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Gene: Pkdcc MGI:2147077

Gene Summary

Name:

protein kinase domain containing, cytoplasmic

Synonyms:

Adtk1, ESTM17, MAd1, Vlk

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
abnormal heart morphology	Pkdcc^em1(IMPC)Mbp	HOM	E9.5
abnormal craniofacial morphology	Pkdcc^em1(IMPC)Mbp	HOM	E15.5
abnormal kidney morphology	Pkdcc^em1(IMPC)Mbp	HET	Early adult
small kidney	Pkdcc^em1(IMPC)Mbp	HET	Early adult
abnormal hindbrain development	Pkdcc^em1(IMPC)Mbp	HOM	E9.5
abnormal neural tube morphology	Pkdcc^em1(IMPC)Mbp	HOM	E9.5
abnormal facial morphology	Pkdcc^em1(IMPC)Mbp	HOM	E18.5
preweaning lethality, complete penetrance	Pkdcc^em1(IMPC)Mbp	HOM	Early adult
abnormal head shape	Pkdcc^em1(IMPC)Mbp	HOM	E18.5
abnormal pericardium morphology	Pkdcc^em1(IMPC)Mbp	HOM	E9.5
abnormal liver morphology	Pkdcc^em1(IMPC)Mbp	HET	Early adult
abnormal facial morphology	Pkdcc^em1(IMPC)Mbp	HOM	E15.5
embryonic growth retardation	Pkdcc^em1(IMPC)Mbp	HOM	E15.5
small liver	Pkdcc^em1(IMPC)Mbp	HET	Early adult
edema	Pkdcc^em1(IMPC)Mbp	HOM	E15.5
abnormal head shape	Pkdcc^em1(IMPC)Mbp	HOM	E15.5

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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.

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

23 Images

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Gross Morphology Embryo E9.5

Images

18 Images

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Gross Morphology Embryo E18.5

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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Human diseases caused by Pkdcc 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 Pkdcc (1 diseases)
Human diseases predicted to be associated with Pkdcc (1503 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Rhizomelic Limb Shortening With Dysmorphic Features		Hyperextensibility of the finger joints, Rhizomelia, Short neck, Micrognathia, Short thumb, Limit...	OMIM:618821

