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Gene: Ltbp3 MGI:1101355

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

latent transforming growth factor beta binding protein 3

Synonyms:

Ltbp2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ltbp3 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 Ltbp3 (3 diseases)
Human diseases predicted to be associated with Ltbp3 (2265 diseases)

The table below shows human diseases associated to Ltbp3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Wide...	OMIM:601216
Acromicric Dysplasia	Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Joint stiffness...	ORPHA:969
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Pneumonia...	OMIM:617809

The table below shows human diseases predicted to be associated to Ltbp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate...	OMIM:618363
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Pr...	OMIM:234250
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Turricephaly, Severe short stat...	OMIM:203550
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Frontal bossing, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridg...	OMIM:165800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Pierre-Robin ...	OMIM:184840
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Membranous Cranial Ossification, Delayed	Depressed nasal bridge, Downslanted palpebral fissures, Hypertelorism	OMIM:155980
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff...	OMIM:132400
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short stature, Hip osteoarthritis, Joint hyperflexibility, Hip dysplas...	ORPHA:63442
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Depr...	ORPHA:61
Familial Intestinal Malrotation	Long palpebral fissure, Depressed nasal bridge, Anteverted nares, Hypertelorism	ORPHA:508410
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Larsen-Like Syndrome	Joint dislocation, Frontal bossing, Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fo...	OMIM:608545
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Short s...	OMIM:122860
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Severe short stature, Protrusio acetabuli, Abnormal ...	ORPHA:2619
Vitamin D-Dependent Rickets, Type 2A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,...	OMIM:277440
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Osteopenia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va...	OMIM:269300
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Albers-Schönberg Osteopetrosis	Joint dislocation, Frontal bossing, Osteomyelitis, Short stature, Recurrent fractures, Abnormalit...	ORPHA:53
Bifid Nose	Bifid nose, Hypertelorism	ORPHA:2695
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Wormian bones, Protrusio acetabuli, Severe generalized osteoporosis, Micrognathi...	OMIM:259420
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti...	OMIM:155050
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short neck, S...	OMIM:612463
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo...	OMIM:614727
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Frontal bossing, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, ...	OMIM:600204
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Brachycephaly, Abnormal form of the vertebral bodies, Downturned corners o...	ORPHA:1327
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp...	OMIM:608940
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,...	OMIM:264700
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo...	ORPHA:85198
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A...	ORPHA:90653
Three M Syndrome 1	Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of...	OMIM:273750
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, Thoracic kyphosis, High pal...	ORPHA:163649
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Three M Syndrome 2	Short neck, High palate, Intrauterine growth retardation, Long philtrum, Lumbar hyperlordosis, An...	OMIM:612921
Frank-Ter Haar Syndrome	Mandibular prognathia, Genu recurvatum, Short philtrum, Clinodactyly of the 5th finger, Premature...	ORPHA:137834
Mulibrey Nanism	Frontal bossing, Wide nose, Dental crowding, Depressed nasal bridge, Short stature, Absent fronta...	OMIM:253250
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Long nose, Oligodontia, Short palm, Pointed chin, Thick vermilion border, Scolio...	OMIM:619184
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Depressed ...	OMIM:613849
Frontofacionasal Dysplasia	Telecanthus, Cataract, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Hypertelorism, ...	ORPHA:1791
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent...	ORPHA:1858
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Genu valgum, Scoliosis	OMIM:168400
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Sever...	ORPHA:633
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m...	OMIM:156510
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Short...	ORPHA:93351
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Flat occiput, Abnormal finger morphology, Brachycephaly, Short palm, Large...	ORPHA:2511
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Craniosynostosis 3	Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ...	OMIM:615314
Acrodysostosis	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, Abnormal form ...	ORPHA:950
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Frontal bossing, Anteverted nares, Genu recurvatu...	OMIM:300602
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
Hypocalcemic Vitamin D-Dependent Rickets	Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Tibial bowing...	ORPHA:289157
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip...	ORPHA:93360
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Prominent nose...	ORPHA:2471
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Sho...	ORPHA:166272
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short stature, Prominent nasal bridge, Osteoporosis, Cone-shaped epiph...	ORPHA:71267
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,...	OMIM:600969
48,Xyyy Syndrome	Depressed nasal bridge, Acne, Short neck, Thick lower lip vermilion, Recurrent upper respiratory ...	ORPHA:99329
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac...	OMIM:610967
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thickened calvaria, Micrognathia, Hypoplasia of the maxilla, Prominent nos...	ORPHA:439822
