gordon Syndrome	Joint laxity, Epicanthus, Scoliosis, Prominent nasal tip, Short nose	OMIM:618218
Recon Progeroid Syndrome	Joint laxity, Attached earlobe, Prominence of the premaxilla, Arachnodactyly, Anteverted nares, P...	OMIM:620370
Meier-Gorlin Syndrome 3	Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow ch...	OMIM:613803
Monosomy 9P	Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Micrognathia, Synophrys...	ORPHA:261112
Temtamy Syndrome	Pes planus, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, T...	OMIM:218340
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Hy...	ORPHA:3130
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia, Abnormality of the elbow, Joint hyperflexibility	ORPHA:2220
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Hypertelorism...	OMIM:619194
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal nasal mor...	ORPHA:3224
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Crouzon Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Abnorma...	ORPHA:207
Zimmermann-Laband Syndrome	Hallux valgus, Pes planus, Wide nose, Micrognathia, Short neck, Supernumerary tooth, Bulbous nose...	ORPHA:3473
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Atrial septal defect, Prominent fingertip pads, Atriov...	OMIM:300867
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Increased overbite, Long ph...	OMIM:618761
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, Shor...	OMIM:616364
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot...	ORPHA:251056
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Hartsfield Syndrome	Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasi...	ORPHA:2117
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gla...	ORPHA:2234
Geroderma Osteodysplastica	Beaking of vertebral bodies, Pes planus, Mandibular prognathia, Talipes, Recurrent fractures, Hip...	ORPHA:2078
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Charge Syndrome	Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormality of bone min...	ORPHA:138
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo...	ORPHA:2563
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Microcephaly, Cleft lip, Cryptorchidism, Kyphosis, Hyper...	OMIM:619123
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Osteopenia, Death in infancy, Anteverted nares, Depressed nasal br...	OMIM:615789
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Tapered finger, Hypertelorism, Conductive hearing impair...	OMIM:618672
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri...	OMIM:614207
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Abnormal ...	ORPHA:293725
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin...	ORPHA:79474
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,...	OMIM:613870
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand...	OMIM:246560
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Short neck, Brachycephaly, High palate, Atrial septa...	OMIM:612582
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp...	ORPHA:324964
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Hearin...	ORPHA:2077
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di...	OMIM:613406
Joubert Syndrome 37	Frontal bossing, Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Pos...	OMIM:619185
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Death in childhood, Progressive alv...	OMIM:252500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Antev...	ORPHA:314655
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L...	OMIM:615866
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Edema of the dorsum of feet,...	ORPHA:521426
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Underdeveloped nas...	OMIM:619005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Brachyceph...	OMIM:619950
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Deep philtrum, Hypotelorism, Deeply set eye, Vertebral segmentation d...	OMIM:612530
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Microcephaly, Hypertelorism, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide m...	OMIM:617333
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Osteoporosis, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodactyly	OMIM:614838
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later...	OMIM:161200
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ...	ORPHA:319675
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, High, narrow palate, Deeply set eye, Abnormal sternum morphology, High pal...	OMIM:614816
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Metatarsus adductus, Hypopla...	ORPHA:293939
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Inguinal hernia, Hypogonadotropic hypogonadism, Choanal at...	ORPHA:1135
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Short stature, Postnatal growth retardation, Upper limb asymmetry, High palate, ...	ORPHA:231140
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia...	ORPHA:94066
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Decreased circulating osteocalcin level, Short nose, Central diabetes insi...	OMIM:125700
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus, Anal atresia	OMIM:222748
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Joint laxity, Arachnodactyly, Overlapping toe, Rhizomeli...	ORPHA:3379
Neuralgic Amyotrophy	Scapular winging, Cleft palate, Respiratory insufficiency, Narrow mouth, Sprengel anomaly, Acrocy...	ORPHA:2901
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Delayed skeletal maturation, Hip osteoarthritis, Joint hyperflexibilit...	ORPHA:63442
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage, Mac...	ORPHA:2867
Man1B1-Cdg	Flat occiput, Prominent nose, Short neck, Pectus carinatum, Short philtrum, Clinodactyly of the 5...	ORPHA:397941
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo...	OMIM:244460
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Bilateral single transverse palmar creases, Non-midline cleft lip, C...	ORPHA:1770
Spondyloepiphyseal Dysplasia, Kimberley Type	Flat capital femoral epiphysis, Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum	OMIM:608361
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S...	ORPHA:1772
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,...	ORPHA:1855
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Prom...	OMIM:305450
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin...	ORPHA:391474
Mcdonough Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Pectus excavatum, Promine...	ORPHA:2471
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Cervical kyphosis, Generalized joint laxity, Abnormal sternum morpholog...	ORPHA:2953
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Cone-shaped epiphysis, Platyspon...	ORPHA:71267
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Recurrent respiratory infections, Respiratory distress, Ext...	ORPHA:329178
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met...	ORPHA:99646
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
Weill-Marchesani Syndrome	Short thumb, Limitation of joint mobility, Brachydactyly	ORPHA:3449
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Neonatal respirat...	ORPHA:457193
Warburg Micro Syndrome 3	Small scrotum, Kyphoscoliosis, Blepharophimosis, Micrognathia, Hypoplastic labia minora, Flexion ...	OMIM:614222
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Galactosemia Ii	Cataract	OMIM:230200
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove...	OMIM:619793
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Brachycephaly, Hypotelorism, Protruding ear, Deeply set eye, O...	OMIM:309590
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Frontal bossing, Anteverted nares, Prominent nasal bridge, Dental crow...	OMIM:618825
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pec...	OMIM:115150
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Lack of fa...	ORPHA:2959
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Meester-Loeys Syndrome	Joint dislocation, Abnormal sternum morphology, High palate, Joint contracture, Bifid uvula, Arac...	OMIM:300989
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Choanal atresia, Micrognathia, J...	ORPHA:1300
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Obesity, Malar flattening, Short nose, Retrognathi...	OMIM:613670
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Jacobsen Syndrome	Flat occiput, Micrognathia, Short neck, Flexion contracture, Clitoral hypoplasia, Atrial septal d...	OMIM:147791
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Epicanthus, Depressed nasal bridge, Prominent metopic ridge, Cr...	ORPHA:576
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, High palate, Narrow chest, Microdontia, Premature loss of teeth, Decre...	ORPHA:50814
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ac...	OMIM:277590
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Craniosynostosis 2	Frontal bossing, Turricephaly, Wormian bones, Cleft soft palate, Craniosynostosis, Unicoronal syn...	OMIM:604757
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Single transverse palmar crease, Short neck, Th...	OMIM:614800
Mccune-Albright Syndrome	Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Aneurysmal bone cyst, Hype...	ORPHA:562
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Triploidy	Hypoplasia of penis, Micrognathia, Short neck, Narrow chest, Decreased skull ossification, Low-se...	ORPHA:3376
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Microcephaly, Pectus excavatum, Hypertelorism, Overfolded helix, Larg...	OMIM:619092
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Atrial septal defect, Dislocated radial hea...	OMIM:605039
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Aplasia of the epiglottis, Narrow chest, Atrioventricular canal defect, Dep...	OMIM:617088
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single trans...	OMIM:617527
Ellis-Van Creveld Syndrome	Epispadias, Pectus carinatum, Ectodermal dysplasia, Narrow chest, Hypoplastic iliac wing, Atrial ...	OMIM:225500
Dacryocystitis-Osteopoikilosis Syndrome	Dacryocystitis, Increased bone mineral density, Lacrimation abnormality, Osteopoikilosis	ORPHA:1562
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmon...	ORPHA:1692
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib...	OMIM:613982
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Depr...	OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Microcephaly, Hyperlordosis, Kyphosis, Achilles tendon contr...	OMIM:606612
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Aganglionic megacolon, Anteverted nares, Esophageal atresia...	ORPHA:59315
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Absent external genitalia, Missin...	OMIM:271520
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Microcephaly, Pectus excavatum, Esophageal atresia, Muscular ventricu...	OMIM:619227
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Micrognathia, Lacrimation abnormality, Abnormal denta...	ORPHA:534
Char Syndrome	No permanent dentition, Depressed nasal ridge, Short philtrum, Clinodactyly of the 5th finger, Me...	ORPHA:46627
Trisomy 18	Pointed helix, Atrial septal defect, Bilateral single transverse palmar creases, Microretrognathi...	ORPHA:3380
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Dental crowdin...	ORPHA:261323
Peroxisome Biogenesis Disorder 2A (Zellweger)	Turricephaly, Apnea, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Dolichoc...	OMIM:214110
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Long philtrum	OMIM:300887
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Clitoral hypertrophy, Flat occiput, Arachnodactyly, Micrognathia, Microceph...	ORPHA:2707
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum...	ORPHA:567
Fanconi Anemia, Complementation Group I	Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ...	OMIM:609053
Waardenburg Syndrome Type 3	Narrow nasal bridge, Atrial septal defect, Tented upper lip vermilion, Camptodactyly of finger, H...	ORPHA:896
Esophageal Atresia	Respiratory distress, Bronchitis, Clinodactyly, Abnormality of the ear, Aspiration, Abnormal vert...	ORPHA:1199
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Wide mouth, Long philtrum, Short nose	OMIM:608776
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro...	ORPHA:352540
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia ...	ORPHA:560
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Anophthalmia Plus Syndrome	Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ...	ORPHA:1104
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Abnormal vertebral mo...	ORPHA:261272
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Short neck, High palate, Short palm, Anteverted nares, Depressed nasal bridge, Tape...	OMIM:272430
Non-Distal Deletion 10Q	Brachydactyly, Wide nasal bridge, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral ...	ORPHA:1581
Lamb-Shaffer Syndrome	Broad nasal tip, Micrognathia, Microcephaly, Decreased head circumference, Fused cervical vertebr...	ORPHA:530983
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Keppen-Lubinsky Syndrome	Decreased testicular size, Narrow nasal bridge, Failure to thrive, Lipodystrophy, Micrognathia, U...	ORPHA:435628
Trisomy 17P	Hypoplasia of penis, Micrognathia, Prominent nose, Short neck, Flexion contracture, Orofacial cle...	ORPHA:261290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Narrow chest, Atrial sept...	ORPHA:280633
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, ...	ORPHA:398156
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Micrognathia, Prominent nose, Long fingers, Underdeveloped nasal alae, Hip disloc...	ORPHA:447980
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Abnormality of the uterus, Atrial sept...	ORPHA:2970
Mgat2-Cdg	Osteopenia, Respiratory distress, Dental crowding, Low-set, posteriorly rotated ears, Hypertelori...	ORPHA:79329
Lacrimoauriculodentodigital Syndrome	Micrognathia, Abnormal salivary gland morphology, Abnormal digit morphology, Syndactyly, Finger s...	ORPHA:2363
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Na...	ORPHA:93946
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Weakness of the intrinsic h...	ORPHA:98913
Peho Syndrome	Tented upper lip vermilion, Edema of the dorsum of feet, Tapered finger, Open mouth, Retrognathia...	OMIM:260565
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Congenital hip dislocation, Hypotelorism, Protruding ear, Deeply set eye, High palate...	OMIM:612940
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Broad nasal tip, ...	OMIM:614749
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Wide nose, Left ve...	ORPHA:79330
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Ventricular...	ORPHA:1782
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia, Microcephaly, Hypertelorism, Bulbous nose, Wide nasal bridge,...	ORPHA:261304
Cornelia De Lange Syndrome	Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Downturned corners of mouth, W...	ORPHA:199
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Joubert Syndrome 10	Frontal bossing, Postaxial polydactyly, Deep philtrum, Wide nasal bridge, Thick vermilion border,...	OMIM:300804
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Single transverse palmar crease, Microcephaly, Muscular ventricular septal defect, Adducted thumb...	OMIM:620062
Auriculoosteodysplasia	Abnormal clavicle morphology, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius,...	ORPHA:114
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Flexion contracture, Abnormal form of th...	ORPHA:581
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Long nose, Oligodontia, Hig...	OMIM:612313
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Hyperlordosis, Narrow ...	ORPHA:1323
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	OMIM:601794
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb, Duodenal atresia	OMIM:617784
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin...	ORPHA:364577
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Cyanosis, Abnormal coronary artery morphology, Ventricul...	ORPHA:860
Keutel Syndrome	Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Ventricular septal defect, H...	ORPHA:85202
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal vertebr...	OMIM:276950
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Abnormali...	ORPHA:90154