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

Disease	Matching phenotypes	Source
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Short nec...	OMIM:108721
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Otospondylomegaepiphyseal Dysplasia	Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Shox-Related Short Stature	Short neck, Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, High palat...	ORPHA:314795
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Kniest Dysplasia	Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abno...	OMIM:156550
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M...	OMIM:227270
Osteogenesis Imperfecta, Type X	Respiratory distress, Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Se...	OMIM:259420
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in...	OMIM:256050
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Abnormal hip joint morphology, Broad hallux, Talipes, Short metatarsal, F...	ORPHA:1856
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata...	ORPHA:950
Perching Syndrome	Respiratory distress, Cyanosis, High palate, Scoliosis, Dysphagia, Joint contracture, Camptodactyly	OMIM:617055
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Hypoplasia of the max...	OMIM:231070
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert...	OMIM:108720
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
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
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis...	OMIM:602471
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
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
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Cleft palate, Mesomelia, Vertebral segmentatio...	ORPHA:2631
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Hypoplastic ilia...	ORPHA:93315
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Recurrent respiratory infections, Asthm...	OMIM:616716
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,...	OMIM:211350
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t...	ORPHA:2501
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Downturned corners of ...	OMIM:615162
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi...	OMIM:300484
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Everted lower lip verm...	ORPHA:357175
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Autosomal Dominant Omodysplasia	Short palm, Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislocation, L...	ORPHA:93328
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat...	OMIM:164745
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
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
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Stuve-Wiedemann Syndrome 1	Apnea, Short neck, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Smooth ...	OMIM:601559
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyl...	ORPHA:294975
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu...	OMIM:611369
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate...	OMIM:618363
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Anteverted nares, Depressed nasal bridge, Rhizomelia, Micrognathia, Fl...	OMIM:222765
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit...	ORPHA:2557
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft...	OMIM:614078
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Short philtrum, Foot oligodactyly, Synostosis of carpal bones, H...	ORPHA:3258
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocati...	OMIM:618395
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathi...	OMIM:619135
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Micrognathia, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr...	OMIM:264700
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Metatarsus adduct...	ORPHA:2804
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi...	ORPHA:141152
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer...	OMIM:114290
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr...	OMIM:277440
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,...	OMIM:184260
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ...	ORPHA:1837
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Joint laxity, Ankle clonus, Respiratory failure, Tongue fasciculations, Hypo...	OMIM:600561
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, Tibial bowing, H...	ORPHA:251028
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor...	ORPHA:40
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respiratory insufficiency due ...	OMIM:611890
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum...	ORPHA:2741
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Limitation of joint mobility, Micromelia, Coxa vara	ORPHA:168555
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
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
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm...	ORPHA:1277
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti...	ORPHA:1801
Odontochondrodysplasia	Respiratory distress, Death in infancy, Bowing of the long bones, Delayed eruption of teeth, Micr...	ORPHA:166272
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ...	ORPHA:93351
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, W...	OMIM:201170
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Gingival ov...	ORPHA:1832
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ...	OMIM:619110
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Irregular...	OMIM:143095
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue...	OMIM:258860
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fo...	OMIM:616482
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Hyperekplexia 4	Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Talipes equinovarus...	OMIM:618011
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Micrognathia, Joint stiffness, Radial deviation of th...	ORPHA:1388
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Short finger, Tapered finger	OMIM:302000
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-mi...	ORPHA:245
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl...	ORPHA:916
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia...	OMIM:164900
Diastrophic Dysplasia	Proximal placement of thumb, Micrognathia, Micromelia, Symphalangism affecting the phalanges of t...	ORPHA:628
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ...	OMIM:616081
Autosomal Recessive Distal Osteolysis Syndrome	Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short dista...	ORPHA:2776
Familial Anetoderma	Irregular dentition, Lumbar hyperlordosis, High, narrow palate, Generalized joint laxity, Abnorma...	ORPHA:228277
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, High palate, Prenatal d...	OMIM:618393
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Ovoid vertebra...	OMIM:269250
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress...	OMIM:616809
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Neonatal respiratory distress, Increased intervertebral space, Thoracic platyspond...	OMIM:618961
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg...	OMIM:313420
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, ...	ORPHA:289157
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost...	OMIM:612961
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death...	OMIM:300717
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti...	OMIM:614399
Spinal Muscular Atrophy, Type I	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:253300
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed...	OMIM:616583
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S...	ORPHA:53697
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pal...	OMIM:620269
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Short palm, Duplication ...	OMIM:268310
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibia...	ORPHA:453510
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Aggre...	ORPHA:85279
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi...	ORPHA:93329
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lower lip vermilion,...	OMIM:102370
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polyda...	ORPHA:3098
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, ...	OMIM:151210
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Prominent nasal bridge, Ab...	ORPHA:1307
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow...	ORPHA:2662
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A...	ORPHA:90653
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Thin upper lip vermilion, Wide nose, Short femur, Sandal gap, Short humerus...	OMIM:607143
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Increased fibular diame...	OMIM:258315
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand pol...	OMIM:136760
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv...	ORPHA:1803
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Aarskog-Scott Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac...	ORPHA:915
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met...	ORPHA:1540
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Dysp...	ORPHA:3015
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micrognathia, Absent thumb, Absent radius, Micromelia, Humeroradial ...	OMIM:251230
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial...	OMIM:304120
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C...	OMIM:263750
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Prominent nasal bridge, Craniosynostosis, Micrognathia, Ca...	ORPHA:96097
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Short neck, Micrognathia, Knee flexion contracture, Cutaneous finger ...	OMIM:114300
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ...	OMIM:314390
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening...	OMIM:223200
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas...	OMIM:132400
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f...	OMIM:277170
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, A...	ORPHA:2257
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence	OMIM:179270
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypo...	OMIM:617895
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Short neck, Micrognathia, Hypoplasia of the ma...	ORPHA:96334
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Osteopeni...	OMIM:616229
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Glass Syndrome	Smooth philtrum, Apnea, Arachnodactyly, Anterior tibial bowing, Micrognathia, Dental crowding, Co...	OMIM:612313
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Widely s...	OMIM:218330
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Flexion contracture, Elbow flexion contracture, Hip dislocation, Hyperext...	ORPHA:75840
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim...	ORPHA:2204
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal br...	ORPHA:3404
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver...	OMIM:301014
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate...	OMIM:246560
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ...	ORPHA:56304
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso...	ORPHA:94068
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, Anis...	ORPHA:1865
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Recurrent respiratory infections, Death in infancy, Jaundice, Early ossif...	OMIM:208500
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Hypopl...	ORPHA:397973
Immunodeficiency 43	Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Lung abscess, Bronchiect...	OMIM:241600
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ...	OMIM:613091
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone,...	OMIM:619751
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Pierre-Robin sequence, Cleft ...	OMIM:184840
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis...	OMIM:256200
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Lujan-Fryns Syndrome	Dental crowding, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the...	ORPHA:776
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, M...	ORPHA:293939
Blount Disease, Adolescent	Genu varum, Bowing of the legs	OMIM:259200
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High...	ORPHA:2751
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg...	OMIM:609223
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo...	ORPHA:2759
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ...	OMIM:615398
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Progeroid facial appearance, Hypoplasia of the maxilla, Genu valgum, Slender long bon...	OMIM:608154
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Recurrent pneumonia...	OMIM:215150
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Anal ...	OMIM:276950
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ...	ORPHA:2919
Dysostosis, Stanescu Type	Narrow nasal bridge, Increased bone mineral density, Bowing of the long bones, Abnormal dental en...	ORPHA:1798
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl...	OMIM:619334
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow palate, 2-...	OMIM:618186
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narro...	ORPHA:261295