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Frontal bossing, Anteverted nares, Abnormal dental enamel morph...	ORPHA:1515
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of...	ORPHA:429
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Telecanthus, Cleft ala nasi, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Convex ...	ORPHA:2007
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Prominen...	OMIM:210600
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depress...	OMIM:108300
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Frontal bossing, Short stature, Osteomalacia, Bowing of the legs, O...	OMIM:307800
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t...	ORPHA:2501
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Short neck, Hypoplasia of the maxilla, Brachycephaly, Increa...	ORPHA:1798
Odontochondrodysplasia 1	Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Sho...	OMIM:184260
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars...	OMIM:614613
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Broad nasal tip, Achi...	OMIM:619719
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Upper limb spas...	OMIM:611225
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m...	ORPHA:3416
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Cone-shaped epiphyses o...	OMIM:602849
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Thick nasal alae, Depressed nasal bridge, Short stature, Hyperlordosis, Ab...	ORPHA:557003
Blepharophimosis-Impaired Intellectual Development Syndrome	Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdo...	OMIM:619293
Trismus-Pseudocamptodactyly Syndrome	Mandibular prognathia, Short stature, Limitation of joint mobility, Hip dislocation, Symphalangis...	ORPHA:3377
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,...	ORPHA:3079
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Abnormality of the dentition, High pa...	ORPHA:217340
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Anteverted nares, Tapered finger, Long fingers, Dental malocclusion, High ...	OMIM:618292
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Metaphyseal widening, Flexion contracture, Short metatarsal, Cox...	ORPHA:93307
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Platy...	OMIM:259440
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Reduced bone mineral density, Hernia, Anteverted nares, Abnormal d...	ORPHA:582
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
3M Syndrome	Congenital hip dislocation, Short neck, Increased vertebral height, Clinodactyly of the 5th finge...	ORPHA:2616
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v...	OMIM:604864
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short neck, S...	OMIM:103580
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof...	OMIM:616331
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Rhizomelic Syndrome, Urbach Type	Micrognathia, Short neck, Abnormal form of the vertebral bodies, High palate, Triphalangeal thumb...	ORPHA:3098
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen...	ORPHA:49042
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Convex nasal ridge, Short stature, Micrognathia, Carious teeth, Promine...	OMIM:613684
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density,...	ORPHA:2370
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis mo...	ORPHA:2643
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Leukodystrophy, Hypomyelinating, 17	Mandibular prognathia, Anteverted nares, Kyphoscoliosis, Flexion contracture, Gingival overgrowth...	OMIM:618006
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi...	OMIM:614078
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot...	ORPHA:166277
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Short stature, Kyphoscoliosis, Prominent nose, Dental malocclusion	OMIM:615541
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Downslanted palpebral fissures, Iris coloboma, Hypertelorism	OMIM:155145
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Seckel Syndrome 5	11 pairs of ribs, Short stature, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, ...	OMIM:613823
Trigonocephaly 2	Depressed nasal bridge, Downslanted palpebral fissures, Wide nasal bridge, Hypertelorism	OMIM:614485
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Brachycephaly, Clinodactyly of the 5th finger, Prominent fingertip pads, T...	OMIM:619721
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate, Dolichocepha...	ORPHA:168624
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion...	OMIM:618618
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent...	ORPHA:2180
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, Frontal bossing, Osteopenia, Recurrent fractures, Postnatal growth retarda...	ORPHA:2324
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Osteopenia, Sandal gap, Dental crowding, Anteverted n...	OMIM:617877
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Brachycephaly, ...	OMIM:249420
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of...	OMIM:257850
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p...	OMIM:301014
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ...	OMIM:182212
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Kahrizi Syndrome	Bulbous nose, Cataract, Iris coloboma, Wide nasal bridge	OMIM:612713
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Short stature, Short neck, Large for gestational age,...	ORPHA:2563
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow...	OMIM:156530
Pai Syndrome	Telecanthus, Nasal polyposis, Depressed nasal bridge, Hypertelorism, Midline defect of the nose, ...	ORPHA:1993
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Flat occiput, Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Generali...	ORPHA:251028
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Frontal bossing, Depressed nasal bridge, Sclerotic scapulae, 2...	OMIM:269500
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the dentition, Abnormality of the wrist, Keratitis, Osteoarthri...	ORPHA:1657
Atelosteogenesis, Type Iii	Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Short neck, Tibial bowing, Knee dislo...	OMIM:108721
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric...	ORPHA:2050
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Malar f...	ORPHA:166100
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb...	OMIM:607095