Ring Chromosome 10 Syndrome	Frontal bossing, Sandal gap, Aganglionic megacolon, Micrognathia, Pectus excavatum, Tapered finge...	ORPHA:1438
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced er...	ORPHA:1519
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Short neck, Rectal prolapse, Short metatarsal, Brachycephaly, Deeply set eye, Hi...	OMIM:617157
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Hydrolethalus	Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyd...	ORPHA:2189
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia...	ORPHA:1974
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Epicanthus, Small scrotum, Cryptorchidism, Synophrys, Wide nasal bridge, Scoliosis, Thick eyebrow...	ORPHA:1970
Double Outlet Right Ventricle	Cyanosis, Depressed nasal bridge, Intestinal malrotation, Ventricular septal defect, Hyperteloris...	ORPHA:3426
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg...	ORPHA:3078
Müllerian Aplasia And Hyperandrogenism	Short neck, Cleft palate, Shield chest, Short philtrum, Cubitus valgus, Brachydactyly	ORPHA:247768
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Microcephaly, Pa...	OMIM:613804
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Premature thelarche, Protruding ear, Deeply set eye, Widely spaced teeth, Micropenis, Hypospadias...	ORPHA:268261
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho...	OMIM:216100
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis, Posterior fusion of lumbosacral vertebrae	OMIM:192800
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent...	ORPHA:2314
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Anosmia, Osteoporosis, Cleft palate, Genu valgum	OMIM:614880
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, Synophrys, Highly arched eyebrow, Bul...	OMIM:615803
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, De...	OMIM:214100
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Prominent nose, Tapered finger, Long fingers, Microcephaly, Thick lower lip vermilion, Simplified...	OMIM:614407
Okur-Chung Neurodevelopmental Syndrome	Single transverse palmar crease, Micrognathia, Simplified gyral pattern, High palate, Clinodactyl...	OMIM:617062
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Hypertelorism, Patent ductus arteriosus,...	ORPHA:2095
Noonan Syndrome	Micrognathia, Pectus carinatum, Enlarged thorax, High palate, Thickened helices, Clinodactyly of ...	ORPHA:648
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
9Q21.13 Microdeletion Syndrome	Talipes, Craniosynostosis, Wide nasal ridge, Abnormal tongue morphology, Downturned corners of mo...	ORPHA:531151
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Hypertelorism, Sensor...	OMIM:109120
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Schilbach-Rott Syndrome	Hypospadias, Posteriorly rotated ears, Prominent nose, Micrognathia, Long nose, 2-3 toe cutaneous...	OMIM:164220
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, ...	OMIM:612863
Acromelic Frontonasal Dysplasia	Median cleft lip, Broad nasal tip, Bifid nasal tip, Patellar hypoplasia, Wide mouth, Talipes equi...	ORPHA:1827
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Hypoplasia of th...	OMIM:106260
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Hypertelorism, Postaxial foot po...	OMIM:174300
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala...	OMIM:181180
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Clinodactyly of ...	ORPHA:96182
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Downturned corners of mou...	ORPHA:329224
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Short palm, Clino...	ORPHA:264200
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Anteverted nares, Prominent nasal bridge, Short 5th finger, Scoliosis, Acromesomeli...	ORPHA:500159
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Microphthalmia, Syndromic 3	Vertebral fusion, Frontal bossing, Ventricular septal defect, Hypogonadotropic hypogonadism, Hypo...	OMIM:206900
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A...	ORPHA:2461
19P13.12 Microdeletion Syndrome	Short neck, Brachycephaly, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Cond...	ORPHA:254346
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Pectus excavatum, Reduced bone mineral density, Long fibula...	ORPHA:935
Erythrokeratodermia Variabilis	Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger	ORPHA:317
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Pulmonary arter...	ORPHA:1908
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca...	OMIM:619657
Alkuraya-Kucinskas Syndrome	Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal foot morphology...	OMIM:617822
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Synophrys, Upslanted palpebral fissure, Macroorchidism, Short nose, Joint ...	OMIM:300143
Al Kaissi Syndrome	High, narrow palate, Hemivertebrae, Brachycephaly, Atrial septal defect, Depressed nasal bridge, ...	OMIM:617694
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Sandal gap, Tapered finger, Cleft lip, Small hand, Cleft palate, Downturned corners o...	OMIM:618089
Genitopatellar Syndrome	Small scrotum, Apnea, Hypoplastic ischia, Micrognathia, Prominent nose, Knee flexion contracture,...	ORPHA:85201
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyl...	OMIM:615996
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Pes planus, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, ...	OMIM:618050
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Pectus excavat...	OMIM:616817
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Short nose,...	OMIM:616420
Trisomy 10P	Thumb contracture, Anteverted nares, Depressed nasal bridge, Abnormality of the hand, Micrognathi...	ORPHA:171929
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Single transverse palma...	OMIM:619720
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, Deep philtrum, Protruding ear, Deeply set eye, Short philtrum, J...	OMIM:620098
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol...	ORPHA:887
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Clinodactyly of the 5th finger, Micropenis, Small ...	ORPHA:96092
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxill...	OMIM:613805
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec...	OMIM:618348
Autosomal Recessive Hypophosphatemic Rickets	Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge...	ORPHA:289176
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po...	OMIM:607361
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Deeply set eye, High palate, Atrial septal defect, Patent foramen ovale, Long philt...	OMIM:270450
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Hyperte...	ORPHA:90646
Meckel Syndrome, Type 10	Occipital encephalocele, Frontal bossing, Ulnar deviation of the hand, Hypospadias, Sacral dimple...	OMIM:614175
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Frontal bossing, Abnormal mitral valve morphology, Prominent nose, Microcep...	ORPHA:1292
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atr...	OMIM:300166
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Anteverted nares, Postaxial po...	OMIM:616362
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Abnormal nostril morphology, Anal atresia, Narrow mouth	ORPHA:3469
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, narrow palate, Depr...	OMIM:607597
Craniofacioskeletal Syndrome	Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B...	OMIM:300712
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Mi...	OMIM:615873
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bi...	OMIM:300219
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Short neck, Pectu...	ORPHA:488632
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Micrognathia, Short neck, Intrauterine growth retardation, Micropenis, Anteverted nares, Cleft so...	ORPHA:2282
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerar...	ORPHA:1812
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Cataract, Retinal coloboma	ORPHA:363741
Coffin-Siris Syndrome 12	Micrognathia, Hypotelorism, Protruding ear, Deeply set eye, High palate, Patent foramen ovale, Si...	OMIM:619325
You-Hoover-Fong Syndrome	Kyphoscoliosis, Accessory oral frenulum, Pectus excavatum, Cleft palate, Clinodactyly, Brachydactyly	OMIM:616954
Coffin-Siris Syndrome 11	Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted ear...	OMIM:618779
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Diamond-Blackfan Anemia	Radial artery aplasia, Micrognathia, Short neck, High palate, Triphalangeal thumb, Adenocarcinoma...	ORPHA:124
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Single transverse palmar crease, Micrognathia, Secundum atrial septal defect, Deep philtrum, Shor...	OMIM:619951
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Metaphyseal widening, Flexion contracture, Pectus carinatum, De...	OMIM:617303
Ohdo Syndrome, X-Linked	Small scrotum, Micrognathia, Prominent nose, High palate, Narrow chest, Widely spaced teeth, Micr...	OMIM:300895
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Epicanthus, Tapered finger, Wide nasal b...	OMIM:613603
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Atrial septal de...	ORPHA:261330
Cutis Laxa, Autosomal Recessive, Type Iia	Pes planus, Congenital hip dislocation, Anteverted nares, Carious teeth, Narrow mouth, Wide anter...	OMIM:219200
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Cryptorchidism, Wide anterior...	OMIM:300963
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Hypoplasia of penis, Diabetes mellitus, Hypos...	ORPHA:2315
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Microcephaly, Anteverted ears, Wi...	ORPHA:544254
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Long palm, Intestinal malrotation, Single t...	OMIM:244450
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping toe, High, narrow palate, Bulbous nose, Cleft palate, Anter...	OMIM:618494
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrognathia	OMIM:619981
Adnp Syndrome	Respiratory distress, Single transverse palmar crease, Abnormal finger morphology, Brachycephaly,...	ORPHA:404448
Ayme-Gripp Syndrome	Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Tapered finger, Hypertelorism, Wide...	OMIM:601088
Weill-Marchesani Syndrome 3	Joint stiffness, Brachydactyly	OMIM:614819
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ...	ORPHA:99413
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Spinal rigidity, Flexion contracture, Dilated cardiomyopathy, Myocardial f...	OMIM:253800
Aspergillosis	Sinusitis, Abnormal long bone morphology, Intracranial hemorrhage, Cough, Chronic pulmonary obstr...	ORPHA:1163
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Micrognathia, Missing ribs, Short neck, Hypertelorism, Abnormal rib morp...	ORPHA:1834
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Thick nasal alae, Persistence of primary teeth, Conical tooth, Clinodac...	OMIM:618727
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ...	OMIM:619122
Dpm1-Cdg	Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Micrognathia, High, narrow palate...	ORPHA:79322
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Bulbous nose, Craniofacial ...	OMIM:618476
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Abnormal pinna morphology, Cleft upper lip, Short neck, Sensorineural ...	OMIM:214300
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Micrognathia, Cardiomegaly, Neonatal death, Anteverted nares, Depres...	OMIM:608013
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing imp...	ORPHA:3236
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
15q26 overgrowth syndrome	Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Taper...	DECIPHER:81
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu...	OMIM:253220
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle...	ORPHA:261236
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Frontal bossing, Turricephaly, Wide cranial sutures, Recurrent fra...	OMIM:616294
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, 2-3...	OMIM:617164
49,Xxxyy Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormalit...	ORPHA:261534
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Chromosome 5Q12 Deletion Syndrome	Long toe, Frontal bossing, Sacral dimple, Ventricular septal defect, Posteriorly rotated ears, Pr...	OMIM:615668
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Pectus carinatum, Long p...	OMIM:616430
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Gingival overgrowth, Pectus carinatum, H...	ORPHA:79255
Short Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Hypertelorism, Abnormal zygomati...	ORPHA:3163
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Hemive...	OMIM:302960
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose	ORPHA:1355
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Underfolded helix, Cutis marmorata, Short neck, Hyper...	OMIM:157980
Kapur-Toriello Syndrome	Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Single transverse palmar crease...	OMIM:244300
Distal Deletion 6P	Wide nose, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, ...	ORPHA:96125
C Syndrome	Micromelia, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger, Bilateral sing...	ORPHA:1308
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Anteverted nares, Increased intervertebral space, Thick ...	OMIM:619727
Stevens-Johnson Syndrome	Dyspareunia, Entropion, Conjunctivitis, Weight loss	ORPHA:36426
Wiedemann-Steiner Syndrome	Decreased response to growth hormone stimulation test, Accelerated skeletal maturation, Synophrys...	ORPHA:319182
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short neck, Brachycephaly, Thorac...	OMIM:212066
Shwachman-Diamond Syndrome 1	Ovoid vertebral bodies, Anterior rib cupping, Metaphyseal sclerosis, Metaphyseal chondrodysplasia...	OMIM:260400
Pontine Tegmental Cap Dysplasia	Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive, Ptosis	OMIM:614688
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, Pectus carinatum, ...	OMIM:616449
Distal Triplication 15Q	Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Atrial septal defect...	ORPHA:314588
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Lower limb asymmetry, Abnormal...	ORPHA:2063
Chromosome 18P Deletion Syndrome	Barrel-shaped chest, Toe syndactyly, Anteverted nares, Posteriorly rotated ears, Micrognathia, Sh...	OMIM:146390
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced...	OMIM:300967
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia...	ORPHA:3027
Toluene Embryopathy	Epicanthus, Micrognathia, Tapered finger, Cryptorchidism, Hypoplasia of the zygomatic bone, Short...	ORPHA:1920
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea...	OMIM:607014
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Joint laxity, Arachnodactyly, Osteoporosis...	ORPHA:284984
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Abnormality of the knee, Scapular winging, Respiratory distress, Hypoventi...	ORPHA:98915
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Microg...	OMIM:608572
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ...	OMIM:614120
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept...	OMIM:166200
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Pectu...	ORPHA:357001
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
17Q24.2 Microdeletion Syndrome	Micrognathia, Short neck, Deeply set eye, Short philtrum, Abnormality of the wrist, Hypertelorism...	ORPHA:529962
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, Protruding ear, Deeply set eye, High palate, Short philtrum, Clinodactyly of the 5t...	OMIM:618443
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, B...	OMIM:612289
Stankiewicz-Isidor Syndrome	Sacral dimple, Ventricular septal defect, Hypospadias, Micrognathia, Absent thumb, Short thumb, P...	OMIM:617516
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,...	OMIM:616738
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Premature...	OMIM:113620
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Flat occiput, Micrognathia, Short neck, High palate, Narrow chest, Protein-losing enteropathy, Mi...	OMIM:235255
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Laryn...	OMIM:618454
Cataract 47	Microcornea, Cataract	OMIM:612018