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, Flexion con...	OMIM:218000
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg...	OMIM:255800
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Wide nasal ...	ORPHA:1352
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger...	OMIM:212720
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th...	OMIM:616145
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ...	ORPHA:137914
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Hypoplastic iliac wing, Ulnar bowing, Fem...	OMIM:620076
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Restrictive Dermopathy 2	Respiratory distress, Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove...	OMIM:619793
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Postaxial polydactyl...	OMIM:619142
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival...	OMIM:616331
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn...	ORPHA:177
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morpho...	ORPHA:93262
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Depressed nasal bridge, Sandal gap, Pro...	ORPHA:90650
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Pallister-Hall-Like Syndrome	Death in infancy, Median cleft lip, Depressed nasal bridge, Toe syndactyly, Micromelia, Micrognat...	OMIM:241800
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Natal tooth, Sandal gap, Ulnar deviation of the hand, Postaxial ...	OMIM:612651
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Irregular vertebral endplates, Pla...	ORPHA:250984
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Wrist swelling,...	OMIM:166300
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Anteverte...	OMIM:600373
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Micrognathia,...	OMIM:215100
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Neuralgic Amyotrophy	Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis	ORPHA:2901
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Mucolipidosis Type Iii	Craniofacial hyperostosis, Hyperlordosis, Joint stiffness, Abnormal form of the vertebral bodies,...	ORPHA:577
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Pr...	ORPHA:763
48,Xyyy Syndrome	Depressed nasal bridge, Impulsivity, Aggressive behavior, Asthma, Thick lower lip vermilion, Recu...	ORPHA:99329
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Hypoplasia of the uln...	ORPHA:2909
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postax...	OMIM:617102
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve...	OMIM:610910
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Waardenburg Syndrome Type 3	Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Atelec...	ORPHA:896
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Abnormal b...	ORPHA:163649
Alagille Syndrome	Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Long nose, Short philtrum, Clin...	ORPHA:52
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Hyperextensibility at wrists, Synovitis, Lumbar...	OMIM:601492
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla...	OMIM:620099
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Cleft palate, Aplasia/...	ORPHA:2145
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Abnormal thumb morpholo...	ORPHA:1597
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Abnormality of subcutaneous fat tissue, Osteomalacia, Coxa valga, Avascular necrosis ...	ORPHA:1901
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,...	OMIM:300534
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Short lingual frenulum, Depressed n...	OMIM:619479
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ...	ORPHA:3201
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Be...	OMIM:616897
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Cel...	ORPHA:576283
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o...	OMIM:613849
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Thick na...	ORPHA:192
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal wi...	OMIM:612813
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Achondrogenesis Type 1A	Short palm, Anteverted nares, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ...	ORPHA:93299
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones...	OMIM:215045
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Anteverted nares, Overlapping t...	ORPHA:3309
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Widely spaced teeth...	OMIM:601216
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormality of the dentition,...	ORPHA:93160
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi...	OMIM:200600
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture	OMIM:615348
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Increased bone minera...	ORPHA:166119
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening	OMIM:300261
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Submucous c...	OMIM:108300
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w...	OMIM:617809
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, ...	OMIM:613320
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Equinovarus def...	OMIM:224400
Cohen Syndrome	Short metacarpal, Prominent nasal bridge, Single transverse palmar crease, Micrognathia, Hypoplas...	OMIM:216550
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multiplex con...	OMIM:616570
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Narrow nasal bri...	OMIM:309520
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Respiratory insufficiency, Postaxial foot...	ORPHA:474
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Acrocephalopolydactyly	Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Gastroesophageal reflux, Hypoplastic cer...	ORPHA:79345
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Congenital hip dislocation, Multiple joint contractures, Overlapping fingers, Femu...	OMIM:618291
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing r...	OMIM:617866
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Short foot, Aplasia...	ORPHA:93298
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Prominen...	OMIM:210600
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Achondrogenesis	Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Aplasia/Hypoplasia ...	ORPHA:932
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub...	ORPHA:2712
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib mor...	ORPHA:1988
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Toe clinodactyly, Dental crowding, Anteverted nares, Prominent nasal bridge...	ORPHA:251019
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve...	OMIM:134780
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Shoulder girdle muscle weakness, Achilles tendon contracture	OMIM:604801
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Short ribs, Absent or minima...	OMIM:600972
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Anteverted nares, Depressed nasa...	OMIM:610015
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn...	ORPHA:2319
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Recurrent upper respiratory tract inf...	ORPHA:508542
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Intestinal ma...	ORPHA:244
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss...	OMIM:210710
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Anteverted nares, Cone-shaped epiphyses of the phalanges of ...	ORPHA:420794
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long fingers, ...	OMIM:608149
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif...	OMIM:615777
Schinzel-Giedion Syndrome	Respiratory distress, Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteri...	ORPHA:798
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab...	ORPHA:2021
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility,...	OMIM:618853
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi...	ORPHA:90117
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata...	ORPHA:356961
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, Respiratory insufficiency,...	OMIM:224410
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
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor...	OMIM:618019
Sandestig-Stefanova Syndrome	Rocker bottom foot, Wide nasal bridge, Orofacial cleft, Respiratory failure, High palate, Camptod...	OMIM:618804
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Dysspondyloenchondromatosis	Osteoarthritis, Generalized joint laxity, Abnormal fibula morphology, Genu valgum, Multiple encho...	ORPHA:85198
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid ...	OMIM:224690
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa...	ORPHA:79107
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Restlessness, Short distal phalanx of finger	OMIM:300266
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, Short ...	OMIM:614524
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea...	ORPHA:1318
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Congenital hip dislocation, Anteverted nares, Depressed nasal ridge...	ORPHA:2412
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Recurrent respiratory infections, Anteverted nares, Rhizomelia, Micromelia...	ORPHA:1842
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti...	OMIM:259770
Tibial Hemimelia	Absent tibia	OMIM:275220
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft lip, Esophageal dive...	OMIM:617925
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Velopharyngeal ins...	OMIM:614701
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Abnormality of the tongue muscle, Hip dislocation, Respiratory insuf...	ORPHA:370968
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar aplasia, Slender lon...	OMIM:613804
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Acro-Renal-Ocular Syndrome	Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Aganglionic megacolon, Broad hallux ...	ORPHA:959
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Diaphanospondylodysostosis	Respiratory distress, Short neck, Missing ribs, Cleft palate, Narrow pelvis bone, Absent or minim...	ORPHA:66637
Hypophosphatasia, Infantile	Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, Micromelia, Abnormality of the den...	OMIM:241500
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Asthma, Cleft palate, Increased overbite,...	OMIM:618761
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, Micrognathia, High, nar...	ORPHA:2780
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ...	ORPHA:60033
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te...	OMIM:257850
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Congenital contracture	OMIM:225753
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ...	OMIM:614753
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Recurrent respiratory infections, Neon...	OMIM:618356
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb...	ORPHA:83468
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t...	OMIM:271665
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Wid...	OMIM:225410
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Respiratory insufficiency, C...	OMIM:201550
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Malar flattening, Short neck, Wide dist...	OMIM:269150
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr...	OMIM:613390
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Osteopenia, Telangiectasia of the skin, Camptodactyly ...	ORPHA:2176
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Neonatal respiratory distress, Pes planus, Monkey wrench femoral...	OMIM:618870
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H...	ORPHA:239
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Joint stiffness, Talipes, Aplasia/Hypoplasia of the patella	ORPHA:1149
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Tarp Syndrome	Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted...	ORPHA:2886
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Postaxial po...	OMIM:619879
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Anteverted nares, Arachnodactyly, Broad hallux, Aggressive behavior, Hypoplasia ...	ORPHA:481152
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir...	ORPHA:1159
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Anteverted nares, Depressed nasal bridge, Overlapping toe, Apnea, ...	OMIM:617301
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Microretrognathia, Joint laxity, Congenital hip dislocation, Sudd...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Microretrognathia, Joint laxity, Congenital hip dislocation, Sudd...	ORPHA:98914
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival...	OMIM:618529
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Em...	ORPHA:436
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Recurrent respiratory infections, Apnea, Abnormal dental en...	ORPHA:10
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossificati...	OMIM:183900
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ...	ORPHA:2345
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abn...	ORPHA:2707
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:560
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Joint stiffness, Cleft palate, Respiratory insufficiency, Tooth agenesis, Vertebral...	ORPHA:1166