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Cole-Carpenter Syndrome 2	Microretrognathia, Frontal bossing, Turricephaly, Osteopenia, Wide cranial sutures, Recurrent fra...	OMIM:616294
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Small for gestational age, Short stature, Micrognathia, D...	OMIM:610883
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Dental Ankylosis	Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro...	ORPHA:1077
Primary Condylar Hyperplasia	Abnormality of the temporomandibular joint, Macrodontia, Abnormal mandible condylar process morph...	ORPHA:477781
Filippi Syndrome	Underdeveloped nasal alae, 2-4 toe syndactyly, Postnatal growth retardation, Low hanging columell...	OMIM:272440
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Short neck, Micrognathia, Cleft palate...	ORPHA:2015
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted l...	ORPHA:2429
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Dep...	ORPHA:2831
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Raine Syndrome	Mandibular prognathia, Micrognathia, Short neck, Brachycephaly, High palate, Choanal stenosis, Mi...	OMIM:259775
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduce...	OMIM:166220
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,...	OMIM:601680
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact...	OMIM:210720
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Chin with H-shaped crease,...	OMIM:193700
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Diastrophic Dysplasia	Joint dislocation, Proximal placement of thumb, Micrognathia, Symphalangism affecting the phalang...	ORPHA:628
Geroderma Osteodysplastica	Mandibular prognathia, Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Hi...	ORPHA:2078
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs...	ORPHA:88630
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Non-Distal Duplication 10Q	Frontal bossing, Depressed nasal bridge, Short stature, Micrognathia, Brachycephaly, Joint hyperf...	ORPHA:1695
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Narrow nasal bridge...	ORPHA:3082
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Short stature, Pr...	ORPHA:2107
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short neck, S...	OMIM:612462
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognat...	ORPHA:166108
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Short stature, Wide anterio...	OMIM:607812
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Harrod Syndrome	Arachnodactyly, Long nose, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyp...	ORPHA:2115
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Temtamy Syndrome	Telecanthus, Convex nasal ridge, Hypertelorism, Chorioretinal coloboma, Iris coloboma	ORPHA:1777
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Osteolys...	ORPHA:2776
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Epicanthus, Depressed nasal bridge, Hypertelorism	OMIM:616911
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Wide...	OMIM:601216
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar...	OMIM:259600
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Short neck, Diastema, Underdeveloped nasal alae, Dental malocclusion...	ORPHA:436245
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short neck, Short metatarsal, Short phalanx of finger, Short metacarpal, S...	OMIM:615222
Cat-Eye Syndrome	Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma, Hypertelorism	ORPHA:195
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Long philtrum...	ORPHA:391408
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Pycnodysostosis	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Prominent nose, Increa...	OMIM:265800
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Anteverted nares, Hyperlordosis, Pierre-Robin sequence, Small hand,...	OMIM:619980
Osteoglosphonic Dysplasia	Inguinal hernia, Severe short stature, Failure to thrive in infancy, Anteverted nares, Craniosyno...	ORPHA:2645
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Kyphosco...	ORPHA:2980
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Terminal Osseous Dysplasia	Epicanthus, Telecanthus, Hypertelorism, Depressed nasal tip, Upslanted palpebral fissure, Iris co...	OMIM:300244
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Short stature, Prema...	OMIM:105835
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Prominent ...	OMIM:216550
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Prominent nose, Wide nasal bridge, Narrow palate, Dolichocephaly, Brachyda...	OMIM:617169
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Convex nasal ridge, Micrognathia, Abn...	ORPHA:666
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,...	OMIM:218400
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma, Ptosis	OMIM:300915
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o...	OMIM:600002
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Abnormal metatarsa...	ORPHA:85408
Snijders Blok-Campeau Syndrome	Joint laxity, Frontal bossing, Inguinal hernia, Prominent nose, Wide nasal bridge, Taurodontia, H...	OMIM:618205
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Lacrimal duct atresia, Iris coloboma	ORPHA:139450
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures...	OMIM:610968
Ck Syndrome	Dental crowding, Slender build, Prominent nasal bridge, Hyperlordosis, Micrognathia, Kyphosis, Hi...	OMIM:300831
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Thick upper ...	ORPHA:560
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, S...	OMIM:600373
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Obesity, Short foot, Short 5th finger, High palate, Cubitus valgus, Clin...	OMIM:300577
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Short nose, Unilambdoid synostosis,...	OMIM:618577
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Short stature, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Fla...	OMIM:271600
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Frontal bossing, Arachnodactyly, Carious teeth, Hemivert...	ORPHA:377
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill...	OMIM:608154
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Proportionate short stature	ORPHA:93283
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Abnormal form of ...	ORPHA:819
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu...	ORPHA:329178
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Osteogenesis Imperfecta, Type Xiii	Femoral bowing, Reduced bone mineral density, Decreased body weight, Dentinogenesis imperfecta, D...	OMIM:614856