Xeroderma Pigmentosum, Variant Type	Entropion, Conjunctivitis, Ectropion	OMIM:278750
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Bro...	OMIM:272950
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Tapered finger, Short 3rd toe, Short thumb, Hypothyroidism, Split hand, Wide nasal br...	OMIM:618569
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint stiffness, Kyphosis, Short nose, Pectus carinatum, Talipes equinova...	OMIM:617988
Chops Syndrome	Anteverted nares, Ventricular septal defect, Thickened helices, Microcephaly, Hypertelorism, High...	OMIM:616368
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Brachycephaly, Knee fle...	OMIM:259050
Scarf Syndrome	Bifid scrotum, Ptosis, Inguinal hernia, Epicanthus, Craniosynostosis, Short neck, Cryptorchidism,...	ORPHA:3134
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi...	OMIM:216400
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Abnormal nasal morphology, Hip dislocation, Limited pronation/su...	ORPHA:293843
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Anteverted nares, Bulbous nose, Thick lower lip vermilion, Gingival ove...	OMIM:220500
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:133540
Fanconi Anemia, Complementation Group P	Micrognathia, Absent thumb, Short thumb, Bulbous nose, Hypoplasia of the radius	OMIM:613951
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly, Short nose	OMIM:618087
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate	OMIM:607371
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Broad hallux, ...	OMIM:301044
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Knee osteoarthritis, Osteoporosis,...	ORPHA:2848
Xeroderma Pigmentosum, Complementation Group D	Keratoconjunctivitis sicca, Entropion, Conjunctivitis, Ectropion	OMIM:278730
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing imp...	OMIM:102500
Xeroderma Pigmentosum, Complementation Group E	Entropion, Conjunctivitis, Ectropion	OMIM:278740
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Menke-Hennekam Syndrome 1	Micrognathia, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of toes, Clinodact...	OMIM:618332
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Ectrodactyly...	OMIM:147950
Maternal Phenylketonuria	Anteverted nares, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Eso...	ORPHA:2209
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max...	OMIM:302350
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Microcephaly, Flexion contracture, 2-3 toe syndactyly, Ging...	OMIM:618186
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Ventricular septal defect, Tapered finger, Hypopla...	OMIM:609460
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Syndactyly, Wide nose, Sacral dimple, Broad hallux, Hypospadias, Posteriorly rotat...	OMIM:239710
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi...	ORPHA:217085
Cerebrooculonasal Syndrome	Brachycephaly, Downturned corners of mouth, High palate, Conductive hearing impairment, Long phil...	OMIM:605627
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Micrognathia, Missing ribs,...	ORPHA:3301
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se...	ORPHA:289
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 36	Microcephaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def...	OMIM:619170
Toxic Epidermal Necrolysis	Weight loss, Abnormal vagina morphology, Conjunctivitis, Entropion	ORPHA:537
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, ...	OMIM:268850
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S...	OMIM:620072
Xeroderma Pigmentosum, Complementation Group A	Entropion, Conjunctivitis, Ectropion	OMIM:278700
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Abnormality of t...	ORPHA:2308
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Mitral valve prola...	OMIM:601216
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Right atrial enlargem...	OMIM:614008
Tetrasomy 12P	Delayed eruption of teeth, Telecanthus, Anteverted nares, Cachexia, Short neck, Sparse eyebrow, D...	ORPHA:884
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ...	OMIM:618356
Morbid Obesity And Spermatogenic Failure	Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility	OMIM:615703
Brachycephaly, Trichomegaly, And Developmental Delay	Flat occiput, Depressed nasal bridge, Single transverse palmar crease, Microcephaly, Conductive h...	OMIM:617412
Woolly Hair Nevus	Brachydactyly, Widely-spaced incisors	ORPHA:79414
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Xeroderma Pigmentosum, Complementation Group C	Entropion, Conjunctivitis, Ectropion	OMIM:278720
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent vei...	ORPHA:536532
Peho Syndrome	Anteverted nares, Tapered finger, Flexion contracture, Limitation of joint mobility, Gingival ove...	ORPHA:2836
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Micrognathia, Short neck, Ambiguous genital...	OMIM:249000
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, Hypotelorism, Premature graying of hair, High palate, A...	OMIM:619488
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi...	ORPHA:217093
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Br...	ORPHA:261494
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Cardiomegaly, Abnormal retinal arte...	ORPHA:51608
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Bresek Syndrome	Aganglionic megacolon, Postaxial hand polydactyly, Hemivertebrae, Cleft palate, Scoliosis, Neonat...	ORPHA:85284
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Depressed nasal bridge, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 fing...	OMIM:620029
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Brachycephaly, Anter...	ORPHA:247262
Noonan Syndrome 1	Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, High palate, Atrial s...	OMIM:163950
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Mandibular prognathia, Synophrys, Pectus carinatum, Long toe, Hypospadias, Ara...	ORPHA:3063
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Esophageal atresia, Hypoplasia of the radius, Hip dislocatio...	ORPHA:3412
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Micrognathia, Rectal prolapse, Death in childhood, E...	OMIM:613177
Cutis Laxa, Autosomal Recessive, Type Iiia	Prominent superficial blood vessels, Congenital hip dislocation, Brachycephaly, Hypotelorism, Nar...	OMIM:219150
Genitopatellar Syndrome	Small scrotum, Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture...	OMIM:606170
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Osteopenia, Thickened ribs, Short neck, Brachycephaly, Pectus carinatum, C...	ORPHA:309282
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Choanal atresia, Short thumb, Osteoporosis, Cleft palate, ...	OMIM:612562
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Narrow chest, Bifid uvula, Joint laxity, Anteverted nares, Hypertelorism...	OMIM:607812
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Single transverse palmar crease, Reduced forced expiratory volume in one second, Increased verteb...	OMIM:613385
Native American Myopathy	Joint laxity, Micrognathia, Cryptorchidism, Conductive hearing impairment, Cleft palate, Abnormal...	ORPHA:168572
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Increased vertebral height, Depressed nasal ridge, Gingival overgrowth, Fe...	OMIM:248500
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad ribs, Broad metacarpals, Depressed nasal bridge, Tapered finger, Precocious puberty, Cleft ...	OMIM:301066
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, High...	OMIM:278250
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Downturned corners of mouth, Short philtrum, Atrial septal defect, Microd...	OMIM:617360
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Simplified gyral pattern...	OMIM:615948
Microphthalmia, Isolated 8	Entropion, Short palpebral fissure	OMIM:615113
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Subcortical band heterotopia, ...	OMIM:618737
Adams-Oliver Syndrome 6	Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly	OMIM:616589
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Postaxial hand polydacty...	OMIM:607330
Fryns Syndrome	Bifid scrotum, Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of...	OMIM:229850
Adenylosuccinate Lyase Deficiency	Prominent metopic ridge, Short nose, Anteverted nares	ORPHA:46
Deeah Syndrome	Prominent nasal tip, Cervical hemivertebrae, Epicanthus, Decreased response to growth hormone sti...	OMIM:619004
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Atrial septal defect, Arachnodactyly, Micrognathia, Underdeveloped nasal alae, Hype...	OMIM:300986
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Bicuspid aortic valve, High palate, Atrial septal defect, Patent fora...	ORPHA:457279
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,...	OMIM:141400
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Protruding t...	OMIM:619777
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Micrognathia, Protruding ear, Sprengel anomaly, Microp...	ORPHA:293967
Cranioectodermal Dysplasia 3	Joint laxity, Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa...	OMIM:614099
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Pos...	OMIM:614424
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Thick lower lip vermilion, N...	OMIM:608624
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f...	ORPHA:1449
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Broad nasal tip, Submucous clef...	OMIM:619680
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Hamamy Syndrome	Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Atrial sept...	OMIM:611174
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas...	OMIM:616367
Keutel Syndrome	Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys...	OMIM:245150
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Hypertelori...	OMIM:156400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Posteriorly ro...	OMIM:619314
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os...	ORPHA:371428
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge, Highly arched eyebrow, Ptosis	ORPHA:438178
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint...	OMIM:618914
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Peters Plus Syndrome	Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Brachycephaly, Abnormal pulmonary...	ORPHA:709
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Single transverse palmar crease, Elbow contracture, Micrognathia, Hypotelori...	OMIM:615656
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality, Mandibular pain	OMIM:167400
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Fg Syndrome 5	Epicanthus, Depressed nasal bridge, Hypospadias, Anteverted nares, Upslanted palpebral fissure, M...	OMIM:300581
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,...	ORPHA:353277
Down Syndrome	Single transverse palmar crease, Brachycephaly, Hypoplastic iliac wing, Atrial septal defect, Sho...	OMIM:190685
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd...	OMIM:129400
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Short philtrum, Abnormal bone...	ORPHA:79324
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Flat occiput, Short neck, High, narrow palate, Prominent protruding coccyx, Protrudin...	OMIM:300966
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Hypoplasia of the uterus, A...	OMIM:601076
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered fing...	OMIM:615560
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Coffin-Siris Syndrome	Delayed eruption of teeth, Joint laxity, Hypospadias, Anteverted nares, Depressed nasal bridge, B...	ORPHA:1465
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Respiratory distress, Congenital hip dislocation, Prominent nose, Brachycephaly, Abno...	ORPHA:480880
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Downturned corners of mouth, Abnormal sternum morphology, Short phil...	OMIM:616737
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Short ...	OMIM:619750
Refsum Disease	Short metacarpal, Sensorineural hearing impairment, Anosmia, Respiratory insufficiency, Cardiomyo...	ORPHA:773
Lathosterolosis	Abnormal thoracic spine morphology, Toe syndactyly, Anteverted nares, Talipes, Micrognathia, Post...	ORPHA:46059
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Chromosome 1P35 Deletion Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Microcephaly, Cryptorchidism, H...	OMIM:617930
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Dolichocephaly, Pectus excavatum, Hypoplasia of t...	ORPHA:1101
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Joint s...	ORPHA:1915
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Crypt...	ORPHA:90321
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Epicanthus, Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Short nose, Fa...	OMIM:615851
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, M...	OMIM:300580
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit...	OMIM:202650
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat...	ORPHA:109
Scarf Syndrome	Bifid scrotum, Barrel-shaped chest, Inguinal hernia, Epicanthus, Prominent nasal bridge, Short ne...	OMIM:312830
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ...	ORPHA:137914
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen...	OMIM:259770
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist...	ORPHA:1647
X Small Rings	Joint laxity, Thin upper lip vermilion, Toe syndactyly, Anteverted nares, Tapered finger, Short n...	ORPHA:96201
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:994
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Epicanthus, Rhizomelia, Single transverse palmar crease, Decreased res...	OMIM:614114
Distal Deletion 15Q	Flat occiput, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutan...	ORPHA:1596
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Excessive skin wrinkling on dor...	ORPHA:2834
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Underdeveloped nasal alae, Cleft palate, Short distal phalanx of finger	OMIM:601355
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Deeply set eye, High ...	ORPHA:261337
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Abnormal finger morpho...	ORPHA:3194
Intermediate Uveitis	Cataract, Vitreous haze, Macular scar, Band keratopathy, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Gastric ulcer, Short phalanx of finger, Dysplasia of second lumbar vertebra	OMIM:208060
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Low-set, posteriorly rotated ears, Hypospadias, Tapered finger, Prominent c...	ORPHA:261311
Ritscher-Schinzel Syndrome 4	Brachycephaly, Hypotelorism, Deeply set eye, High palate, Short philtrum, Micropenis, Tapered fin...	OMIM:619435
Williams Syndrome	Osteopenia, Hypoplasia of penis, Micrognathia, Abnormal form of the vertebral bodies, Vertebral s...	ORPHA:904
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ...	OMIM:135900
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce...	OMIM:614886
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Anteverted nares, Depressed nasal bridge, Micrognathia, Microce...	OMIM:612731
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Fryns Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Abnormal aortic arch morphology, High palat...	ORPHA:2059
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, C...	ORPHA:261537
Arterial Tortuosity Syndrome	Carotid artery dissection, Micrognathia, Flexion contracture, Pectus carinatum, High palate, Bifi...	OMIM:208050
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb...	OMIM:252940
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Rhiny	Inguinal hernia, Anteverted nares, Short nose	OMIM:180360
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Microcephaly	ORPHA:2435
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Frontal bossing, Tapered finger, Micrognathia, Microcephaly, Kyphosis, Hypertelorism,...	ORPHA:2479
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Hydranencephaly, Ventricular septal defect, Trac...	ORPHA:1393
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Wide nasal bridge, Short distal phalanx of finger	ORPHA:1563
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Proximal placement of thumb, Long nose, High palate, Clinodactyly of the 5th finger, Pulmonary ar...	OMIM:620113