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe, Anteverted ...	OMIM:264090
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Hypoplasia of the maxilla, Carious teeth, Posterior wedgin...	ORPHA:50814
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Depressed nasal bridge, Promin...	ORPHA:794
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Prader-Willi Syndrome Due To Imprinting Mutation	Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morphology, Polyphagia	ORPHA:177910
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Pes planus, Multiple joint contractures, Spinal rigidit...	ORPHA:324604
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Intermediate Nemaline Myopathy	Multiple prenatal fractures, High, narrow palate, Flexion contracture, Respiratory failure, Long ...	ORPHA:171433
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Hiatus hernia, Coxa valga, Capitate-hamate fu...	OMIM:304150
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t...	ORPHA:2588
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Stickler Syndrome, Type Ii	Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micrognathia, High, narrow palate, Long...	OMIM:604841
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm...	ORPHA:166100
Esophageal Atresia	Respiratory distress, Gastrointestinal dysmotility, Anorectal anomaly, Clinodactyly, Gastroesopha...	ORPHA:1199
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Hypophosphatasia, Childhood	Craniosynostosis, Premature loss of primary teeth, Carious teeth, Bowing of the legs, Rachitic ro...	OMIM:241510
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, High, nar...	ORPHA:2879
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ...	OMIM:182212
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor...	ORPHA:2636
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p...	OMIM:619143
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop...	ORPHA:1860
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones...	OMIM:614091
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas...	ORPHA:3144
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat...	ORPHA:747
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Dysph...	ORPHA:2590
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Accessory...	OMIM:211750
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of ...	ORPHA:251061
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Cornelia De Lange Syndrome 5	Toe syndactyly, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, B...	OMIM:300882
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C...	OMIM:620107
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Long foot	OMIM:300676
Blomstrand Lethal Chondrodysplasia	Micrognathia, Distal shortening of limbs, Increased bone mineral density, Short metacarpal, Antev...	ORPHA:50945
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Short humerus, Recurrent respiratory infections, Short femur, Apnea, Aggres...	ORPHA:17
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, High palate, Bilateral coxa valga, Bifid uvula, Arach...	OMIM:615582
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Cyanosis, Restrictive ventilatory def...	ORPHA:98913
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ...	OMIM:187600
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Clef...	OMIM:129400
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ...	ORPHA:1302
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Short neck, Narrow philtrum, Cuboid-shaped vert...	ORPHA:163654
Microcephaly-Capillary Malformation Syndrome	Wide nose, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Cleft palate, Short nose, Shor...	OMIM:614261
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Broad na...	OMIM:619736
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ...	OMIM:618779
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Sacral dimple, Vertebral fusion, Short long bone, Vertebral segmentation defect...	OMIM:618845
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b...	OMIM:612916
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail...	OMIM:616867
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Respiratory failure	ORPHA:1861
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Micrognathia, Hypoplasia ...	OMIM:613803
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L...	ORPHA:198
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Underdeveloped nasal alae, Micrognathia, High, narrow...	ORPHA:2516
Tarp Syndrome	Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palm...	OMIM:311900
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Split hand, Wide nasal bridge, Respiratory failure	ORPHA:168486
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue fasciculations, Tongue atrophy	OMIM:613435
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Wide nasal bri...	ORPHA:3304
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abn...	ORPHA:263463
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Smith-Mccort Dysplasia 2	Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femor...	OMIM:615222
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Patellar hypoplasia, Thoracic kyphosis, High palate, Sho...	ORPHA:3041
3Mc Syndrome 2	Prominence of the premaxilla, Limited elbow movement, Craniosynostosis, Cleft upper lip, Hip disl...	OMIM:265050
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Overlapping toe, Cleft palate, High palate, Compulsive behaviors, Attention deficit hyperactivity...	OMIM:620021
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Anteverted nares, Tapered finger, Bulbous nose, Flexion contracture, ...	OMIM:616505
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c...	OMIM:268300
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ribs, ...	OMIM:619122
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Kyphoscoliosis, Postaxial polydactyly, Cl...	OMIM:614815
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Choanal stenosis, Microdontia, Neon...	OMIM:259775
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Gm1-Gangliosidosis, Type Ii	Coxa valga, Protruding tongue, Joint stiffness, Narrow mouth, Gingival overgrowth, Hypoplastic ve...	OMIM:230600
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ...	ORPHA:2554
2Q31.1 Microdeletion Syndrome	Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Down-sloping shoulders, Stridor, Pr...	OMIM:606071
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of th...	ORPHA:2409
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos...	ORPHA:3121
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ...	OMIM:610682
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Abnormal respi...	ORPHA:171866
Beta-Mercaptolactate Cysteine Disulfiduria	Anteverted nares, Arachnodactyly, Sandal gap, Micromelia, Genu valgum, Joint hyperflexibility, Hi...	ORPHA:1035
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Arterial Tortuosity Syndrome	Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Prematurely aged...	ORPHA:3342
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Respir...	ORPHA:2655
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt...	ORPHA:435638
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol...	OMIM:126550
Moebius Syndrome	Respiratory distress, Short neck, Micrognathia, High palate, Lower limb undergrowth, Short phalan...	OMIM:157900
Microphthalmia, Syndromic 12	Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft palate, Pulmonary...	OMIM:615524
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia	OMIM:601809
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar...	OMIM:122470
Native American Myopathy	Joint laxity, Micrognathia, Respiratory insufficiency, Abnormal curvature of the vertebral column...	ORPHA:168572
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Wide nasal b...	OMIM:106260
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Short neck, Hyperlordosi...	ORPHA:582
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Respiratory failure, ...	ORPHA:1194
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Hyperlordosis, Mi...	OMIM:615065
Hypertrichosis Cubiti	Joint hyperflexibility, Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Dental crowding, Oral-pharyngeal dysphagia, Joint stiffne...	OMIM:619184
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Submucou...	OMIM:613805
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short...	OMIM:619638
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Micrognathia, Short neck, Craniosynostosis, Kn...	ORPHA:284417
Tetraploidy	Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Co...	ORPHA:3305
Typical Nemaline Myopathy	Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Micrognathia, Hip dislocation, Flexion cont...	ORPHA:171436
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli...	ORPHA:158687
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Atelectasi...	OMIM:269860
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Osteomyelitis, Bronchitis, Pneumonia, Ab...	ORPHA:449280
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Dysp...	ORPHA:171430
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections...	ORPHA:70
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
49,Xxxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Depressed nasal ridge, Clinodactyly of the 5th finger,...	ORPHA:96264
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp...	ORPHA:199241
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum...	ORPHA:96184
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Aplasia/Hypoplasia of the n...	ORPHA:2095
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, ...	OMIM:119600
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Hiatus hernia,...	ORPHA:50
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Abnormality of the dentition, Kyphosis, Small hand, Short...	ORPHA:238750
Shprintzen-Goldberg Syndrome	Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Apnea,...	ORPHA:2462
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido...	ORPHA:2004
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Anteverted nares, Depres...	OMIM:608156
Orofaciodigital Syndrome Iii	Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydac...	OMIM:258850
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Long foot, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Large han...	ORPHA:500095
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Achilles tendon contracture, Restrictive ventilatory defect,...	OMIM:606612
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, ...	OMIM:613823
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure, High palate, Arthrogryposis multiplex congenita, ...	OMIM:615330
Acrofrontofacionasal Dysostosis	Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft...	ORPHA:1784
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia...	ORPHA:94066
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Short neck, Micrognathia, Downturned corners of mouth, Gastroe...	OMIM:619297
Autosomal Dominant Spondylocostal Dysostosis	Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Abnormal rib morphology, Cle...	ORPHA:1797
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ...	ORPHA:2522
Birk-Barel Syndrome	Reduced subcutaneous adipose tissue, Microretrognathia, Sacral dimple, Tented upper lip vermilion...	OMIM:612292
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal ridge...	OMIM:620370
Rapadilino Syndrome	Slender nose, Absent thumb, Aplasia/Hypoplasia of the patella, High, narrow palate, Cleft palate,...	OMIM:266280
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Prominent nose, Tapered finger, Long fingers, Thick lower lip vermilion, Joint contracture of the...	OMIM:614407
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil...	ORPHA:228396
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Na...	ORPHA:93946
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Abnormal cartilage matrix, Respiratory insufficiency	OMIM:245650
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Wide anterior fontan...	OMIM:207410
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf...	ORPHA:36238
Panner Disease	Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar...	ORPHA:97336
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Anal stenosis, Syndactyly, Micrognathia, Hypoplasia of the maxil...	ORPHA:314679
Larsen Syndrome	Finger syndactyly, Craniosynostosis, Accessory carpal bones, Respiratory insufficiency, Cleft pal...	ORPHA:503
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Micrognathia, Flexion contracture, Knee flexion cont...	ORPHA:2020
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Limitation of joint mobility, Respiratory insufficiency, Apla...	ORPHA:93274
48,Xxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Depressed nasal ridge, Clinodactyly of the 5th finger,...	ORPHA:96263
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Achilles tendon contracture, Calf muscle hypertrophy, R...	OMIM:603689
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Respiratory failure, Death in infancy	OMIM:618240
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence...	ORPHA:37553
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Rib fusion, Supernumerary ...	ORPHA:64755