Schaaf-Yang Syndrome	Mandibular prognathia, Frontal bossing, Abnormality of the philtrum, Rocker bottom foot, Failure ...	OMIM:615547
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormality of the vertebral column, Osteoarthritis, Abnormal pelvis bone morphology, Obesity	ORPHA:2206
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short neck, Delayed epiphyseal ossification, Deep philtrum, Dysplastic sacrum, Iliac crest serrat...	OMIM:613320
17Q11.2 Microduplication Syndrome	Short stature, Abnormal dental enamel morphology, Thin vermilion border, Bifid nose, Malar flatte...	ORPHA:139474
Permanent Molars, Secondary Retention Of	Clinodactyly of the 5th finger, Mandibular prognathia, Abnormality of the dentition	OMIM:157950
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperl...	ORPHA:40
Short Syndrome	Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Joint laxity, Absence of subcutane...	OMIM:269880
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu...	ORPHA:1782
Anophthalmia Plus Syndrome	Choanal atresia, Hypertelorism, Abnormal nasal morphology, Eyelid coloboma, Blepharophimosis, Iri...	ORPHA:1104
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Pierpont Syndrome	Short neck, Brachycephaly, Widely spaced teeth, Short palm, Prominent fingertip pads, Short statu...	OMIM:602342
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Arthritis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Cat-Eye Syndrome (Type I)	Downslanted palpebral fissures, Iris coloboma	DECIPHER:42
Sclerosteosis 2	Mandibular prognathia, Frontal bossing, Cutaneous finger syndactyly, Short finger, Thickened calv...	OMIM:614305
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Inguinal hernia, Flexion contracture, Hip dysplasia, Scoliosis, Short nose, ...	OMIM:618379
Winchester Syndrome	Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,...	OMIM:277950
Scarf Syndrome	Inguinal hernia, Craniosynostosis, Short neck, Wide nasal base, Abnormal form of the vertebral bo...	ORPHA:3134
49,Xxxxy Syndrome	Mandibular prognathia, Short neck, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th ...	ORPHA:96264
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Melnick-Needles Syndrome	Micrognathia, Anisospondyly, Short stature, Abnormal rib morphology, Cone-shaped epiphyses of the...	ORPHA:2484
48,Xxxy Syndrome	Mandibular prognathia, Short neck, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th ...	ORPHA:96263
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Intellectual Developmental Disorder, Autosomal Recessive 61	Mandibular prognathia, Joint laxity, Tapered finger, Conical tooth, Long fingers, Prominent nose,...	OMIM:617773
Hamamy Syndrome	Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S...	OMIM:611174
Short Stature, Dauber-Argente Type	Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Short stature, Decreased fibular...	OMIM:619489
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos...	OMIM:614669
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Wide nose, Short stature, Prominent nasal bridge, Hyp...	ORPHA:50814
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Flat occiput, Abnormal dental enamel morph...	ORPHA:10
Progeroid Syndrome, Petty Type	Mandibular prognathia, Reduced subcutaneous adipose tissue, Lipoatrophy, Short stature, Wide ante...	ORPHA:2963
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short neck, Brachycephaly, Short ...	OMIM:212066
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Ptosis	ORPHA:1473
Achondrogenesis Type 1B	Frontal bossing, Severe short stature, Femoral hernia, Anteverted nares, Short neck, Micrognathia...	ORPHA:93298
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Kyphosis, Flexion contracture...	ORPHA:90322
Alg2-Cdg	Epicanthus, Cataract, Wide nasal bridge, Downslanted palpebral fissures, Iris coloboma	ORPHA:79326
Acromicric Dysplasia	Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Joint stiffness...	ORPHA:969
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Postnatal growth retardation, Thick lower lip vermilion, Brachycephaly, Wi...	OMIM:309545
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Mandibular prognathia, Micrognathia, Bulbous nose, Failure to thrive, Genu varum	OMIM:604317
Renpenning Syndrome	Mandibular prognathia, Severe short stature, Macrodontia, Cachexia, Prominent nose, Abnormal thum...	ORPHA:3242
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Achondrogenesis Type 1A	Multiple rib fractures, Frontal bossing, Severe short stature, Femoral hernia, Anteverted nares, ...	ORPHA:93299
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc...	ORPHA:2780
Fibrochondrogenesis 2	Frontal bossing, Anteverted nares, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widen...	OMIM:614524
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
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Turricephaly, Short stature, Short neck,...	ORPHA:710
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti...	ORPHA:79345
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Tricho-Dento-Osseous Syndrome	Frontal bossing, Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, En...	ORPHA:3352
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Conve...	ORPHA:1540
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal wi...	OMIM:612813
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r...	OMIM:313400
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossif...	OMIM:620269
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Scoliosis	ORPHA:640
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Unilateral ...	ORPHA:1919
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture, Thoracic kyphosis, Short stature	OMIM:270200
Oculodentodigital Dysplasia	Selective tooth agenesis, Uveitis, High palate, Joint contracture of the 5th finger, Microdontia,...	OMIM:164200
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micrognathia, Generalized joint laxity, Tibial bowing, Broad ribs...	OMIM:613848
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Short neck, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingiva...	ORPHA:1832
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Frontal bossing, Broad nasal tip, Scaphocephaly, Recurrent pneumonia, High...	OMIM:615637
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, Bilateral coxa valga, Bif...	OMIM:615582
Cenani-Lenz Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy...	ORPHA:3258