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Rauch-Steindl Syndrome	Attached earlobe, Sacral dimple, Depressed nasal bridge, Miscarriage, Micrognathia, Prominent cru...	OMIM:619695
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Mowat-Wilson Syndrome	Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, C...	ORPHA:2152
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Schimke Immunoosseous Dysplasia	Osteopenia, Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Small for gesta...	OMIM:242900
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Microcephaly, ...	OMIM:616038
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori...	OMIM:620294
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia, Duodenal atresia	ORPHA:3004
Desmosterolosis	Epicanthus, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Failure to thrive, Micrognath...	OMIM:602398
Oculoskeletodental Syndrome	Elbow flexion contracture, Wide nasal bridge, Macroglossia, Oligodontia, Abnormal sternum morphol...	OMIM:618440
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate...	OMIM:617063
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Glue ear, Cutis marmorata, Broad nasal tip, Bifid nasal tip, Se...	OMIM:619758
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou...	OMIM:225060
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis, Microcephaly	OMIM:617977
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Prominent metopic ridge, Palpebral edema, Depressed nasal brid...	ORPHA:261144
Meacham Syndrome	Bicuspid aortic valve, Blind vagina, Death in childhood, Scimitar anomaly, Atrial septal defect, ...	OMIM:608978
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia, Under...	OMIM:614098
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Anterior beaking of lu...	OMIM:230000
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Absent eyebrow, Hypoplasia of eyel...	OMIM:200110
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Kyphoscoliosis, Hypertelorism, Cryptorchidism, Short toe, Deep philtrum, P...	ORPHA:404443
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Polymicrogyria, Primary microcephaly	ORPHA:171703
Keratosis Pilaris Atrophicans	Absent eyelashes, Epiphora, Sparse eyebrow	OMIM:604093
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti...	OMIM:164210
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Mandibular prognathia, Epicanthus, Failure to thrive, Lipoat...	ORPHA:2963
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h...	OMIM:620011
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Carious teeth, Mandibular osteomyelitis, G...	ORPHA:53
Tetrasomy 9P	Joint dislocation, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mou...	ORPHA:3310
Congenital Disorder Of Deglycosylation 2	Sacral dimple, Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Hamartoma of tongue, Mic...	OMIM:619775
Brachyolmia, Maroteaux Type	Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:93302
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor...	OMIM:620186
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Ventricular septal d...	ORPHA:96129
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Micrognathia, Micropenis, Syndactyly, Clitoral hypertrophy, Streak ova...	OMIM:618820
Neonatal Marfan Syndrome	Micrognathia, High, narrow palate, Flexion contracture, Pectus carinatum, Enlarged thorax, Deeply...	ORPHA:284979
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Cutis Laxa, Autosomal Recessive, Type Ib	Micrognathia, High palate, Emphysema, Prominence of the premaxilla, Arachnodactyly, Depressed nas...	OMIM:614437
Enlarged Parietal Foramina	Craniosynostosis, Cleft lip, Cleft palate, Short clavicles, Broad thumb	ORPHA:60015
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Progres...	OMIM:615108
Mend Syndrome	Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Microgna...	OMIM:300960
3Mc Syndrome 1	Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, C...	OMIM:257920
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Micrognathia, Cleft upp...	OMIM:612561
Cranioectodermal Dysplasia 4	Epicanthus, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Hip dysplasia, Cutaneo...	OMIM:614378
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Protruding ear, High palate, Otitis media, Clinoda...	OMIM:223370
Dermotrichic Syndrome	Blepharophimosis, Depressed nasal bridge, Abnormal vertebral morphology, Short nose	ORPHA:99688
Tetraploidy	Micrognathia, Radial club hand, Cleft palate, Short philtrum, Convex nasal ridge	ORPHA:3305
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Lacrimation abnormality, Prominent nasal bridge, Underd...	ORPHA:3440
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Premature graying of hair, High palate, Atrial septal def...	ORPHA:769
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Progres...	OMIM:615109
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Synophrys, Joint contracture of the 5th finger, Clin...	ORPHA:363611
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Fumarase Deficiency	Relative macrocephaly, Frontal bossing, Necrotizing enterocolitis, Reduced subcutaneous adipose t...	OMIM:606812
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Limitation of joint mobility, Lacrimation abnormality	ORPHA:1484
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology, Anal atresia	ORPHA:195
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Single transverse palmar cre...	OMIM:300912
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, C...	ORPHA:261552
Aase-Smith Syndrome I	Death in infancy, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Septopreoptic Holoprosencephaly	Microcephaly, Precocious puberty, Perisylvian polymicrogyria, Abnormal rib morphology, Coarctatio...	ORPHA:280195
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Multiple palmar creases, Blepharophimosis, Short nose, ...	OMIM:611936
Branchiootic Syndrome	Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Autosomal Recessive Malignant Osteopetrosis	Apnea, Bone pain, Reduced bone mineral density, Narrow chest, Otitis media, Pulmonary artery sten...	ORPHA:667
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Hypertelorism, Cryptorchidism, Wide nasal bridge, Genu valgum, Protruding ...	ORPHA:1778
Joubert Syndrome 7	Encephalocele, Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydacty...	OMIM:611560
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Broad nasal t...	OMIM:620157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac...	OMIM:607155
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Arachnodactyly, Prominent nose, Micrognathia, Precocious puberty, H...	OMIM:618971
Tibial Hemimelia	Absent tibia	OMIM:275220
Paroxysmal Hemicrania	Stiff neck, Palpebral edema, Diabetes mellitus, Focal sensory seizure with olfactory features, Rh...	ORPHA:157835
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Small scrotum, Micrognathia, Short neck, Widely-spaced maxillary cent...	OMIM:309580
Fanconi Anemia, Complementation Group F	Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Duoden...	OMIM:603467
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Microcephaly, Limitation of join...	ORPHA:99742
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ...	OMIM:118100
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Epicanthus, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed ...	OMIM:613457
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Pes planus, Cleft upper lip, Pectus excavatum, Anosmia, Cleft palate, Finger joint hypermobility,...	OMIM:244200
Acrocardiofacial Syndrome	Joint dislocation, Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Death in infancy...	ORPHA:2008
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Microcephaly, Spinal rigidity, Dyspnea, Cardiomyopath...	ORPHA:86812
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Deep phil...	ORPHA:251038
Distal Deletion 3P	Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Clinodactyly o...	ORPHA:1620
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hamartoma of tongue, Aplastic clavicle, Accessory oral frenulum, Postaxia...	OMIM:616546
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Exaggerated cupid's bow, Overlapping toe, Single transverse palmar crease...	ORPHA:254528
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Macrotia, Decrease...	ORPHA:93950
Lymphedema-Hypoparathyroidism Syndrome	Wide nasal bridge, Increased carrying angle, Brachydactyly	OMIM:247410
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Esophag...	ORPHA:93271
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Noonan Syndrome 4	Short neck, Abnormal sternum morphology, Thickened helices, Atrial septal defect, Depressed nasal...	OMIM:610733
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Short lingual frenulum, Craniosynostosis, Broad nasal tip, Aplasia/Hypopla...	ORPHA:1521
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental morphology, Abnormal dental e...	ORPHA:2092
Aniridia 3	Aniridia, Cataract	OMIM:617142
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia...	ORPHA:306542
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, ...	OMIM:603387
Micro Syndrome	Hypoplasia of penis, Anteverted nares, Micrognathia, Joint stiffness, Cryptorchidism, Hypoplastic...	ORPHA:2510
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, Cleft palate, ...	OMIM:614080
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Small for gestational age, Coxa valga, Lagoph...	ORPHA:404454
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Microcephaly, Cryptorchidism, Postaxial hand pol...	ORPHA:2519
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse eyebrow, Delayed skeletal maturation, Lacrimation abnormality, Hypothyroidism	ORPHA:1882
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Arachnodactyly, Pectus excavatum, Increased vertebral height, High palate, Scoliosis, Camptodacty...	OMIM:610474
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patent ductus arteriosus,...	OMIM:616462
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Shor...	OMIM:614225
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Anteverted nares, Blepharophimos...	ORPHA:3339
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Accelerated skeletal maturation, Precocious puberty, Long penis, Oligozoospermi...	ORPHA:3000
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O...	ORPHA:3016
Hereditary Bullous Dystrophy, Macular Type	Turricephaly, External genital hypoplasia, Pneumonia, Microcephaly, Tapered finger, Cryptorchidis...	ORPHA:1867
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E...	ORPHA:522077
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,...	ORPHA:974
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Apla...	ORPHA:85199
Bardet-Biedl Syndrome 22	Microcephaly, Postaxial foot polydactyly, Polydactyly, Hypogonadism, Macrocephaly	OMIM:617119
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger	ORPHA:2760
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Hypopla...	ORPHA:228396
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Short nose, Short palpebral fissure, Bilateral choanal...	ORPHA:1200
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca...	OMIM:613795
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Anterior concavity of ...	OMIM:216340
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Cleft pala...	ORPHA:90354
Lambotte Syndrome	Ventricular septal defect, Microcephaly, Hypertelorism, Macrotia, Atresia of the external auditor...	OMIM:245552
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ...	ORPHA:2521
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis, Progressive microcephaly	ORPHA:71277
Pentalogy Of Cantrell	Talipes, Non-midline cleft lip, Split hand, Abnormal tibia morphology, Cleft palate, Orofacial cl...	ORPHA:1335
Orofaciodigital Syndrome Iii	Hypertelorism, Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbo...	OMIM:258850
Biemond Syndrome Type 2	Preaxial polydactyly, Short stature, Delayed puberty	ORPHA:141333
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Secundum atrial septal defect, Pie...	OMIM:620183
8P11.2 Deletion Syndrome	Hypoplasia of penis, Sacral dimple, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microg...	ORPHA:251066
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Clinodactyly of the 5th finger, Short ...	ORPHA:2031
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Ventricular septal defect, Abnormal cortical gyration, Postaxial polydactyly, M...	OMIM:614576
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Tented upper lip vermilion, Aganglionic megacolon, Anteverted nares, Abnormalit...	ORPHA:847
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynostosis, Wide a...	OMIM:601853
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Velocardiofacial Syndrome	Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae, Microcephaly, Cryp...	OMIM:192430
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Protruding ear, Deeply set eye, Clinodactyly of the 5th finger, Micr...	ORPHA:464306
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Epicanthus, Wide nose, Hypospadias, Anteverted nares, Depressed nasal bridge, Shor...	OMIM:257300
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Depressed nasal bridge, Delayed epiphyseal ossification, Macroglossia, Abno...	ORPHA:226313
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl...	OMIM:264270
Orthostatic Hypotension 1	Nasal congestion, High palate, Joint hypermobility, Brachydactyly	OMIM:223360
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru...	ORPHA:2578
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Kagami-Ogata Syndrome	Pursed lips, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Coxa valga, ...	ORPHA:254519
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Cerebral hemor...	OMIM:620278
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Dental crowding, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal ...	ORPHA:230851
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Tongue fasciculations, Respiratory insufficiency	ORPHA:238329
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Hyperteloris...	OMIM:137550
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Flat occiput, Epispadias, Depressed nasal ridge, Brachycephaly, Pachygyria, Enceph...	ORPHA:2211
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Progres...	OMIM:158350
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Hypoplas...	OMIM:200995
Muenke Syndrome	Tarsal synostosis, Hypertelorism, High, narrow palate, Sensorineural hearing impairment, Brachyce...	ORPHA:53271
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Flat occiput, Micrognathia, Short neck, High palate, Narrow chest, Protein-losing enteropathy, Ab...	ORPHA:1655
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Micrognathia, Abnormality of the gingiva, Osteopathia striata, Widely spaced teeth, Pachygyria, H...	ORPHA:513456
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Micropenis, Clubbing of fingers, Gingival bleeding, Left vent...	ORPHA:335
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Lon...	OMIM:301091
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Anteverted nares, Supernumerary nipple, Tapered finger, Highly arched eyebrow, Cryptorchidism, Sh...	OMIM:616728
Leopard Syndrome 1	Mandibular prognathia, Limited elbow movement, Short neck, Depressed nasal ridge, Pectus carinatu...	OMIM:151100
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age	OMIM:245570
Kindler Epidermolysis Bullosa	Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Sho...	ORPHA:2908
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Brachycephaly, Hypotelorism, Hyp...	OMIM:619512
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Micrognathia, Prominent nose, Long nose, Atrial septal defect, Clinodactyly of the 5th finger, At...	ORPHA:3047
Cohen-Gibson Syndrome	Osteopenia, Accelerated skeletal maturation, Flexion contracture, Long ear, Hypoplastic iliac win...	OMIM:617561
Deafness, Conductive, With Malformed External Ear	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co...	OMIM:221300
Pseudotrisomy 13 Syndrome	Hemivertebrae, Hypotelorism, Atrial septal defect, Micropenis, Encephalocele, Cleft upper lip, Cr...	OMIM:264480
Histidinuria Due To A Renal Tubular Defect	Sensorineural hearing impairment, Macrotia, Short middle phalanx of finger, Rounded middle phalan...	OMIM:235830