Hartsfield Syndrome	Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Respir...	ORPHA:2117
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Kyphosis...	ORPHA:2916
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lo...	OMIM:616462
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal wideni...	OMIM:263210
Stüve-Wiedemann Syndrome	Respiratory distress, Osteopenia, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K...	ORPHA:3206
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platysp...	OMIM:619131
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Abnormalit...	ORPHA:1794
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Bulbous...	OMIM:236500
Schwartz-Jampel Syndrome	Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, D...	ORPHA:800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar...	ORPHA:508533
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Overla...	ORPHA:254528
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Abnormal rib morpho...	OMIM:602196
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Sh...	ORPHA:436003
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Apnea, Large sternal ossification centers, Distal wideni...	OMIM:602535
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hyperlo...	OMIM:226980
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High...	OMIM:617402
Gm1 Gangliosidosis	Mandibular prognathia, Recurrent respiratory infections, Depressed nasal bridge, Camptodactyly of...	ORPHA:354
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Limitation of joint mobility, Flexion contracture, Hip dislocation, Emphysema	ORPHA:171719
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced...	OMIM:618737
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Respiratory distress, Dysphagia, Respiratory failure, Hi...	OMIM:620278
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Distal...	OMIM:254090
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Malar ...	ORPHA:921
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia...	OMIM:603671
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic hemivertebrae, Anal...	OMIM:309620
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo...	OMIM:612387
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral col...	OMIM:239800
Temple Syndrome	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Flexion contracture, Small han...	OMIM:616222
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Recurrent respiratory infections, Osteomyelitis, Recurrent...	ORPHA:2314
Rothmund-Thomson Syndrome Type 2	Osteopenia, Long nose, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Short phal...	ORPHA:221016
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu...	OMIM:604757
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle...	ORPHA:217017
Pitt-Hopkins Syndrome	Short neck, Short metatarsal, Narrow foot, Finger clinodactyly, Gastroesophageal reflux, Short ph...	ORPHA:2896
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath...	ORPHA:1908
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni...	OMIM:620249
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Short neck, Micrognathia, Vertebral segmentation de...	ORPHA:263508
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Spinal canal ...	OMIM:277600
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Short neck, Micrognathia, Narrow palate, Femoral bowing, Macroglo...	OMIM:617022
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Reduced bone mine...	ORPHA:828
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Resp...	ORPHA:207
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Re...	OMIM:609465
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Vertebr...	OMIM:139210
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Short neck, Thick lower lip vermilion, Dental maloccl...	ORPHA:2563
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia ...	OMIM:180849
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Recurrent lower re...	OMIM:618005
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Ventricular septal defect, Short stature, Hydrocephalus, Brachycephaly, Abnormal...	OMIM:218350
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s...	ORPHA:3138
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Micromelia, Prominent nose, Underdeveloped nasal alae, Wide nas...	ORPHA:2637
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Apnea	OMIM:610992
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Fra...	ORPHA:496641
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia	OMIM:620306
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Dilated cardiomyopathy, Brachycephaly, Plagiocephaly, Dolichocephaly, Intrauterine...	ORPHA:272
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Talipes equinovarus, Dysphagia	OMIM:150260
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala...	OMIM:263650
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Retinal telangie...	OMIM:620157
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Pelviscapular Dysplasia	Hypoplastic scapulae, Short femur, Congenital hip dislocation, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Cleft upper lip, Flexion contracture...	OMIM:312150
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac...	OMIM:211380
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Submuco...	ORPHA:2671
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Anteriorly pl...	ORPHA:1299
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ...	ORPHA:3455
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa...	OMIM:312170
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou...	OMIM:225060
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin...	OMIM:241310
Keutel Syndrome	Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys...	OMIM:245150
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger	OMIM:242500
Acrocraniofacial Dysostosis	Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Prominent nasal bridge, Tapere...	ORPHA:949
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, High palate, Se...	OMIM:213980
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to...	OMIM:146300
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93259
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc...	OMIM:166200
Chromosome 15Q11.2 Deletion Syndrome	Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture...	OMIM:615656
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Arthritis, Vasculitis in the skin, Recu...	OMIM:620321
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi...	ORPHA:254361
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Cutaneous fi...	OMIM:606851
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng...	ORPHA:2254
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil...	OMIM:166220
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratos...	OMIM:615108
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery atresia, Shor...	OMIM:616894
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hem...	ORPHA:2038
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Micromelia	ORPHA:2772
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un...	OMIM:608572
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Progeroi...	OMIM:613177
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo...	OMIM:608836
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2189
Tibial Muscular Dystrophy	Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Respiratory failure,...	ORPHA:609
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Genu valgum, Contracture of the distal interphalangeal j...	OMIM:216800
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro...	ORPHA:404440
Marden-Walker Syndrome	Anteverted nares, Arachnodactyly, Micrognathia, High, narrow palate, Narrow mouth, Pyloric stenos...	OMIM:248700
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Inspiratory stridor...	OMIM:604320
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r...	ORPHA:2399
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, High palate, Neonatal death, Retrognathia, J...	OMIM:300219
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, High palate, Wid...	OMIM:303600
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Broad hallux, Sandal gap, Short 2nd finger,...	OMIM:600987
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebral column, Mala...	OMIM:109120
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces...	OMIM:258480
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrognathia	OMIM:619981
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Allergic rhinitis, Ulnar deviation of the wrist, Asthma, 2-3 toe s...	OMIM:618162
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o...	OMIM:618265
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Dental crowding, Ta...	OMIM:300990
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Coxa valga, Bowing of the legs, Micrognathia, Metaphyseal widening, 2-3...	OMIM:617164
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Abnormality of the nose, Short thumb, Clinodactyly, ...	ORPHA:1708
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Short palm, Apnea, Prominent nasal bridge,...	ORPHA:85201
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Scapular winging, ...	OMIM:272460
Weill-Marchesani Syndrome 2	Short metacarpal, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad metat...	OMIM:608328
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate, Pseudo...	OMIM:607371
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous...	ORPHA:335
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Gingival o...	OMIM:259720
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Anal stenosis, Lumbar hyperlordosis, Aganglionic megacolon, ...	OMIM:250250
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor...	OMIM:249420
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Muscular Dystrophy, Duchenne Type	Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,...	OMIM:310200
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick ver...	ORPHA:370930
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Flexion co...	OMIM:619124
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Bulbous...	OMIM:609460
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb	OMIM:617784
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Thoracic scoliosis, Recurrent fractures, High palate, Hand clenching, Overlappin...	OMIM:606056
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Short finger, Tapered finger	ORPHA:1867
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, De...	ORPHA:99742
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio...	OMIM:605432
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Cleft palate, Short distal phala...	OMIM:181180
Double Outlet Right Ventricle	Cyanosis, Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ea...	ORPHA:3426
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention...	OMIM:619580
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratos...	OMIM:615109
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Short neck, Thick lower lip vermilion, Dental maloccl...	OMIM:157980
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Dpm1-Cdg	Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Micrognathia, High, narrow palate...	ORPHA:79322
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hydrocephalus, Brachycephaly, Double outlet right ventricle, Prominent...	OMIM:220210
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Facial erythema, Microdontia, Short phalanx of finger, Genu varu...	ORPHA:221008
Stevenson-Carey Syndrome	Central hypoventilation, Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Hip dy...	OMIM:611961
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Branchial cyst, Anteverted nares, Broad...	OMIM:615583
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Flexion co...	ORPHA:98905
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:994
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Desmosterolosis	Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, Micromelia, Micro...	ORPHA:35107
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia	OMIM:193100
Ullrich Congenital Muscular Dystrophy 2	Kyphoscoliosis, Flexion contracture, High palate, Nocturnal hypoventilation, Joint hypermobility	OMIM:616470
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Fused c...	OMIM:619227
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory fai...	ORPHA:449285
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Pallister-Hall Syndrome	Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Synda...	OMIM:146510
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger...	ORPHA:2215
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Anteverted nares, Clinodactyly, Pierre-Robin sequence, Small hand, ...	OMIM:619980
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Respiratory t...	OMIM:618975
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Dravet Syndrome	Impulsivity, Limited knee extension, Obsessive-compulsive trait, Cyanotic episode, Tibial torsion	ORPHA:33069
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Arachnodactyly, Hip dislocation	OMIM:614100
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Respiratory insufficiency, Postaxial polydactyly, Brachydactyly	OMIM:615633
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Atelectasis, Inte...	ORPHA:258