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Short neck, Thick lower lip vermilion, Dental maloccl...	OMIM:157980
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Severe ...	ORPHA:2635
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet...	OMIM:102500
Grant Syndrome	Joint dislocation, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Short statu...	ORPHA:2097
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Frontal bossing, Wide cranial sutures, Scaphocephaly, Dental malocclusi...	OMIM:619149
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Joint laxity, Sandal gap, Depressed nasal bridge, Short stature, Kyphosis,...	OMIM:300354
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Turricephaly, Severe short stature, Abnormal dental enamel morphology, Promine...	ORPHA:1005
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Oste...	OMIM:231070
Hypomelanosis Of Ito	Epicanthus, Cataract, Iris coloboma, Hypertelorism	OMIM:300337
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Recurrent skin infections, Broad nasal tip, Overweight,...	ORPHA:391372
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Short stature, Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Malar flattening	OMIM:616108
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short neck, Clinodactyly, Brachycephaly, Downturned corners of mouth, High...	ORPHA:369891
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Frontal bossing, Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Short stature, Craniosynostosis, Micrognathia, Split hand, Abnor...	ORPHA:2145
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm...	ORPHA:93311
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Aarskog-Scott Syndrome	Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly...	ORPHA:915
Intellectual Developmental Disorder, Autosomal Dominant 26	Prominent nasal tip, Inguinal hernia, Small for gestational age, Anteverted nares, Depressed nasa...	OMIM:615834
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Tapered finger, Small hand, Brachycephaly, Depressed nas...	OMIM:618672
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Mandibular prognathia, Joint laxity, Arachnodactyly, Glomerulonephritis, Thoracic kyphosis, High ...	ORPHA:2172
Schwartz-Jampel Syndrome	Micrognathia, Short neck, Coxa vara, High palate, Decreased body weight, Wrist flexion contractur...	ORPHA:800
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Frontal bossing, Sacral dimple, Tented upper lip vermilion, Joint laxity, ...	OMIM:615828
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Mandibular prognathia, Scaphocephaly, Genu valgum, Patellar subluxation, Dolichocephaly, Pointed ...	OMIM:248000
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Arthrogryposis multiplex congenita, Dental malocclusion	OMIM:608931
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Beaded ribs, Short neck, Multiple prenatal fractures, Flexion contractu...	OMIM:616897
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Cachexia, Micrognathia, Craniosynostosis, Short st...	ORPHA:808
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Delayed Membranous Cranial Ossification	Upslanted palpebral fissure, Depressed nasal ridge, Hypertelorism	ORPHA:3034
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Myofibrillar Myopathy 10	Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture...	OMIM:619040
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly	OMIM:610023
Donnai-Barrow Syndrome	Depressed nasal bridge, Hypertelorism, Proptosis, Short nose, Downslanted palpebral fissures, Iri...	ORPHA:2143
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness...	OMIM:616583
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive	OMIM:226700
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Wide nasal bridge, High...	OMIM:618393
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Prominent nose, Flexion contracture, Knee flexion contracture, Osteoporosis, Joint ...	OMIM:214150
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m...	ORPHA:1416
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion...	ORPHA:263463
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Mandibular prognathia, Osteopenia, Dental crowding, Metaphyseal widening, Knee dislocation, High ...	OMIM:620083
Zimmermann-Laband Syndrome	Hallux valgus, Wide nose, Micrognathia, Short neck, Supernumerary tooth, Bulbous nose, Gingival f...	ORPHA:3473
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Eng-Strom Syndrome	Short stature, Camptodactyly of finger, Arthritis, Scoliosis, Intrauterine growth retardation, Br...	ORPHA:1937
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis...	ORPHA:85199
Lowry-Maclean Syndrome	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, narro...	ORPHA:2409
Myopathy, Myofibrillar, 8	Spinal rigidity, Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclus...	OMIM:617258
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Hallux valgus, Mandibular prognathia, Dental crowding, Obesity, Atopic dermatitis, Cone-shaped ep...	OMIM:606772
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos...	OMIM:252600
Rhizomelic Chondrodysplasia Punctata, Type 1	Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Severe short stature, De...	OMIM:215100
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Thick nasal alae, Anteverted n...	ORPHA:2067
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Short stature, Abnormality of the dentition, ...	OMIM:182290
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Brachycephaly, Prominent interphalangeal joints, Downturn...	OMIM:618371
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation, Conve...	OMIM:600252
Scarf Syndrome	Inguinal hernia, Prominent nasal bridge, Short neck, Wide nasal bridge, Abnormal form of the vert...	OMIM:312830
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Short philtrum, Scoliosis	ORPHA:85317
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc...	OMIM:166200
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Frontal bossing, Wide nose, Skin rash, Recurrent fractures, Craniosynostosis, Persist...	OMIM:147060
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Short stature, Joint stiffness	ORPHA:2871
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High...	OMIM:309583
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Anteverted nares, Ca...	OMIM:219200
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, C...	OMIM:614188