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of fing...	ORPHA:284160
Johnson Neuroectodermal Syndrome	Choanal atresia, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, C...	ORPHA:2316
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Finger syndactyly, Open bite, Abnormal rib m...	ORPHA:2907
Hyperostosis Cranialis Interna	Anosmia, Epiphora, Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyposmia, Hyp...	OMIM:144755
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Absent eyelashes, Short thumb, Partial duplication of thumb ...	OMIM:620193
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Cleft palate, Orofacial cleft, H...	ORPHA:220493
Opitz Gbbb Syndrome	Bifid scrotum, Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Pa...	ORPHA:2745
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1675
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted...	OMIM:614609
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion contracture, Narrow ...	OMIM:248370
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn...	ORPHA:91387
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Brachycephaly, Protruding ear, High palate, Atrial s...	OMIM:601776
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cerebellofaciodental Syndrome	Single transverse palmar crease, Short neck, Tapered finger, Cryptorchidism, Sparse eyebrow, Dela...	OMIM:616202
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Recurrent respiratory infections, Depressed nasal bridge, Single transv...	ORPHA:466950
Gapo Syndrome	Epicanthus, Sparse eyelashes, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyeb...	OMIM:230740
Fanconi Anemia, Complementation Group B	Death in infancy, Absent thumb, Short neck, Esophageal atresia, Tracheoesophageal fistula, Bilate...	OMIM:300514
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Duplication of thumb phalanx, Abnormal thumb morphology, Carious teeth, ...	OMIM:620192
Mend Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Broad hallux, Asymmetry of the mouth...	ORPHA:401973
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3232
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s...	ORPHA:2010
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Intestinal malrotation, Micrognathia, Short neck, Hypertelorism, Patent ductus arte...	ORPHA:2001
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub...	ORPHA:414
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Abnormal thumb morphology, Limitation o...	ORPHA:2719
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,...	ORPHA:2369
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun...	ORPHA:572333
White-Kernohan Syndrome	Synophrys, Broad medial eyebrow, Epicanthus inversus, Hypothyroidism, Joint laxity, Anteverted na...	OMIM:619426
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Situs inversus totalis, Upper airway obstruction, High palate...	OMIM:612776
Carey-Fineman-Ziter Syndrome 1	Anteverted nares, Depressed nasal bridge, Tapered finger, Micrognathia, Spinal rigidity, Broad na...	OMIM:254940
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture, Sensorineural hearing impairment, Shoulder gir...	ORPHA:2596
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Kyphoscoliosis	OMIM:619099
Donnai-Barrow Syndrome	Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Wide anterior fontanel, Bic...	ORPHA:2143
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio...	ORPHA:60025
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Secondary microcephaly, Apnea	OMIM:610992
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Epiphora	OMIM:148200
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, D...	OMIM:614744
Pyruvate Dehydrogenase E1-Alpha Deficiency	Single transverse palmar crease, Talipes, Flexion contracture, Limb undergrowth, Pes cavus	ORPHA:79243
Anonychia-Ectrodactyly	Ectodermal dysplasia, Split hand, Aplasia of metacarpal bones	OMIM:106900
Congenital Gerbode Defect	Ventricular septal defect, Ankle swelling, Crackles, Dyspnea, Right atrial enlargement, Pulmonary...	ORPHA:99095
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t...	OMIM:617865
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Inguinal hernia, Anteverted nares, Micrognathia, Broad nasal tip, Wide anterior font...	OMIM:618548
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common at...	OMIM:616749
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hypertelorism, Patent ductus arteriosus, Hypop...	OMIM:614846
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Generalized joint laxity, Prominent veins on trunk, High palate, Emph...	ORPHA:357074
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Pectus excavatum, Long fingers, M...	OMIM:156610
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Kyphosi...	OMIM:309000
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High...	OMIM:616730
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi...	ORPHA:99772
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Knee flexion contracture, Protruding ear, Deeply set eye, High...	ORPHA:3132
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus ca...	ORPHA:558
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	OMIM:610978
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Conductive hearing impairm...	ORPHA:580
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Uplifted earlobe...	OMIM:619841
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Lethal Congenital Contracture Syndrome 9	Micrognathia, Flexion contracture, Congenital contracture, Wrist flexion contracture, Elbow exten...	OMIM:616503
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Alg8-Cdg	Macroglossia, Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Meacham Syndrome	Hypoplasia of penis, Abnormal lung lobation, Conotruncal defect, Abnormal fallopian tube morpholo...	ORPHA:3097
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Respiratory distress, Resp...	OMIM:211530
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Clinodactyly of the 5th finger, Hypospadias, Antevert...	OMIM:619522
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Protruding ear, Wide nasal bridge, Microcephaly	OMIM:618302
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Pericardial effusion, Resp...	ORPHA:2905
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon...	OMIM:607944
Fetal Valproate Spectrum Disorder	Omphalocele, Epicanthus, Depressed nasal ridge, Short nose	ORPHA:1906
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Kabuki Syndrome	Abnormal dental morphology, Lip pit, Abnormality of the dentition, Vertebral clefting, Small hand...	ORPHA:2322
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Cyanosis, Short lingual frenulum, Hypogonadotropic hypogonadism, Partial anosmia, Tot...	ORPHA:2326
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ...	ORPHA:157215
Farber Disease	Respiratory distress, Abnormality of the knee, CNS foam cells, Abnormality of the hand, Nodular p...	ORPHA:333
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Noonan Syndrome 2	Micrognathia, Short neck, Pectus carinatum, Abnormal sternum morphology, High palate, Atrial sept...	OMIM:605275
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Precocious puberty, Cry...	ORPHA:96191
3Mc Syndrome 3	Bifid scrotum, Sacral dimple, Abnormal pinna morphology, Cleft upper lip, Hypertelorism, Cryptorc...	OMIM:248340
Hypophosphatasia, Adult	Arthropathy, Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility ...	OMIM:146300
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Toe syndactyly, Bulbous nose, Hypoplasia of the radius, Wide nasal brid...	ORPHA:140952
1Q41Q42 Microdeletion Syndrome	Frontal bossing, Depressed nasal bridge, Hypergonadotropic hypogonadism, Underdeveloped nasal ala...	ORPHA:250999
Laurence-Moon Syndrome	Short stature, Polydactyly, Abnormality of the hand	OMIM:245800
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Triangular mouth,...	OMIM:618460
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Camptodactyly of finger, Hiatus hernia, Abnormality of t...	ORPHA:2065
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intraalve...	OMIM:610910
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava...	OMIM:618975
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate	ORPHA:2165
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypertelorism, Hypoplasia of the maxilla, Cryp...	OMIM:601499
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Nephronophthisis 15	Polydactyly	OMIM:614845
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Proximal placement of thumb, Micrognat...	OMIM:270400
Dend Syndrome	Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho...	ORPHA:79134
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, High palate, ...	OMIM:614866
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l...	ORPHA:50251
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic h...	ORPHA:465508
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,...	OMIM:271225
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Intrauterine growth retardation, Microcephaly	ORPHA:26792
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Tooth malposition, Limb undergrowth, Clinodac...	OMIM:616541
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Narrow chest, Mic...	OMIM:618268
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation...	ORPHA:369837
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Short philtrum, ...	OMIM:309500
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, H...	ORPHA:990
Spondyloocular Syndrome	Long toe, Osteopenia, Arachnodactyly, Unilateral cryptorchidism, Femur fracture, Overlapping toe,...	OMIM:605822
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse eyelashes, Carious teeth, Osteoporosis, Nasolacrimal duct obstruction, Palmoplantar hyperk...	OMIM:224230
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Choanal atresia, Posteriorly rotated ears, Micro...	OMIM:613309
Bohring-Opitz Syndrome	Joint dislocation, Apnea, Micrognathia, Cardiomegaly, Congenital contracture, Prominent palatine ...	ORPHA:97297
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Microce...	ORPHA:1236
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Hemivertebrae, Brachycephaly, Contracture of the proximal interphalangeal joint of th...	OMIM:618223
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Hypotelorism, Deeply set eye, High palate, Clinodactyly of the 5th finger, Patent f...	OMIM:616975
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Micrognathia, Short n...	ORPHA:1587
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Digeorge Syndrome	Micrognathia, High, narrow palate, High palate, Short philtrum, Bifid uvula, Hypertelorism, Atele...	OMIM:188400
Graft Versus Host Disease	Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow movement, Trismus, Limited shoulde...	ORPHA:39812
Congenital Tracheomalacia	Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing...	ORPHA:95430
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorine...	OMIM:606164
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Dyskeratosis Congenita	Hypoplasia of the maxilla, Premature graying of hair, Periodontitis, Intrauterine growth retardat...	ORPHA:1775
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa...	ORPHA:2473
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose, Wide nasal bridge, Short ...	OMIM:620292
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Microcepha...	OMIM:619103
Dyskeratosis Congenita, Autosomal Dominant 3	Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Osteoporosis, Epiphora	OMIM:613990
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt...	OMIM:619339
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Small for gestational age, Abnormality of the...	ORPHA:330015
Okamoto Syndrome	Tented upper lip vermilion, Primum atrial septal defect, Downturned corners of mouth, Exaggerated...	ORPHA:2729
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Cinca Syndrome	Reduced bone mineral density, Brachydactyly	ORPHA:1451
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Bone pain, Tooth abscess	ORPHA:89937
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Osteoarthritis, Generalized joint laxity,...	ORPHA:287
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Ventricular septal defect, Broad nasal tip, Hyper...	OMIM:222448
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Frontal bossing, Death in infancy, Thickened ribs, Abnormal heart va...	OMIM:230500
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Micrognathia, Sparse eyebrow, Underdeveloped nasal alae, Ca...	OMIM:604173
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft...	OMIM:614557
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ...	ORPHA:487796
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protr...	OMIM:225400
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Vertigo, Scoliosis, Hand clenching	ORPHA:37612
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Overlapping toe, Ventricular septal defect, Microcephaly, Partial ano...	OMIM:617478
Hydroa Vacciniforme	Scarring, Epiphora	ORPHA:330058
Holoprosencephaly 13, X-Linked	Micrognathia, Aplasia of the nose, Thoracic hemivertebrae, Patent foramen ovale, Median cleft pal...	OMIM:301043
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Sensorineural hearing impairment, Left ventricular hypert...	OMIM:616974
Hennekam Syndrome	Abnormal oral mucosa morphology, Short philtrum, Narrow chest, Conductive hearing impairment, Pac...	ORPHA:2136
Branchiootorenal Syndrome 1	Congenital hip dislocation, Lacrimation abnormality, Lacrimal duct stenosis, Lacrimal duct aplasi...	OMIM:113650
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Respiratory ...	ORPHA:1461
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, ...	ORPHA:99050
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Congenital diaphragmatic hernia,...	OMIM:618774
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Cleft palate, Orofacial cleft, H...	ORPHA:220497
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Micrognathia, Abnormal lung lobation, Orofacial cleft, Hypotelorism, Absent ...	ORPHA:2166
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Malabsorption, Steatorrhea, Short palm, Brachydactyly	ORPHA:3217
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Posteriorly rotated ears, Broad nasal tip, Prot...	OMIM:618106
Heart Defects, Congenital, And Other Congenital Anomalies	Atrial septal defect, Hypoplastic tricuspid valve, Patent foramen ovale, Patent ductus arteriosus...	OMIM:600001
X-Linked Intellectual Disability, Nascimento Type	Deep philtrum, Downturned corners of mouth, Micropenis, Patent foramen ovale, Depressed nasal bri...	ORPHA:163956
Radial Aplasia, X-Linked	Absent radius, Anal atresia	OMIM:312190
Sunct Syndrome	Palpebral edema, Nasal congestion, Increased tear production, Conjunctival hyperemia, Epiphora, P...	ORPHA:57145
Congenital Sialidosis Type 2	Protruding tongue, Respiratory tract infection, Cherry red spot of the macula, Gingival overgrowt...	ORPHA:93400
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia,...	OMIM:606763
Proteus Syndrome	Pulmonary embolism, Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the vert...	ORPHA:744
Schisis Association	Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia	ORPHA:63862
Stromme Syndrome	Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Micrognathia, Microcephaly, Hype...	OMIM:243605
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept...	ORPHA:2255
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragma...	OMIM:601803
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Retrognathia, Supernumerary ribs, Short nose, Meckel diverticulum	ORPHA:163961
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien...	OMIM:245650
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Synophrys, Recurrent upper respiratory tract in...	OMIM:252900
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Overlapping toe, Depressed nasal bridge, Protruding ...	ORPHA:99843
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Walker-Warburg Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Abnormal cortical gyration, Microcephaly, Cryptorc...	ORPHA:899
6Q Terminal Deletion Syndrome	Micrognathia, Short neck, High, narrow palate, Joint laxity, Aplasia/Hypoplasia of the ribs, Low-...	ORPHA:75857