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Tics, Compulsive behaviors, Short palm, Clinodactyly of the 5th finger, Bran...	ORPHA:261330
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia	ORPHA:93950
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Absent th...	ORPHA:392
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Pulmonary artery atresia, Self-m...	OMIM:214800
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Loeys-Dietz Syndrome 4	Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Hi...	OMIM:614816
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve...	ORPHA:99931
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Hyposmia, Clinodactyly	OMIM:614838
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout...	OMIM:619950
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Dysphagia, Tapered finger	OMIM:618367
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Anteverted nares, Prominent nasal bridge, Recurrent pneumonia, Short 5th finger, Ac...	ORPHA:500159
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet...	OMIM:102500
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ...	ORPHA:2549
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia...	ORPHA:1855
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ...	ORPHA:1826
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Trisomy 8Q	Camptodactyly of finger, Short neck, Micrognathia, Joint stiffness, Non-midline cleft lip, Bone c...	ORPHA:1752
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Schilbach-Rott Syndrome	Prominent nose, Micrognathia, Long nose, 2-3 toe cutaneous syndactyly, Submucous cleft hard palat...	OMIM:164220
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Osteopenia, Joint laxity, Pes planus, Thin upper lip vermilion, Cariou...	OMIM:607812
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Cough, Atelec...	ORPHA:2357
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the hand, Abnormality of the dentition, Micrognathia,...	ORPHA:476126
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Abnormal morphology of ulna, Joint stiff...	ORPHA:93
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus ...	OMIM:304050
Larsen-Like Syndrome	Joint laxity, Wide anterior fontanel, Dental malocclusion, Cleft palate, Absent nasal bridge, Rad...	OMIM:608545
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Micrognathia, Underdeveloped nasal alae, Apl...	ORPHA:1234
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Dysphagia, Respiratory insufficiency, ...	OMIM:607625
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Buratti-Harel Syndrome	Broad hallux, Velopharyngeal insufficiency, Recurrent pneumonia, Submucous cleft hard palate, Bif...	OMIM:619314
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Elbow fle...	OMIM:618493
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Micrognathia, Prominent nose, Clinodactyly, Downturned corners of mouth, Hi...	ORPHA:177907
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Depressed nasal ridge, Cleft palate, Increas...	OMIM:253290
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy...	OMIM:252500
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Sa...	OMIM:616835
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,...	ORPHA:884
Alagille Syndrome 1	Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Concave nasal ridge, Pro...	OMIM:118450
Zttk Syndrome	Unilateral lung agenesis, Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition,...	OMIM:617140
Dyskeratosis Congenita	Recurrent respiratory infections, Esophageal stenosis, Telangiectasia of the skin, Recurrent frac...	ORPHA:1775
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Ankle clonus, Proximal muscle weakness in upper limbs, Respiratory failure	OMIM:613954
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol...	ORPHA:233
Mosaic Trisomy 9	Camptodactyly of finger, Rocker bottom foot, Short neck, Intestinal malrotation, Micrognathia, Mi...	ORPHA:99776
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Long nose, Oligodontia, Humeral pseudarthrosis, Short philtrum, Compul...	ORPHA:2044
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Exertional dyspnea	ORPHA:621
Osteopathia Striata With Cranial Sclerosis	Apnea, Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala...	OMIM:300373
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil...	OMIM:609220
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Single transverse palmar crease, Flexion contracture, Limb undergr...	ORPHA:79243
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
German Syndrome	Short stature, Lymphedema, Brachycephaly, Abnormal cardiac septum morphology, Dolichocephaly, Tet...	ORPHA:2077
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Atelectasis, Cleft palate, Agenesis of permanent ...	ORPHA:1401
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Gastroesophageal...	ORPHA:534
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Thick nasal alae, Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Deep palm...	ORPHA:293725
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasa...	OMIM:217980
Alg1-Cdg	Respiratory failure, Limitation of joint mobility, Protein-losing enteropathy	ORPHA:79327
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental e...	ORPHA:85199
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Fanconi Renotubular Syndrome 5	Genu valgum, Decreased DLCO, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenoc...	OMIM:618913
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo...	OMIM:614922
Cardiofaciocutaneous Syndrome	Anteverted nares, Depressed nasal bridge, Abnormal morphology of ulna, Submucous cleft hard palat...	ORPHA:1340
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, ...	ORPHA:1692
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Thin upper lip vermilion, Short neck, Prominent crus of helix, Kyphosis, Deep ph...	OMIM:619194
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short ...	ORPHA:96129
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Short neck, High,...	ORPHA:488632
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo...	ORPHA:740
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Micromelia, Downturned corners of mouth, Widely spaced...	ORPHA:199
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Cutis marmorata, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Dr...	OMIM:612938
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Micrognathia, Flexion contracture, Bifid uvula, Dislocated radial he...	OMIM:130070
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Sinusitis, Nasal polyposis, Recurrent intrapulmonary hemorrhage, Abnormal...	ORPHA:183
Fanconi Anemia, Complementation Group P	Absent thumb, Micrognathia, Short thumb, Bulbous nose, Hypoplasia of the radius	OMIM:613951
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory insufficiency ...	ORPHA:2905
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia	OMIM:607598
Bethlem Myopathy	Hypoventilation, Reduced maximal expiratory pressure, Lumbar hyperlordosis, Multiple joint contra...	ORPHA:610
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Depressed na...	ORPHA:647
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne...	ORPHA:1300
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Diamond-Blackfan Anemia 6	Cleft upper lip, Micrognathia, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re...	OMIM:612561
Autosomal Dominant Robinow Syndrome	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema	ORPHA:70578
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Abnormal rib morphology, Small hand, Retrognathia, Short foot, Spina bifi...	ORPHA:488434
Scarf Syndrome	Craniosynostosis, Short neck, Hepatocellular adenoma, Abnormal form of the vertebral bodies, Join...	ORPHA:3134
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Anosmia, Osteoporosis, Cleft palate, Genu valgum	OMIM:614880
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Palmoplantar hyperkeratos...	OMIM:158350
Fetal Trimethadione Syndrome	Ventricular septal defect, Brachycephaly, Transposition of the great arteries, Atrial septal defe...	ORPHA:1913
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Hallux valgus, Dental crowding, Depr...	OMIM:614188
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Hyperactivity, Neonatal respiratory distr...	ORPHA:209905
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Micrognathia, Metatarsus adductus, Kyphosis, Py...	ORPHA:2461
Primrose Syndrome	Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de...	OMIM:259050
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ...	OMIM:608670
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Shoulder dislocation, Microdontia, Dislocated radial head, Microretrogn...	OMIM:245600
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Hepatocel...	ORPHA:562
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig...	OMIM:123500
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Cyanosis, Short lingual frenulum, Partial anosmia, Total anosmia, Midgut malrotation,...	ORPHA:2326
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the...	ORPHA:313855
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Thin vermilion border, Hypoplasia o...	OMIM:614800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac...	OMIM:607155
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly, Clinodactyly of the 5th finger, Broad columell...	ORPHA:2710
Restrictive Dermopathy 1	Natal tooth, Prominent superficial blood vessels, Limb joint contracture, Rocker bottom foot, Kyp...	OMIM:275210
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Smooth philtrum, Recurrent respiratory infections, Respiratory distress, Depressed ...	OMIM:300968
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Dysphagia	ORPHA:70472
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Depr...	OMIM:607597
Branchiogenic-Deafness Syndrome	Abnormal foot morphology, Trismus, Submucous cleft hard palate, Short distal phalanx of finger	OMIM:609166
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Osteoporosis, Hip dis...	OMIM:616507
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Joint laxity, Anal stenosis, Sagittal craniosynostosis, Bowing of the legs...	OMIM:617063
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,...	OMIM:616738
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Micromelia, Short neck, Long philtrum, Adducted thumb	ORPHA:50810
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Abnormality of the hand, Atelectasis, Sh...	ORPHA:333
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum,...	ORPHA:500150
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Esophageal atresia, Hypoplasia of the radius, Hip dislocatio...	ORPHA:3412
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93260
Acromelic Frontonasal Dysplasia	Median cleft lip, Upper airway obstruction, Patellar hypoplasia, Wide mouth, Talipes equinovarus,...	ORPHA:1827
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Micrognathia, Aglossia, Cleft palate, Pulmonary hypoplasia, Narr...	OMIM:202650
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ...	OMIM:256520
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Flexio...	OMIM:300868
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth...	ORPHA:420741
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S...	ORPHA:457279
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Dysphagia, Aggressive behavior, Genu valgum	ORPHA:488627
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly...	OMIM:614437
Distal Duplication 17Q	Joint laxity, Thin upper lip vermilion, Hallux valgus, Hyperactivity, Depressed nasal bridge, Ara...	ORPHA:3379
Gm1 Gangliosidosis Type 1	Spatulate ribs, Gingival overgrowth, Hypoplastic vertebral bodies, Macroglossia, Flared iliac win...	ORPHA:79255
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,...	OMIM:610829
Bloom Syndrome	Pneumonia, Stomach cancer, Micrognathia, Esophageal neoplasm, Bronchitis, Respiratory tract infec...	ORPHA:125
Dent Disease	Enlarged epiphyses, Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fra...	ORPHA:1652
Cdags Syndrome	Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, S...	OMIM:603116
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosi...	ORPHA:1724
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Ectrodactyly...	OMIM:147950
Diamond-Blackfan Anemia 1	11 pairs of ribs, Cleft upper lip, Micrognathia, Short thumb, Absent thumb, Hypoplastic ilia, Dep...	OMIM:105650
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Polydipsia, Cyanosis, Anteverted nares, Depressed nasal bridge, Central hypovent...	ORPHA:293987
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Genera...	OMIM:619472
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Advanced eruption of teeth, Fi...	ORPHA:818
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Mandibular prognathia, Abno...	ORPHA:98915
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Depressed nasal bridge, Overlapping toe, Protruding ...	ORPHA:99843
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Aplasia/Hypoplas...	ORPHA:2911
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin...	ORPHA:364577
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe...	ORPHA:782
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Respiratory failure	ORPHA:363400