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na...	OMIM:619736
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ...	OMIM:601957
Peripheral Dysostosis	Short stature, Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han...	ORPHA:1795
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl...	OMIM:616580
Crouzon Syndrome	Choanal atresia, Hypertelorism, Proptosis, Conjunctivitis, Iris coloboma, Convex nasal ridge, Ptosis	ORPHA:207
Hypochondroplasia	Frontal bossing, Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed ...	OMIM:146000
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Congenital Hydrocephalus	Bulbous nose, Downslanted palpebral fissures, Iris coloboma	ORPHA:2185
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Mandibular prognathia, Osteoporosis, Recurrent aspiration pneumonia	OMIM:619971
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Aspiration p...	ORPHA:354
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Antev...	OMIM:616894
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Club...	ORPHA:1525
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Growth delay, Atrophic scars, Enamel hypoplasia	ORPHA:79402
Verheij Syndrome	Branchial cyst, Short neck, Hemivertebrae, Joint laxity, Vertebral fusion, Anteverted nares, Shor...	OMIM:615583
Schneckenbecken Dysplasia	Short neck, Snail-like ilia, Dumbbell-shaped long bone, Flat acetabular roof, Advanced tarsal oss...	OMIM:269250
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Wormian bones, Short stature, Recurrent fractures, Micrognathia, Cor...	OMIM:112240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Bulging epiphyses, Flat occiput, Thin bony cortex, Enlargement of the ankles, Re...	OMIM:600081
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Thin upper lip vermilion	OMIM:613576
Raynaud-Claes Syndrome	Mandibular prognathia, Midface retrusion, Scoliosis	OMIM:300114
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Disproportionate short-trunk short stature, Genu valgum, Irregular vertebra...	OMIM:609223
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5...	ORPHA:2710
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Narrow palpebral fissure, Ocular ante...	OMIM:615145
Scheie Syndrome	Mandibular prognathia, Wide nose, Depressed nasal bridge, Short neck, Genu valgum, Spondylolisthesis	OMIM:607016
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Sandal gap, Joint hypermobility, Carious teeth, Overweight, Small hand...	OMIM:619229
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Midface retrusion, Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone...	OMIM:118651
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Thor...	OMIM:313420
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Proportionate short stature, Short toe, Obesity, Cone-shaped ...	OMIM:619269
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	ORPHA:776
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Short stature, Wide nasal bridge, Wide mouth, Ev...	OMIM:619595
Harel-Yoon Syndrome	Mandibular prognathia, Frontal bossing, Micrognathia, Hip dysplasia, Scoliosis, Short nose	OMIM:617183
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Keratitis,...	OMIM:226670
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, High palate, ...	OMIM:300676
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Osteopenia, Prominent nose, Short metatarsal, Short metacarpal, Rhizomelia...	OMIM:614813
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Turricephaly, Anteverted nares, Craniosynostosis, Micro...	ORPHA:171839
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Broad nasal tip, Carious teeth, Hepatitis, Thick vermilion border, Enamel hypoplasia	ORPHA:363523
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, Prominent nasal ...	OMIM:619880
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Hype...	OMIM:615761
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Carious teeth,...	ORPHA:1716
Frontofacionasal Dysplasia	Telecanthus, Cataract, Hypertelorism, Underdeveloped nasal alae, Ankyloblepharon, Microcornea, Ey...	OMIM:229400
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Small for gestational age, Selective...	ORPHA:2959
Pseudodiastrophic Dysplasia	Smooth philtrum, Frontal bossing, Lumbar hyperlordosis, Anteverted nares, Phalangeal dislocation,...	OMIM:264180
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Brachycephaly, Depressed nasa...	OMIM:156200
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	OMIM:607850
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp...	ORPHA:86820
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Hyper...	OMIM:130000
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Micrognathia, Short neck, Tapered finger, Narrow mouth, Obesity, Narrow palate, ...	OMIM:620250
Fanconi Anemia, Complementation Group S	Macrodontia, Anteverted nares, Proximal placement of thumb, Prominent nasal bridge, Underdevelope...	OMIM:617883
Temtamy Syndrome	Highly arched eyebrow, Hypertelorism, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Iris...	OMIM:218340
Intellectual Developmental Disorder, Autosomal Recessive 48	Mandibular prognathia, Small hand, Long philtrum	OMIM:616269
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Short stature, Pro...	OMIM:610682
Nizon-Isidor Syndrome	Unilateral ptosis, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Hyperteloris...	OMIM:618872
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Trident hand, Short metacarpal, Depressed nasal bridge, Thoracolumba...	OMIM:618853
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morpho...	ORPHA:93262
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Orofacial cleft, Split foot, Triphalangeal thumb	ORPHA:3434
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Pneumonia, Short stature, Bowing of ...	ORPHA:1855
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Short stature, Congenital diaphragmatic hernia, Short neck, Tapered finger...	ORPHA:284180
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Frontal bossing, Wide nose, Short stature, Tapered finger, Kyphosis, Obesity, Oligodontia, Everte...	ORPHA:276630
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet...	ORPHA:192
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Kabuki Syndrome 2	Joint laxity, Natal tooth, Short stature, Micrognathia, Broad nasal tip, Postnatal growth retarda...	OMIM:300867
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Atrophic scars...	ORPHA:79405