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair...	OMIM:300455
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Short neck, Deep philtrum, Finger joint hypermobility, Joint laxity, Antev...	OMIM:613563
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Flexion contracture, Hip dysplasia, Shallow orbits, Arthrogryposis multiplex con...	ORPHA:440713
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Uplifted earlobe, Micrognathia, Short neck, Short palm, Clinodactyly of the 5th fi...	OMIM:616734
Holoprosencephaly 9	Hypoplasia of the maxilla, Single naris, Hypotelorism, Short philtrum, Micropenis, Depressed nasa...	OMIM:610829
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Narrow nasal tip, Hypospadias, Anteverted nares, Supernumerary nipple, Tapered finger, Sparse eye...	ORPHA:477993
Macrocephaly/Autism Syndrome	Joint laxity, Epicanthus, Depressed nasal bridge, Penile freckling, Large for gestational age, Ob...	OMIM:605309
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Pectus carinatum, Severe sensorineural hearing impairment, Atrioventricular canal ...	ORPHA:500
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Dental crowding, Small scrotum, Abnormal lung lobation, Orof...	ORPHA:2052
Frontofacionasal Dysplasia	Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Short no...	ORPHA:1791
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Ante...	ORPHA:438216
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Parietal bossing, Patent ...	OMIM:619343
Scimitar Syndrome	Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal...	ORPHA:185
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Microcephaly, Brachioradialis areflexia, Trismus,...	OMIM:616271
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract	OMIM:612674
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Thin upper lip vermilion, Wide nose, Overriding aorta, Sandal gap, Bicuspid aortic ...	ORPHA:477817
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia	OMIM:615181
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Bulbous nose, Cleft palate, Patel...	OMIM:603736
Epithelial Recurrent Erosion Dystrophy	Epiphora	OMIM:122400
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturatio...	OMIM:614857
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat...	ORPHA:747
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge	OMIM:200130
Hereditary Methemoglobinemia	Exertional dyspnea, Lip discoloration, Cyanosis, Microcephaly	ORPHA:621
Cdags Syndrome	Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, S...	OMIM:603116
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt...	ORPHA:77260
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Prominent eyelashes, Wide nasal bridge, Upslanted palpebral fissure, Scol...	OMIM:619179
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Micrognathia, Epispadias, Abnormality of the ear, Abnormal fallopian tube m...	ORPHA:2556
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta...	ORPHA:973
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary...	ORPHA:199241
Ramos-Arroyo Syndrome	Respiratory distress, Frontal bossing, Anteverted nares, Depressed nasal bridge, Aganglionic mega...	ORPHA:1051
Bardet-Biedl Syndrome 8	Hypospadias, Postaxial polydactyly, Situs inversus totalis, Brachycephaly, Hypogonadism	OMIM:615985
Kilquist Syndrome	Mandibular prognathia, Choanal atresia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Pect...	OMIM:619080
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Synophrys, Recurrent upper respiratory tract inf...	OMIM:252930
Joubert Syndrome 23	Sensorineural hearing impairment, Tachypnea, Polydactyly, Apnea	OMIM:616490
Holoprosencephaly 7	Flat occiput, Hypotelorism, Hypoplastic nasal septum, Shallow orbits, Parietal bossing, Median cl...	OMIM:610828
Marfan Syndrome	Dental crowding, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion...	OMIM:154700
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Septooptic Dysplasia	Short stature, Polydactyly, Short finger	OMIM:182230
Corneal Dystrophy, Meesmann, 1	Epiphora	OMIM:122100
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Hypospadias, Hypertelorism, Hypoplasia of the maxilla, Wid...	ORPHA:782
Ring Chromosome 13 Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, High palate, Short phil...	ORPHA:96176
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Ear pain, Palmoplantar keratoderma, Palmopl...	ORPHA:2309
Corneal Dystrophy, Meesmann, 2	Epiphora	OMIM:618767
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Short neck, Tr...	OMIM:614083
Familial Visceral Myopathy	Arachnodactyly, Aganglionic megacolon, Camptodactyly of finger, Micrognathia, Joint stiffness, An...	ORPHA:2604
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Antever...	OMIM:615273
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch...	OMIM:219000
Dravet Syndrome	Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Epistaxis, Cough, Dyspnea, Clubbing, Pulmonary arteriovenous...	ORPHA:2038
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Downturned corners of mouth, Deeply set...	OMIM:619539
Microphthalmia, Syndromic 6	Small scrotum, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Brachycephaly, Pr...	OMIM:607932
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertrophy, In...	OMIM:616733
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Situs inversus totalis, Conductive hearing impairment, Velophar...	ORPHA:199302
Cat Eye Syndrome	Micrognathia, Atrial septal defect, Hypertelorism, Patent ductus arteriosus, Total anomalous pulm...	OMIM:115470
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infection...	OMIM:614069
Weill-Marchesani Syndrome 4	Joint stiffness, Brachydactyly	OMIM:613195
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachyp...	ORPHA:70587
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Joint hypermobility, Cryptorchidism, Glandular hypospadias, Retrognathia, Thin rib...	ORPHA:456328
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Long eyelashes, Sho...	OMIM:617802
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Ao...	OMIM:620025
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial ...	ORPHA:439
Congenital Heart Block	Cyanosis, Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, I...	ORPHA:60041
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Short neck, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Atria...	ORPHA:505248
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Hypertelorism, Pectus excavatum, ...	OMIM:104350
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Hypertelorism, Tracheoesophageal fistula, Orofacial clef...	ORPHA:268249
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Single transverse palmar crease, Br...	ORPHA:466943
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ...	ORPHA:60033
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:604292
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Diabetes mellitus, Delayed eruption of primary teeth, Cachex...	ORPHA:191
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Microcephaly, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect,...	OMIM:619239
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,...	OMIM:105830
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Cleft palate	OMIM:611134
Distal Deletion 12Q	Single transverse palmar crease, Short neck, Micrognathia, Aplasia/Hypoplasia of the middle phala...	ORPHA:96149
C1Q Deficiency 2	Atelectasis, Oral ulcer, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recu...	OMIM:620321
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Microcephaly, Protruding tongue, Hand clenching, Hearing impairment	OMIM:619580
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Joint laxity, Frontal bossing, Arachnodactyly, Prominent nasal bridge, Pos...	OMIM:617011
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Progressive microcephaly, Long philtrum	OMIM:614741
Cowden Syndrome	Pectus excavatum, Kyphosis, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Pa...	ORPHA:201
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosi...	ORPHA:2414
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Vernal Keratoconjunctivitis	Abnormal conjunctiva morphology, Lacrimation abnormality, Scarring	ORPHA:70476
Severe Congenital Nemaline Myopathy	Hypospadias, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin r...	ORPHA:171430
Bronchogenic Cyst	Back pain, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morpholog...	ORPHA:2357
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia	ORPHA:93945
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Yuan-Harel-Lupski Syndrome	Joint laxity, Thin upper lip vermilion, Wide nose, Sandal gap, Bicuspid aortic valve, Ventricular...	OMIM:616652
Noonan Syndrome 3	Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Pectus excavat...	OMIM:609942
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Sirenomelia	Absence of the sacrum, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, ...	ORPHA:3169
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, J...	ORPHA:85194
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Microphthalmia, Syndromic 5	Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma	OMIM:610125
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Moderate Hemophilia A	Arthropathy, Hip contracture, Epidural hemorrhage, Cartilage destruction, Intraventricular hemorr...	ORPHA:169805
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Aortic Arch Interruption	Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus a...	ORPHA:2299
Shwachman-Diamond Syndrome 2	Death in infancy, Anterior rib cupping, Metaphyseal widening, Death in childhood, High palate, St...	OMIM:617941
Pterygium Colli, Isolated	Epicanthus, Short nose	OMIM:177990
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, At...	ORPHA:258
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract	ORPHA:3437
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Calvarial skull defect, Atrial septal defect, Pachygyria, Encephalocele, C...	OMIM:100300
Adams-Oliver Syndrome 5	Syndactyly, Esophageal varix, Brachydactyly	OMIM:616028
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, Pectus...	OMIM:218040
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Cleft palate, Abnormal rib cage morphology, Hand polydactyly, Talipe...	OMIM:217100
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Camptodactyly Syndrome, Guadalajara, Type Iii	Small hypothenar eminence, Abnormal pinna morphology, Short neck, Hypertelorism, Delayed skeletal...	OMIM:611929
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Craniosynostosis, Maxillozygomatic hypoplasia, Upslanted palpebral fissure, Cho...	ORPHA:1790
Spondylospinal Thoracic Dysostosis	Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, A...	OMIM:601809
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Depressed nasal bridge, Anteverted nares, Central hypoventilation, Hyp...	ORPHA:293987
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P...	ORPHA:1302
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Loeys-Dietz Syndrome	Joint dislocation, Micrognathia, Orofacial cleft, Pectus carinatum, High palate, Uterine rupture,...	ORPHA:60030
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narr...	OMIM:122880
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo...	OMIM:611376
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra...	OMIM:612852
Hereditary Cryohydrocytosis With Reduced Stomatin	Short thorax, Short neck, Brachydactyly	ORPHA:168577
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal b...	ORPHA:920
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal...	OMIM:241310
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Talipes equinovarus, Microcephaly	OMIM:150260
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac...	OMIM:602531
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o...	OMIM:619321
Orofaciodigital Syndrome Type 14	Short neck, Bilateral cryptorchidism, Epispadias, Aplasia of the epiglottis, Lobulated tongue, Mi...	ORPHA:434179
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Depressed nasal bridge, Myofiber disarray, High palate, D...	OMIM:604377
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Small scrotum, Short neck, Brachycephaly, Protruding ear, Posterior plagio...	OMIM:620330
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Abnormal palmar dermatoglyphics, Bilateral ptosis, Failure to thrive, Decreased...	OMIM:620040
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Metatarsus adductus, Spina bifida occulta, Tibial bowing, Macroglossia...	ORPHA:500095
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Epicanthus, Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Scoliosis, ...	OMIM:300749
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m...	ORPHA:1416
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala...	ORPHA:254864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Senior-Loken Syndrome 9	Osteopenia, Hypoplasia of the femoral head, Polydactyly, Hypogonadism, Chronic bronchitis	OMIM:616629
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,...	OMIM:147920
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Wide nose, Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Depressed nas...	OMIM:201750
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele, Epiphora	OMIM:149700
10Q22.3Q23.3 Microdeletion Syndrome	Microretrognathia, Curved middle phalanx of the 4th toe, Intestinal polyposis, Frontal bossing, A...	ORPHA:276413
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Microcephaly, Sensorineural hearing impairment, Submucous cleft hard palat...	OMIM:617660
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Nasal polyposis, Sinusitis, Abnormal pericardium morphology, Transient is...	ORPHA:183
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Inguinal hernia, Femoral hernia, Anteverted nares, Highly arched eyebrow, Fa...	ORPHA:96147
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Synophrys, Bulbous nose, Short nose, Downslanted palpebr...	ORPHA:284169
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Flat occiput, Cleft upper li...	OMIM:614294
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:601370
Pgm3-Cdg	Lactose intolerance, Mild neurosensory hearing impairment, Osteomyelitis, Recurrent respiratory i...	ORPHA:443811
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Reduced circulating growth hormone concentration, De...	OMIM:613038
Birk-Barel Syndrome	Microretrognathia, Reduced subcutaneous adipose tissue, Sacral dimple, Tented upper lip vermilion...	OMIM:612292
Hemochromatosis, Type 1	Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Azoospermia, Impoten...	OMIM:235200
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Right atrial isomerism, Bilateral trilobed lung, Ventricular septal defect...	OMIM:270100
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus hernia, Abnormali...	ORPHA:2538
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Telecanthus, Prominent nasal bridge, Underdeveloped nasal alae, Wide...	ORPHA:163746
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Abnormal pinna morphology, Depressed nasal bridge, Wide anterior fontanel, ...	OMIM:231680
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Faundes-Banka Syndrome	Premature thelarche, Micrognathia, Deeply set eye, Lumbar hemivertebrae, Long ear, Conductive hea...	OMIM:619376
Tularemia	Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Otitis m...	ORPHA:3392
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Coarctation of a...	ORPHA:2396
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Thoracoabdominal Syndrome	Hypospadias, Cleft upper lip, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition ...	OMIM:313850
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Flexion contracture, Anterior wedging of T12, Complete ...	OMIM:227645
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, Hypotelorism, Protruding ear, High palate, At...	ORPHA:363700
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Anteverted nares, Decreased fertility, Hypoplasia of teeth, Keratoc...	OMIM:234050
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Chr...	OMIM:616726
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Hsd10 Disease, Infantile Type	Cyanosis, Microcephaly, Cardiomegaly, Hypertrophic cardiomyopathy, Hearing impairment	ORPHA:391428