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Generalized joint l...	ORPHA:357074
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnor...	ORPHA:2363
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Hyperactivity, Dental crowdin...	ORPHA:261323
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Prom...	OMIM:305450
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil...	ORPHA:314655
Prader-Willi Syndrome	Osteopenia, Syndactyly, Hypoventilation, Thin upper lip vermilion, Carious teeth, Kyphosis, Acrom...	OMIM:176270
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal	OMIM:609053
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ...	OMIM:612863
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Brachycephaly, Intrauterine growth retardation, Coronal craniosyn...	ORPHA:228390
Costello Syndrome	Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Limited elbow ...	OMIM:218040
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short neck, Missing ribs, Esophageal atresia, Tracheoesophageal fistula, Lumbar hemivertebrae, Ne...	OMIM:619859
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega...	OMIM:614749
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis...	OMIM:604292
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Short philtru...	OMIM:601499
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M...	OMIM:105830
Fanconi Anemia, Complementation Group F	Pneumonia, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Duodenal a...	OMIM:603467
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Anosmia, Bronchiectasis, Immotil...	OMIM:244400
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Orofaciodigital Syndrome V	Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol...	OMIM:174300
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, U...	ORPHA:1101
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Asthma, Small hand, Fibular hypoplasia,...	ORPHA:444077
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ...	ORPHA:250999
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip...	ORPHA:79404
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Hamartom...	ORPHA:251992
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Epistaxis, Wheezing, Jaundice, Rickets, Fat malabsorption	OMIM:211600
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Orof...	OMIM:615630
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Short neck, Micrognathia, Hypoxemia, Submucous cleft soft palate, Pulmonary ar...	ORPHA:2282
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Depressed nasal bridge, Wide anterior fontanel, Dyspnea, Cardiorespiratory arre...	ORPHA:26791
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis, Clubbing	ORPHA:439
Breath-Holding Spells	Cyanosis	OMIM:607578
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High...	OMIM:220110
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the t...	ORPHA:1790
Schisis Association	Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia	ORPHA:63862
Geleophysic Dysplasia 1	Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Wide mo...	OMIM:231050
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ...	ORPHA:319675
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Pes planus, Apnea, Kyphosis, Stridor, Scoliosis, Dysphagia, Arthrogryposis multi...	OMIM:617143
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy...	OMIM:261540
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec...	ORPHA:955
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Toe syndactyly, Bulbous nose, Hypoplasia of the radius, Pulmonary arter...	ORPHA:140952
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Pedal edema, Respiratory failure, Paroxysmal dyspnea, Pulmo...	ORPHA:563
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly	OMIM:600092
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip disloca...	ORPHA:2962
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Ablepharon Macrostomia Syndrome	Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped...	ORPHA:920
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Epistaxis, Abnormal humerus morphol...	ORPHA:464329
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Congenital hip dislocation, Single transverse palmar crease...	ORPHA:508488
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Pes planus, Dental crowding, Kyphoscoliosis, Kyphosis, High, narrow ...	OMIM:300967
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnor...	OMIM:620233
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Kyphosi...	OMIM:211530
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux, Apnea	ORPHA:1949
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility	ORPHA:3226
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr...	ORPHA:2059
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Apn...	OMIM:619503
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Open bite, Abnorma...	OMIM:115150
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Congenital Myopathy 3 With Rigid Spine	Reduced vital capacity, Spinal rigidity, Flexion contracture, Restrictive ventilatory defect, Hig...	OMIM:602771
Cranioectodermal Dysplasia 2	Short neck, Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, Mi...	OMIM:613610
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Esophag...	ORPHA:93271
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Hypoplastic pulmonary veins, Cleft palate, ...	OMIM:618021
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Vertebral clefting, Submucous cleft hard palate, Cleft palate, Ga...	OMIM:301043
Spinocerebellar Ataxia Type 1	Respiratory failure, Dysphagia	ORPHA:98755
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Short neck, Micrognathia, Short thumb, Limit...	OMIM:618821
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Generalized osteosclerosis,...	OMIM:602398
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Abnormal rib morphology, R...	ORPHA:93317
Neonatal Marfan Syndrome	Long toe, Neonatal respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Long ...	ORPHA:284979
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Erythema, Limitation of joint mobility, Urti...	ORPHA:343
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia	ORPHA:391428
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa m...	OMIM:305100
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis, Joint stiffness	ORPHA:2400
Hypercholanemia, Familial 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607748
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Rectal prolapse, Osteoarthritis, Generali...	ORPHA:287
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Kyphosis, Posterio...	ORPHA:1393
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,...	ORPHA:363611
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Dow...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Dow...	ORPHA:352665
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneous syndact...	OMIM:270400
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Fucosidosis	Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocyanosis, Vascu...	ORPHA:349
C Syndrome	Death in infancy, Sacral dimple, Toe syndactyly, Talipes, Micromelia, Short neck, Micrognathia, A...	ORPHA:1308
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Hypoventilation, Tongue atrophy, Pes planus, Abnormal foot morpho...	ORPHA:99949
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Cleft soft palate, Tapered finger, Abnormal toe morphology, Kyphosi...	ORPHA:268261
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulum, Aplastic clavicle, Postaxia...	OMIM:616546
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal l...	ORPHA:264450
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Mitochondrial Trifunctional Protein Deficiency	Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Respiratory insufficiency, R...	ORPHA:746
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide m...	OMIM:201180
Joubert Syndrome 21	Apnea, Dyspnea, Single naris, Respiratory failure, Short ribs, Pulmonary hypoplasia, Dysphagia, C...	OMIM:615636
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Talipes, Submucous cleft hard palate, Bifid uvula, Butterfly vertebrae	OMIM:617660
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Dysphagia	OMIM:620166
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Growth delay, Atrial septal defec...	OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,...	OMIM:618106
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Intestinal malrotation, Tachypnea, Rickets, Esophageal varix, Abnormal ...	OMIM:613658
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl...	OMIM:617666
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea...	ORPHA:95699
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Abnormal lung mor...	ORPHA:141127
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip disloca...	ORPHA:2834
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Overlapping toe, Cyanosis	OMIM:617478
Sarcoidosis, Susceptibility To, 1	Anorexia, Dyspnea, Bone cyst, Clubbing, Emphysema, Bronchiectasis, Abnormal pulmonary interstitia...	OMIM:181000
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Gastrointestinal dysmotility, J...	ORPHA:90051
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Cyanosi...	OMIM:306955
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r...	OMIM:618188
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Pes planus, Cleft soft palate, Kyphoscoliosis, Atlantoaxial instability, Talipes equi...	OMIM:614557
Hypermobile Ehlers-Danlos Syndrome	Pes planus, Apnea, Malabsorption, Abnormality of the dentition, Abnormal foot morphology, Gastroi...	ORPHA:285
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Narrow greater sciatic notch, Gastroesophageal reflux,...	ORPHA:79328
Boutonneuse Fever	Abnormality of the plantar skin of foot, Abnormal skin morphology of the palm, Respiratory failure	ORPHA:83313
Scarf Syndrome	Short neck, Abnormal form of the vertebral bodies, Coronal craniosynostosis, Short sternum, Lambd...	OMIM:312830
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Abnormal repet...	OMIM:301044
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Short philtrum, Arachnodactyly, Abnormal dental enamel morp...	ORPHA:567
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Distal Deletion 15Q	Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, Abnormality of the denti...	ORPHA:1596
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Diamond-Blackfan Anemia	Cleft soft palate, Short neck, Absent thumb, Short thumb, Partial duplication of thumb phalanx, M...	ORPHA:124
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Sacral dimple, Pes planus, Micrognathia, Carious teeth, Ve...	OMIM:223370
Cap Myopathy	Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Central hypoventilation, High palate, Pes v...	ORPHA:171881
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Cyanosis, Hypoxemia	ORPHA:464453
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Hypoplasia of the sm...	OMIM:200995
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial...	OMIM:617088
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, High palate, Overlapping finger...	ORPHA:79330
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted...	OMIM:614609
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Sinusitis, Sandal gap, Choanal atresia, Recurrent bro...	OMIM:251260
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout...	OMIM:619680
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Doors Syndrome	Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Downturned corners of m...	ORPHA:79500
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return	ORPHA:860
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym...	OMIM:616843
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry, Abnormal pulmonary valve morphology, Pulmonic stenosis	ORPHA:137634
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor, Dysphagia	OMIM:207950
Bile Acid Synthesis Defect, Congenital, 1	Jaundice, Rickets, Acholic stools, Steatorrhea, Fat malabsorption	OMIM:607765
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Kyphosis, Hip dislocation, Rickets, Genu valgum, Finger sw...	OMIM:309000
Hardikar Syndrome	Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, ...	OMIM:301068
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Clinodactyly, Limb undergrowth, Tooth malposi...	OMIM:616541
Alg12-Cdg	Thin upper lip vermilion, Sandal gap, Intestinal malrotation, Proximal placement of thumb, Microg...	ORPHA:79324
Fryns Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Promine...	OMIM:229850
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Marfan Syndrome	Osteopenia, Pulmonary artery dilatation, Arthralgia/arthritis, Dental crowding, Arachnodactyly, L...	ORPHA:558
Velocardiofacial Syndrome	Abnormality of the hand, Underdeveloped nasal alae, Aggressive behavior, Velopharyngeal insuffici...	OMIM:192430
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Dysphagia, Death in childhood	OMIM:619847
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,...	OMIM:130050
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Pentalogy Of Cantrell	Non-midline cleft lip, Split hand, Abnormal tibia morphology, Cleft palate, Orofacial cleft, Apla...	ORPHA:1335