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Intellectual Developmental Disorder, Autosomal Recessive 45	Anteverted nares, Highly arched eyebrow, Hypertelorism, Synophrys, Bulbous nose, Wide nasal bridg...	OMIM:615979
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Slender build, Genu recurvatum, Short stature, Kyphosis, Bra...	ORPHA:364028
Burn-Mckeown Syndrome	Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Short nose, Short palpebral fissure, Bi...	ORPHA:1200
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for gestational age, Cu...	OMIM:612731
Macrocephaly-Developmental Delay Syndrome	Microretrognathia, Frontal bossing, Mandibular prognathia, Craniosynostosis, Scaphocephaly, Recur...	ORPHA:397612
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Biemond Syndrome Ii	Iris coloboma	OMIM:210350
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density...	OMIM:618392
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Prominent metopic ridge, Broad hallux, Small for gestational age, Depressed nasa...	OMIM:614541
Marshall-Smith Syndrome	Bowing of the long bones, Failure to thrive, Anteverted nares, Choanal atresia, Craniosynostosis,...	ORPHA:561
Cranioectodermal Dysplasia 1	High, narrow palate, Tubulointerstitial nephritis, High palate, Widely spaced teeth, Microdontia,...	OMIM:218330
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Whistling Face Syndrome, Recessive Form	Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Trismus,...	OMIM:277720
Achondrogenesis	Frontal bossing, Inguinal hernia, Severe short stature, Anteverted nares, Short neck, Micrognathi...	ORPHA:932
Goldberg-Shprintzen Megacolon Syndrome	Hypertelorism, Sparse eyebrow, Wide nasal bridge, Iris coloboma, Ptosis	ORPHA:66629
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Frontal bossing, Dental crowding, Anteverted nares, Prominent nasal br...	OMIM:618825
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoa...	ORPHA:1822
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Severe short stature, Foot joint contracture, Anteverted nares, Infancy onset sh...	ORPHA:444072
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Short stature, Hypoplasia of the maxilla, Brach...	ORPHA:93950
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxi...	OMIM:166300
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia...	ORPHA:94066
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Prominent nasal bridge, Mic...	ORPHA:3409
Orofaciodigital Syndrome Type 5	Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral...	ORPHA:2919
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Autosomal Dominant Prognathism	Mandibular prognathia, Everted lower lip vermilion, Open bite	ORPHA:2964
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Lipoatrophy, Micrognathia, Carious teeth, Kyphosis, Open bite, Reduced bone...	ORPHA:2617
Xq25 Microduplication Syndrome	Mandibular prognathia, Malar flattening, Thick vermilion border, Short stature	ORPHA:521258
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Fl...	OMIM:180849
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, High palate, ...	OMIM:303600
Baraitser-Winter Syndrome 1	Epicanthus, Anteverted nares, Highly arched eyebrow, Hypertelorism, Wide nasal bridge, Chorioreti...	OMIM:243310
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Narrow mouth, Ankylosis, Dental malocclusion, Cleft palate, Anteri...	OMIM:602483
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Atrophic scars...	ORPHA:79406
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of teeth, Short p...	OMIM:608612
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Conical tooth, Scarring al...	OMIM:618727
Parkinson-Dementia Syndrome	Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign	OMIM:260540
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas...	ORPHA:420561
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Anteverted nares, Short stature, Craniosynostosis, Wide anterior fontanel, Brachyce...	OMIM:601853
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal brid...	OMIM:618622
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Ectopia lentis, Palpebral edema, Iris coloboma, Ptosis	ORPHA:1259
Aredyld	Mandibular prognathia	OMIM:207780
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Short...	ORPHA:96334
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Multiple joint contractures, Short stature, Spinal rigi...	ORPHA:324604
Ohdo Syndrome	Joint laxity, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Wide nasal b...	OMIM:249620
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,...	OMIM:268310
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis, Inflammat...	ORPHA:816
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Neuropathy, Hereditary Motor And Sensory, Russe Type	Claw hand deformity, Scoliosis, Paralysis	OMIM:605285
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Small for gestational age, Shor...	OMIM:123450
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Multiple prenatal fractures, B...	OMIM:618644
Stuve-Wiedemann Syndrome 1	Enlarged joints, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contractur...	OMIM:601559
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Slender nose, Micrognathia, Postnatal growth retardation, Short nose, B...	OMIM:615419
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Inguinal hernia, Anteverted nares, Down-sloping shoulders, Prominen...	OMIM:227330
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s...	OMIM:607326
Qazi-Markouizos Syndrome	Prominent nasal bridge, Tapered finger, High, narrow palate, Hypoplasia of teeth, Delayed ossific...	ORPHA:3010
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Frontal bossing, Short stature, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasi...	ORPHA:163966
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Midface retrusion, Brachydactyly	ORPHA:435804
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Inguinal hernia, Small for gestational age, Anteverted nares, Eczema, Microg...	ORPHA:352490
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig...	OMIM:115150
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micrognathia, Calvarial skull defect, Abnormal pelvis ...	ORPHA:1426
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Frontal bossing, Anteverted nares, Depressed nasal bridge, Cra...	ORPHA:93329
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Short neck, Wide anterior fontanel, M...	OMIM:263210