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal...	ORPHA:99106
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Triphalang...	ORPHA:857
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic h...	OMIM:307500
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Short philtrum, W...	ORPHA:466791
Sotos Syndrome	Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Increased head circ...	ORPHA:821
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness	OMIM:613561
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract...	ORPHA:365
Alkaptonuria	Joint dislocation, Mitral valve calcification, Abnormal heart valve morphology, Coronary artery c...	ORPHA:56
Limbal Stem Cell Deficiency	Lacrimation abnormality, Corneal scarring, Blepharospasm, Conjunctival hyperemia, Epiphora	ORPHA:171673
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Double outlet right ventricle, Bronchiectasis, Decreased nasal nitric oxide, Cough,...	OMIM:618254
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Cryptorchidism, Anosmia, Arthrogryposis multiplex congenita, Alac...	OMIM:609136
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten...	ORPHA:280200
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Depressed nasal bri...	ORPHA:1830
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Sensorineural hearing impairment, Cyanosis, Progressive microcephaly, Genu valgum	ORPHA:488627
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Diabetes mellitus, Small for...	ORPHA:125
Short Fifth Metacarpals-Insulin Resistance Syndrome	Nasal congestion, Hyperinsulinemia, Short 5th metacarpal	ORPHA:66518
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Cloacal Exstrophy	Intestinal malrotation, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula ...	ORPHA:93929
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Hypospadias, Depressed nasal bridge, Small for gestational age, Cryptorchidism, Gout,...	OMIM:300661
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Neurocardiofaciodigital Syndrome	Syndactyly, Microcephaly, Patent ductus arteriosus, Tetralogy of Fallot, Double inlet left ventri...	OMIM:619869
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Talipes equinovarus, Femoral bowing	OMIM:615415
Culler-Jones Syndrome	Cleft palate, Short stature, Postaxial polydactyly, Cleft upper lip	OMIM:615849
Developmental And Epileptic Encephalopathy 75	Upslanted palpebral fissure, Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,...	ORPHA:1652
Cutis Laxa-Marfanoid Syndrome	Abnormal heart valve morphology, Arachnodactyly, Flexion contracture, Limitation of joint mobilit...	ORPHA:171719
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Anteverted nares, Depressed nasal bridge, Micrognathia, Malar flattening, ...	OMIM:242860
Adult-Onset Still Disease	Pericarditis, Cartilage destruction, Myocarditis, Recurrent pharyngitis, Erythema, Arthritis, Joi...	ORPHA:829
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Waardenburg Syndrome, Type 1	Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Hypertelorism, Congenital sensori...	OMIM:193500
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Thickened helices, Atrioventricular canal defect, Bifid uvula, Exaggerated cupid's bow, Spina bif...	OMIM:619480
Wildervanck Syndrome	Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment	OMIM:314600
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Relapsing Polychondritis	Large vessel vasculitis, Anteriorly placed anus, Biparietal narrowing, Cough, Chondritis, Atelect...	ORPHA:728
Dyskeratosis Congenita, X-Linked	Hypospadias, Sparse eyelashes, Phimosis, Carious teeth, Cryptorchidism, Osteoporosis, Conjunctivi...	OMIM:305000
Isolated Atp Synthase Deficiency	Respiratory distress, Microcephaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Hyp...	ORPHA:254913
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Congenital sensorineural hearing impairment, Short neck	ORPHA:3456
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Depressed nasal bridge, Postaxial polydactyly, Cryptorchidism, Sensorineural hearing impairment, ...	OMIM:615824
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Limited mobility of proximal interphalange...	OMIM:222300
Renal Agenesis, Bilateral	Non-midline cleft lip, Abnormal sacrum morphology, Depressed nasal ridge, Tracheoesophageal fistu...	ORPHA:1848
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Shawl scrotum	ORPHA:85277
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive, Ptosis	OMIM:560000
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi...	ORPHA:254361
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Os...	OMIM:612301
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm...	ORPHA:2273
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Epistaxis, Rickets, Cholelithiasis, Failure to thrive	OMIM:211600
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Small scrotum, Microcephaly, Cryptorchidism, Death in childhood, Intrauteri...	OMIM:615597
Folinic Acid-Responsive Seizures	Respiratory distress, Sensorineural hearing impairment, Apnea	ORPHA:79097
Ciliary Dyskinesia, Primary, 1	Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses, Situs inversus totalis, Abs...	OMIM:244400
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Apnea, Venous insufficiency, Osteoarthritis, Abnormality of the gingiva, Gingi...	ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,...	OMIM:130050
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Single transverse palmar crease, High, narrow palate, Abnormal curvature of the verteb...	OMIM:619475
Hardikar Syndrome	Atrial septal defect, Patent foramen ovale, Cleft soft palate, Thoracolumbar scoliosis, Patent du...	OMIM:301068
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough,...	ORPHA:3260
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Sho...	ORPHA:2835
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets, Thyroiditis, Weight loss, Infertility, Delayed puberty, Type I diabetes me...	OMIM:212750
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Respiratory distress, Multiple joint contractures, Prominent n...	ORPHA:79318
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Renal And Mullerian Duct Hypoplasia	Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Shor...	OMIM:266810
Malaria	Respiratory distress	ORPHA:673
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Keratoconjunctivitis...	OMIM:601675
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Anteverted nares, Upslanted palpebral fissure, Metopic synostosis, Short nose, F...	OMIM:613735
Mowat-Wilson Syndrome	Bifid scrotum, Uplifted earlobe, Pectus carinatum, Deeply set eye, Widely spaced teeth, Atrial se...	OMIM:235730
Legius Syndrome	Non-small cell lung carcinoma, Mitral valve prolapse, Diaphyseal dysplasia, Ovarian neoplasm, Abn...	ORPHA:137605
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Atrioventricular cana...	OMIM:605376
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	ORPHA:209905
Succinic Acidemia	Respiratory distress	OMIM:600335
Fucosidosis	Cardiomegaly, Abnormality of the dentition, Kyphosis, Brachycephaly, Anterior beaking of lumbar v...	ORPHA:349
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Cardiomegaly, Joint stiffness, Recurrent upper respiratory tract infections, Ovoi...	OMIM:252920
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, Short nose, Failure to thrive, Ptosis	OMIM:170100
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Jo...	OMIM:194050
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Abnormality of the elbow, Small hand...	ORPHA:85276
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi...	OMIM:613717
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventr...	ORPHA:210122
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Failure to thrive, Palmoplantar keratoderma, Conjunctivitis, Decreased lacrimation	OMIM:242150
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Breath-Holding Spells	Cyanosis	OMIM:607578
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Abnormal lung morpho...	ORPHA:97685
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Gray matter heterotopia, Cervical myelopathy, Inspirato...	OMIM:207950
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip...	ORPHA:79404
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr...	ORPHA:444013
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm...	ORPHA:93958
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie...	OMIM:614299
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Hypertelorism, Cryptorchidism, Patent du...	OMIM:600460
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo...	OMIM:612387
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Hypoxemia...	ORPHA:36238
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Diabetes mellitus, Rickets, Failure to thrive	ORPHA:2088
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft ha...	OMIM:157170
Acquired Methemoglobinemia	Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia	ORPHA:464453
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Pulmonar...	ORPHA:70588
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnorma...	ORPHA:1666
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe...	OMIM:615872
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Posteriorly rotated ears, Periventricular heterotopia, Sensorineural hearin...	OMIM:618733
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Protruding ear, Inlet ven...	OMIM:619534
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Small for gestational age	ORPHA:289266
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Stt3B-Cdg	Respiratory distress, Small scrotum, Microcephaly, Cryptorchidism, Intrauterine growth retardatio...	ORPHA:370924
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Tetanus	Respiratory distress, Trismus, Stiff neck, Tachypnea	ORPHA:3299
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart mo...	OMIM:154500
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Respir...	ORPHA:93941
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Respiratory tract infection, Myocardit...	ORPHA:36234
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnor...	OMIM:305100
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat...	ORPHA:980
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o...	ORPHA:286
Meckel Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Bowing of the long bones, True hermaphroditism,...	ORPHA:564
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog...	OMIM:308750
Sarcoidosis, Susceptibility To, 1	Bone cyst, Enlarged lacrimal glands, Clubbing, Weight loss, Arthritis, Abnormal salivary gland mo...	OMIM:181000
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob...	ORPHA:411703
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Congenital Tracheal Stenosis	Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio...	ORPHA:141127
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Anteverted nares, Micrognathia, Microcephaly, Patent ductus arteriosus, Ab...	ORPHA:2306
9q subtelomeric deletion syndrome	Synophrys, Anteverted nares, Short nose	DECIPHER:52
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased head circumferenc...	ORPHA:206436
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Vertigo, Cough	ORPHA:99825
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Ventricular septal defect, Pneumonia, Episodic tachypnea, Pericardial effus...	ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Hypospadias, Microcephaly, Stroke-like episode, High palate, Pulmonary arte...	OMIM:619272
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Hypospadias, Posteriorly rotated ears, Craniosynostosis,...	OMIM:615465
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ...	ORPHA:100057
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Carcinoid Syndrome	Pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Paraganglioma, A...	ORPHA:100093
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Failure to thrive, Epiphora	OMIM:616353
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Stiff neck, Areflexia of upper limbs, Myelopathy, Vertig...	ORPHA:268882
Cntnap2-Related Developmental And Epileptic Encephalopathy	Intermittent hyperventilation, Hypertelorism, Precocious puberty, Preaxial polydactyly, Abnormali...	ORPHA:163681
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Carnitine Deficiency, Systemic Primary	Respiratory distress, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic card...	OMIM:212140
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Ventricular septal defect, Increased pulmonary vascular resistanc...	ORPHA:97214
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn...	ORPHA:1359
Osteopetrosis With Renal Tubular Acidosis	Thickened calvaria, Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Microgna...	ORPHA:2785
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours...	ORPHA:3427
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Bone pain, Osteomalacia, Rickets	OMIM:193100
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Autosomal Dominant Cutis Laxa	Osteopenia, Genu recurvatum, Abnormal curvature of the vertebral column, Protruding ear, Emphysem...	ORPHA:90348
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnor...	OMIM:620233
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Stroke, Microcephaly	ORPHA:927
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert...	ORPHA:3109
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Hypoxemia, Prominent sternum, Pulmonary hypoplasia	ORPHA:2140
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Hypospadias, Apnea, Microcephaly, Sensorineural hearing impairment, P...	OMIM:252010
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent...	OMIM:618164
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect...	ORPHA:1329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Cardiomyopathy, Stroke	ORPHA:79312
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma...	ORPHA:85450
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Malabsorption, Tympanos...	OMIM:240300
Cystinosis, Nephropathic	Male infertility, Diabetes mellitus, Failure to thrive in infancy, Metaphyseal widening, Delayed ...	OMIM:219800
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Telecanthus, Underdeveloped nasal alae, Ankyloblepharon, Eyelid colobom...	OMIM:229400
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Conjunctival amyloidosis, Epiphora	ORPHA:98957
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate, ...	OMIM:612284
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Delayed sk...	ORPHA:1435
Familial Dysautonomia	Recurrent fractures, Osteolysis, Scoliosis, Avascular necrosis, Alacrima	ORPHA:1764
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly...	OMIM:107480
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Small scrotum, Small for gestational age, Pectus excav...	OMIM:613658
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Cystinosis	Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Failure to th...	ORPHA:213
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Rickets	OMIM:602722
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Cardiomegaly, Pericardial effusion,...	ORPHA:555874
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap...	ORPHA:637
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Esophageal varix, Dilated cardiomyopathy, Respiratory ...	ORPHA:367
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Autosomal Dominant Centronuclear Myopathy	Macrocephaly at birth, Proximal muscle weakness in upper limbs, Miscarriage, Respiratory insuffic...	ORPHA:169189
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Japanese Encephalitis	Respiratory distress, Irregular respiration, Stiff neck, Genu recurvatum, Elbow flexion contractu...	ORPHA:79139
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp...	OMIM:220110
Aspartylglucosaminuria	Joint laxity, Anteverted nares, Depressed nasal bridge, Kyphosis, Delayed skeletal maturation, Hy...	OMIM:208400
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm...	ORPHA:90051
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Neoplasm of t...	ORPHA:142
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Accelerated skeletal matur...	ORPHA:64
Buerger Disease	Acrocyanosis, Vasculitis	ORPHA:36258