Ethylene Glycol Poisoning	Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pa...	ORPHA:31826
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure, Osteopetrosis	ORPHA:3240
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Clef...	OMIM:301091
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Polydipsia, Spontaneous pneumothorax, Micrognathia, Jaundice, Recurrent pneumoni...	ORPHA:731
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, Mesomelia, High palate, Na...	OMIM:613457
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Facial erythema	OMIM:618307
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Nocardiosis	Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ...	ORPHA:31204
S-Adenosylhomocysteine Hydrolase Deficiency	Pes planus, Respiratory failure, Abnormality of the dentition	ORPHA:88618
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Postaxial hand polydactyly, A...	ORPHA:2166
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Micrognathia, Rectal fistula, Absent radius, Rectal atresi...	OMIM:115470
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Rickets, Steatorrhea, Prolonged neonatal jaundice, Fat malabsorption	ORPHA:79303
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Absent thumb, Esophageal atresia, Absent radius, Tracheoesophag...	OMIM:614083
Poliomyelitis	Respiratory failure requiring assisted ventilation, Stiff neck, Anorexia, Paralytic ileus, Respir...	ORPHA:2912
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f...	ORPHA:1449
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Prominent na...	ORPHA:2673
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Wide mouth, Unilat...	OMIM:619103
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Buerger Disease	Acrocyanosis	ORPHA:36258
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness, Ankle clonus	ORPHA:206436
Celiac Disease, Susceptibility To, 1	Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En...	OMIM:212750
Malignant Atrophic Papulosis	Intestinal fistula, Telangiectasia of the skin, Intestinal perforation, Respiratory failure, Pleu...	ORPHA:679
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, High palate, Short philtrum, Clinodactyly of the...	OMIM:135900
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypogeusia, Decreased sensitivity to hypoxemia, Gastroesophageal reflux, Scoliosis, Acrocyanosis	OMIM:223900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o...	OMIM:619321
Tetrasomy 9P	Dental crowding, Micrognathia, Downturned corners of mouth, Inappropriate behavior, High palate, ...	ORPHA:3310
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p...	ORPHA:1329
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Osteoporosis, Rickets, Death in childhood	OMIM:560000
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Natal tooth, Multiple joint contractures, Aplasia/Hypoplasia...	ORPHA:1662
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, H...	OMIM:312870
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Limb joint contracture	OMIM:620327
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Peters Plus Syndrome	Micromelia, Micrognathia, Abnormal pulmonary vein morphology, Widely spaced teeth, Clinodactyly o...	ORPHA:709
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Relapsing Polychondritis	Chondritis of pinna, Atelectasis, Dyspnea, Limitation of joint mobility, Erythema, Anteriorly pla...	ORPHA:728
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture	OMIM:617239
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Bifid uvul...	OMIM:607872
Aicardi-Goutieres Syndrome 1	Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at...	OMIM:615709
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of...	OMIM:164210
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Anorexia, Malabsorption, ...	ORPHA:324
Marfan Syndrome	Pulmonary artery dilatation, Reduced subcutaneous adipose tissue, Dental crowding, Arachnodactyly...	OMIM:154700
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Camptodactyly of finger, Micrognathia, Prominent nose, Long nos...	ORPHA:3047
Lujo Hemorrhagic Fever	Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Dysphagia...	ORPHA:319213
Histiocytoid Cardiomyopathy	Cyanosis, Tachypnea, Cleft palate, Cough, Pulmonary edema	ORPHA:137675
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Ecchy...	ORPHA:340
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn...	ORPHA:980
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio...	ORPHA:805
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Craniorachischisis	Bifid sternum, Anal atresia, Sirenomelia	ORPHA:63260
Pallister-Hall Syndrome	Depressed nasal ridge, Abnormal lung lobation, Bifid uvula, Paroxysmal bursts of laughter, Micror...	ORPHA:672
Cystinosis	Rickets, Malabsorption	ORPHA:213
Tetraamelia Syndrome 1	Choanal atresia, Cleft upper lip, Micrognathia, Single naris, Peripheral pulmonary vessel aplasia...	OMIM:273395
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Emphysema, Arachnodactyly	OMIM:219100
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Wide nose, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Erythe...	ORPHA:2556
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion, Pulmonary edema	OMIM:261740
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Esophageal atresia, ...	OMIM:192350
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Leigh Syndrome	Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration, Dysphagia	ORPHA:506
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Familial Dysautonomia	Recurrent fractures, Osteolysis, Gastroesophageal reflux, Scoliosis, Acrocyanosis	ORPHA:1764
Coffin-Siris Syndrome 12	Joint laxity, Micrognathia, Celiac disease, Short thumb, Slender finger, Velopharyngeal insuffici...	OMIM:619325
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Calcaneo...	ORPHA:2152
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Charge Syndrome	Delayed eruption of teeth, Talipes, Cleft upper lip, Abnormal soft palate morphology, Narrow mout...	ORPHA:138
Neuroocular Syndrome	Hyperextensibility of the finger joints, Sacral dimple, Pes planus, Genu recurvatum, Tapered fing...	OMIM:619539
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Micrognathia, Retinal telangiectasia, Tracheomalacia, Mal...	OMIM:620155
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Cyanosis, Calcification of the auricular cartilage...	ORPHA:51608
Listeriosis	Respiratory distress, Stiff neck, Miscarriage, Pneumonia, Osteomyelitis, Jaundice, Respiratory fa...	ORPHA:533
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fascicu...	OMIM:252010
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Abetalipoproteinemia	Osteopenia, Respiratory failure, Talipes equinovarus, Steatorrhea, Fat malabsorption	ORPHA:14
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyly, Talipes equi...	OMIM:217100
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar...	ORPHA:99050
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Gastrointestinal stroma tumor, Eryt...	ORPHA:221
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Breathing dysregulation	OMIM:618232
Niemann-Pick Disease Type C	Aggressive behavior, Abnormal lung morphology, Jaundice, Dysphagia, Respiratory insufficiency, Re...	ORPHA:646
Tolchin-Le Caignec Syndrome	Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl...	OMIM:618971
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven...	OMIM:233450
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo...	ORPHA:273
Eosinophilic Fasciitis	Arthritis, Acrocyanosis	ORPHA:3165
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation, Death in infancy, Elbow contracture, Knee contracture, Gastroesophageal reflux	OMIM:620275
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261552
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Flat...	OMIM:610828
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis	ORPHA:268943
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary...	OMIM:212093
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Structural foot defor...	ORPHA:464306
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis, Tachypnea, Orofacial cleft	ORPHA:3427
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r...	OMIM:616749
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Limb joint contracture, Coxa valga,...	ORPHA:404454
Zygomycosis	Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Enterocolitis, Nasal cong...	ORPHA:73263
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U...	ORPHA:100050
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Cutis marmorata, Short lower limbs, Bowing of the legs	OMIM:219250
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Aort...	ORPHA:97214
Digeorge Syndrome	Micrognathia, High, narrow palate, Atelectasis, Recurrent pneumonia, Chronic pulmonary obstructio...	OMIM:188400
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect...	OMIM:123700
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta...	OMIM:119500
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Pyloric stenosis, Wide anterior fontanel, Pneumothorax, Hip dislocation, Recurrent ...	ORPHA:90349
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Rickets, Osteomalacia, Malabsorption	OMIM:227810
Primary Hyperoxaluria	Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, R...	ORPHA:416
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Small intestinal dysmotility, Kyphosis, Dysphagia, Hypopnea, Restrictive ...	OMIM:619482
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Myasthenia Gravis	Dyspnea, Acrocyanosis, Rheumatoid arthritis, Dysphagia	ORPHA:589
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Premature graying of hair, Emphysema, Pulmonary fibrosis	OMIM:620365
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ...	OMIM:157170
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Aganglionic megacolon, Hypoxemia, N...	OMIM:209880
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Wilson Disease	Osteomalacia, Hepatocellular carcinoma, Jaundice, Osteoarthritis, Esophageal varix, Osteoporosis,...	OMIM:277900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Prematurely aged appearance, Hip dislocation, Bronchiectasis, Premature...	ORPHA:90348
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti...	OMIM:180500
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Hypoventilation, Joint laxity, Apnea, Breathing dysregulation, Deep philtrum, Osteopo...	ORPHA:438213
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Postpoliomyelitis Syndrome	Hypoventilation, Respiratory insufficiency, Dysphagia	ORPHA:2942
Perry Syndrome	Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency	OMIM:168605
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Colitis, Steatorrhea	ORPHA:309031
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Bowing of the legs, Gastrointestinal stroma tumor, Kyphos...	ORPHA:97685
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Rickets, Genu valgum, Dysphagia, Hypophosphatemi...	OMIM:219800
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Gastrointestinal stroma tumor,...	ORPHA:1572
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Pneumonia, Gastritis, Osteomalacia, Bronchiectasi...	OMIM:619381
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Arthritis, Vasculitis in the skin, Acrocy...	ORPHA:48435
Granulomatous Disease, Chronic, X-Linked	Osteomyelitis, Atelectasis, Recurrent pneumonia, Rectal abscess, Cough, Pleural effusion	OMIM:306400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Wide nose, Depressed nasal bridge, Tarsal synostosis, Craniosynostosis, Choanal atresia, Arachnod...	OMIM:201750
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Flexion contracture, Ankle clonus, Talipes valgus, Pes cavus	OMIM:618891
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Peptic ulcer	OMIM:600740
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Aicardi-Goutières Syndrome	Multiple joint contractures, Cutis marmorata, Arthritis, Scoliosis, Prolonged neonatal jaundice, ...	ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Distal Renal Tubular Acidosis	Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density	ORPHA:18
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Cranial asymmetry, Short stature	OMIM:163200
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Jaundice, Osteoporosis, Scoliosis, Tracheomalacia	OMIM:203700
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata	OMIM:259900
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri...	ORPHA:2396
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Peptic ulcer	ORPHA:405
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694

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 Pkdcc

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 Pkdcc.

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

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MGI Allele	Allele Type	Produced
Pkdcc^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Pkdcc^{tm92111(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Pkdcc MGI:2147077

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E14.5-E15.5

Gross Morphology Embryo E9.5

Gross Morphology Embryo E18.5

X-ray

Human diseases caused by Pkdcc mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data