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Ciliary Dyskinesia, Primary, 20	Ciliary dyskinesia, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasis, Bronchiecta...	OMIM:615067
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract	OMIM:620185
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Cardiomegaly, Accelerated skeletal maturation, Posterior helix pit, Promin...	ORPHA:116
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Rickets	OMIM:611590
Aicardi-Goutieres Syndrome 1	Petechiae, Microcephaly, Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, Prolonged...	OMIM:225750
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets, Elevated circulating parathyro...	OMIM:613388
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Bone pain, Rickets, Hypophosphatemic rickets, Elevated circulating parathyro...	OMIM:612089
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Limited hip extension, Flexion contracture, Corneal scarring, Talipes equinovarus, Hand clenching...	OMIM:614653
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Primary Dystonia, Dyt4 Type	Respiratory distress, Movement abnormality of the tongue, Open mouth, Kyphoscoliosis	ORPHA:98805
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia, Decreased lacrimation	ORPHA:240071
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Microcephaly, Respiratory insufficiency, Cardiomyopathy	ORPHA:159
Hypohidrotic Ectodermal Dysplasia	Frontal bossing, Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dent...	ORPHA:238468
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, An...	ORPHA:2250
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia, Corneal scarring, Decreased lacrimation	OMIM:616488
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Hypospadias, Microcephaly, Submucous cleft hard palate, Flexion contracture, Ankle clonus, Deeply...	OMIM:618891
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Progressive hearing impairment	OMIM:620166
Epithelial Recurrent Erosion Dystrophy	Epiphora, Keratoconjunctivitis sicca, Corneal scarring	ORPHA:293381
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Respiratory distress, Pulmonary edema, Transient ischemic attack, Cardio...	OMIM:115197
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Keloids, Cryptorchidism, Oligozoospermia	OMIM:314300
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Cerebral hemorrhage, Microcephaly, Secundum atrial septal de...	OMIM:617397
Listeriosis	Back pain, Respiratory distress, Pericarditis, Stiff neck, Osteomyelitis, Miscarriage, Pneumonia,...	ORPHA:533
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Arachnodactyly, Microcephaly, Pectus excavatum, V...	OMIM:219100
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul...	ORPHA:247691
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D...	ORPHA:3044
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Microcephaly, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdura...	ORPHA:79282
Histiocytoid Cardiomyopathy	Cyanosis, Ventricular septal defect, Cardiomegaly, Tachypnea, Cleft palate, Stroke-like episode, ...	ORPHA:137675
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Microcephaly, Situs ...	ORPHA:991
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Sinusitis, Aplasia of the thymus, Anterior rib cupping, Horizontal in...	OMIM:102700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia	OMIM:245590
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi...	OMIM:615512
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Alacrima, Hip dysplasia, Scoliosis, Hyperlordosis	OMIM:615356
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:103050
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis, Microcephaly	OMIM:250800
Aicardi-Goutières Syndrome	Multiple joint contractures, Cutis marmorata, Cardiomegaly, Microcephaly, Calcification of the ao...	ORPHA:51
Neurotrophic Keratopathy	Diabetes mellitus, Lacrimation abnormality, Corneal scarring	ORPHA:137596
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Joint stiffness	ORPHA:2400
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous ...	OMIM:250790
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato...	ORPHA:308552
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, ...	ORPHA:29207
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Vasculitis, Limitation of joint mobility, Erythema, Urticaria, Arthritis,...	ORPHA:343
Fabry Disease	Conjunctival telangiectasia, Abnormal femur morphology, Reduced bone mineral density, Emphysema, ...	ORPHA:324
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Myotonic Dystrophy 2	Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,...	OMIM:602668
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g...	OMIM:261740
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate	ORPHA:209908
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology	ORPHA:2374
Myotonic Dystrophy 1	Hypogonadism, Testicular atrophy, Respiratory distress	OMIM:160900
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Pneumonia, Increased pulmonary vasc...	ORPHA:99104
Lujo Hemorrhagic Fever	Respiratory distress, Stiff neck, Crackles, Myocarditis, Atelectasis, Nonproductive cough, Rhinit...	ORPHA:319213
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Respiratory insufficiency, Cyanosis	OMIM:610773
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Q Fever	Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pe...	ORPHA:781
Zygomycosis	Sinusitis, Acute infectious pneumonia, Colitis, Cough, Atelectasis, Nasal congestion, Retinal art...	ORPHA:73263
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Transient ischemic attack, Pneumonia, Breathing dysregulation, Increased pul...	ORPHA:99103
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Hypogonadotropic hypogonadism, Delayed skeletal maturation, Depressed nasal ridge, Am...	ORPHA:95494
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Flexion contracture, Thin ribs, Lissencephaly, Narrow mouth, Polymicrogyria	OMIM:614833
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Obesity, Upslanted palpebral fissure, Short nose, Joint hypermobility	ORPHA:293948
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Autoamputation of digits, Jaundice, Osteomyelitis leading to amputation due...	OMIM:256810
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, Prominent nose, Alacrima, Ptosis	OMIM:615510
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Ethylene Glycol Poisoning	Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, P...	ORPHA:31826
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Perisylvian polym...	ORPHA:268943
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Microcephaly, Jaundice, Atrial septal defect, Double outlet right ventricle	ORPHA:1667
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, Asthma, 2-3 toe synd...	OMIM:619471
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Rickets	ORPHA:79303
Posterior Polymorphous Corneal Dystrophy	Lacrimation abnormality	ORPHA:98973
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Impotence, Alacrima	OMIM:608088
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
Rodrigues Blindness	Narrow nasal bridge, Nasal flaring, Protruding ear, Ectodermal dysplasia, Tooth malposition	OMIM:268320
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Gray matter heterotopia, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Cadds	Short nose, Adrenal hypoplasia, Micrognathia	ORPHA:369942
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Herpes Simplex Virus Stromal Keratitis	Epiphora	ORPHA:137599
Senior-Loken Syndrome 8	Polydactyly, Vascular dilatation	OMIM:616307
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Alacrima, Neuropathic arthropathy, Scoliosis	OMIM:223900
Holoprosencephaly 14	Frontal bossing, Median cleft lip, Anteverted nares, Ventricular septal defect, Proboscis, Microc...	OMIM:619895
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Rickets	OMIM:607765
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture, Microcephaly	OMIM:618201
Wilson Disease	Hypoparathyroidism, Osteomalacia, Joint hypermobility, Osteoarthritis, Osteoporosis, Hyposmia, Ch...	OMIM:277900
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption	OMIM:152800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Primary hyperparathyroidism, Bone pain, Multiple lipomas, Chondrocalcinosis	OMIM:600740
Congenital Enterovirus Infection	Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion	ORPHA:292
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu...	ORPHA:1330
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Prost...	ORPHA:1546
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Microceph...	OMIM:618426
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Microcepha...	OMIM:614748
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Delayed cranial suture closure, Microcephaly,...	ORPHA:90349
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Primary Hyperoxaluria	Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, B...	ORPHA:416
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Stiff neck, Abnormality of the adrenal glands, Increased tear production, Hyposmia, Co...	ORPHA:68
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U...	ORPHA:100050
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Failure to thrive, Rickets, Osteomalacia	OMIM:227810
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Epistaxis, Pneumonia, Dyspnea, Intracranial hemorrhage, Respirat...	ORPHA:340
Mucoepithelial Dysplasia, Hereditary	Epiphora, Keratoconjunctivitis	OMIM:158310
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Osteomyelitis, Gastritis, Pneumonia, Mala...	ORPHA:37042
Cardiac Valvular Dysplasia 1	Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste...	OMIM:212093
Lesch-Nyhan Syndrome	Testicular atrophy, Podagra, Hip dislocation	OMIM:300322
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Rickets, Large for gestational age	OMIM:616026
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Cocaine Intoxication	Respiratory distress, Subarachnoid hemorrhage, Cerebral hemorrhage, Intestinal perforation, Diffu...	ORPHA:90068
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation, Myelopathy, Sensorineural hearing impairment, Hear...	ORPHA:79241
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Mitochondrial swelling	OMIM:615595
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Apnea, Downturned corners of mouth, Cardiomyopathy...	ORPHA:2131
Cone-Rod Dystrophy 10	Epiphora	OMIM:610283
Eosinophilic Fasciitis	Arthritis, Acrocyanosis	ORPHA:3165
Cone-Rod Dystrophy 8	Epiphora	OMIM:605549
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Myasthenia Gravis	Dyspnea, Acrocyanosis, Rheumatoid arthritis, Hearing impairment	ORPHA:589
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Acquired Purpura Fulminans	Intracranial hemorrhage, Acrocyanosis, Macular purpura	ORPHA:49566
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Bone Marrow Failure Syndrome 5	Hypogonadism, Delayed skeletal maturation, Testicular atrophy	OMIM:618165
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Keratoconjunctivitis sicca	ORPHA:309031
Lethal Congenital Contracture Syndrome 5	Death in infancy, Flexion contracture, Subdural hemorrhage, Respiratory insufficiency, Thin ribs,...	OMIM:615368
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Gastrointestinal stro...	ORPHA:221
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub...	OMIM:620067
Alacrima, Congenital, Autosomal Dominant	Lacrimal gland hypoplasia, Decreased lacrimation, Alacrima, Lacrimal punctal atresia	OMIM:103420
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Large placenta, Abnormal heart morphology, Coat hanger sign of ribs, U...	ORPHA:254534
Nocardiosis	Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pr...	ORPHA:31204
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Palmoplantar hyperkeratosis, Adrenocorticotropin receptor d...	OMIM:231550
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Pectus excavatum, Atelec...	OMIM:618278
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Lymphatic Malformation 7	Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl...	OMIM:617300
Penile Agenesis	Depressed nasal bridge, Maternal diabetes, Cryptorchidism, Bilateral talipes equinovarus, Absent ...	ORPHA:49
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Arthritis, Cardiomyo...	ORPHA:48435
Distal Renal Tubular Acidosis	Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduced bone mineral den...	ORPHA:18
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Transient ischemic attack, Jaundice, Stroke, Prolonged neonatal jaundice	OMIM:274150
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Symblepharon, Trichiasis, Atypical scarring of skin, Keratoconjunctivi...	ORPHA:95455
Peroxisome Biogenesis Disorder 4B	Short nose, Adrenal insufficiency, Single transverse palmar crease	OMIM:614863
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Alacrima, Ptosis	ORPHA:91416
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture	OMIM:617239
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Chylopericardium, Restricti...	ORPHA:538
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment	OMIM:251800
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Plague	Respiratory distress, Chapped lip, Abnormality of the elbow, Enterocolitis, Endocarditis, Acute i...	ORPHA:707
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima	OMIM:240000
Infantile Nephropathic Cystinosis	Failure to thrive, Rickets, Abnormality of thyroid physiology	ORPHA:411629
Gitelman Syndrome	Respiratory distress, Pericardial effusion, Vertigo, Gout, Varicose veins, Tinnitus, Chondrocalci...	ORPHA:358
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Alacrima, Congenital, Autosomal Recessive	Alacrima	OMIM:601549
Intellectual Disability-Alacrima-Achalasia Syndrome	Abnormality of the adrenal glands, Alacrima	ORPHA:289483
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Sensorineural hearing impairment, Dilated cardiomyopathy, Episodic respiratory di...	ORPHA:255210
Corneal Dystrophy, Posterior Polymorphous, 1	Epiphora	OMIM:122000
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridg...	OMIM:180500
Colchicine Poisoning	Respiratory distress, Myocarditis, Cardiorespiratory arrest	ORPHA:31824
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Pulmonary lymphangiomyoma...	ORPHA:805
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven...	OMIM:233450
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Alacrima	OMIM:300858
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice, Intrauterine growth retardation	OMIM:617156
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Weight loss, Arthritis, Joint swelling, Anoperineal fistula	OMIM:619381
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Cutis marmorata, Peripheral arterial stenosis, Bone pain, Patholo...	OMIM:259900
Helix Syndrome	Hyperparathyroidism, Alacrima	OMIM:617671
Familial Hypocalciuric Hypercalcemia	Lipoma, Osteomalacia, Chondrocalcinosis	ORPHA:405
Primary Fanconi Renotubular Syndrome	Osteomalacia, Bone pain, Weight loss, Increased susceptibility to fractures, Hypophosphatemic ric...	ORPHA:3337
Kasabach-Merritt Syndrome	Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Petechiae, Purpura	ORPHA:2330
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Granulomatous Disease, Chronic, X-Linked	Osteomyelitis, Atelectasis, Recurrent pneumonia, Rectal abscess, Cough, Pleural effusion	OMIM:306400
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Otosclerosis 10	Otosclerosis	OMIM:615589
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Leptospirosis	Respiratory distress, Pericarditis, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage	ORPHA:509

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ror2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ror2.

No publications found that use IMPC mice or data for Ror2.

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MGI Allele	Allele Type	Produced
Ror2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Ror2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ror2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ror2^em1(IMPC)Mbp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ror2 MGI:1347521

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Ror2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data