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Wide nasal ridge, Camptodactyly, Umbilical hernia, Clinodactyly	OMIM:618786
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Depressed nasal bridge, Short stature, Submucous cleft hard palate, Periarti...	OMIM:601492
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Abruzzo-Erickson Syndrome	Epicanthus, Microcornea, Coloboma, Chorioretinal coloboma, Iris coloboma	ORPHA:921
Baraitser-Winter Cerebrofrontofacial Syndrome	Telecanthus, Epicanthus, Palpebral edema, Wide nose, Highly arched eyebrow, Hypertelorism, Promin...	ORPHA:2995
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M...	ORPHA:2863
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Cutaneous finger syndactyly, Hig...	OMIM:211380
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Antever...	ORPHA:83
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Short stature, Conical tooth, Hypoplasia of the maxilla, Cari...	OMIM:129400
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Cortical subpe...	ORPHA:94089
Intellectual Developmental Disorder, Autosomal Recessive 46	Mandibular prognathia, Short stature, Large for gestational age, Growth delay, Widely spaced teeth	OMIM:616116
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,...	OMIM:241530
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle...	ORPHA:217017
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Absent nasal b...	ORPHA:171866
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Tall chin, Wide nasal bridge, Prominent nose	ORPHA:137831
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Hemivertebrae, Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted n...	OMIM:614701
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Atrophic scars...	ORPHA:79411
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79444
Specific Granule Deficiency 2	Osteopenia, Brachydactyly, Sandal gap, Conical tooth, Recurrent pneumonia, Recurrent otitis media...	OMIM:617475
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deep philtrum, Flexion contractu...	OMIM:619720
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Broad nasal tip, Hypoplasia of t...	OMIM:136760
Gm1-Gangliosidosis, Type Iii	Short stature, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lu...	OMIM:230650
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Trigonocephaly, Anteverted nares, Wide mouth, Delaye...	OMIM:618506
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Eczema, Micrognathia, Oral ulce...	OMIM:617052
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased intervertebral space, Thoracic...	OMIM:618961
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi...	OMIM:216400
Autosomal Recessive Hypophosphatemic Rickets	Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge...	ORPHA:289176
Acromicric Dysplasia	Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, D...	OMIM:102370
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Postnatal growth retardation, Platyspondyly, Scoliosis, Genu varum	OMIM:618728
Clark-Baraitser Syndrome	Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Anteverted nares, Dolichocephaly, ...	OMIM:617752
Maxillofacial Dysostosis	Mandibular prognathia	OMIM:155000
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, Narrow mouth, Deep...	ORPHA:261120
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Flexion contracture, High palate, ...	OMIM:248370
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Short stature, Micrognathia, Bulbous...	OMIM:613604
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal...	ORPHA:2920
Atkin-Flaitz Syndrome	Anteverted nares, Short stature, Abnormality of the dentition, Broad nasal tip, Obesity, Thick ve...	ORPHA:1193
Zimmermann-Laband Syndrome 3	Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Thi...	OMIM:618658
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Pseudohypoparathyroidism Type 1A	Short neck, Short metatarsal, Reduced bone mineral density, Conjunctivitis, Broad distal phalanx ...	ORPHA:79443
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Recurrent fractures, Short...	OMIM:616507
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Frontal bossing, Short stature, Rhizomelia, Metaphyseal cupping of proximal pha...	OMIM:300863
Masa Syndrome	Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia	OMIM:303350
Leopard Syndrome 2	Mandibular prognathia, Depressed nasal bridge, Short stature, Short neck, Thick lower lip vermili...	OMIM:611554
Cerebellofaciodental Syndrome	Short stature, Tapered finger, Short neck, Dental malocclusion, Shortening of all distal phalange...	OMIM:616202
Coffin-Siris Syndrome 3	Joint laxity, Inguinal hernia, Wide nose, Anteverted nares, Depressed nasal bridge, Short stature...	OMIM:614608
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Small for...	OMIM:616229
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Short neck, Downturned corners of mouth, Short p...	OMIM:619297
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Patchy variation in bone mineral density, M...	OMIM:215140
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Sacral dimple, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Microg...	OMIM:618272
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Lumbar hyperlordosis, Short stature, Ataxia, Kyphosis, Hip dislocation, Sc...	OMIM:616756
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Anteverted nares, Brachycephaly,...	ORPHA:46
Burn-Mckeown Syndrome	Mandibular prognathia, Inguinal hernia, Short stature, Choanal atresia, Prominent nasal bridge, M...	OMIM:608572
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Short stature, Carious teeth, Deep phi...	ORPHA:2701
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Short palm, Joint...	OMIM:305400
Sotos Syndrome	Mandibular prognathia, Frontal bossing, Joint laxity, Anteverted nares, Depressed nasal bridge, B...	OMIM:117550
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short stature, Kyphoscoliosis	ORPHA:93304
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Short neck, Bifid nasal tip, Vertebral clefting, Depr...	OMIM:616854
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso...	ORPHA:94068
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Tapered finger, Obesity, Hip dysplasia, Thin vermilion border, Hi...	OMIM:617991
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Obesity, Malar flattening, Open mouth, Retrognathi...	OMIM:613670
Corneal Dystrophy, Meesmann, 2	Epiphora	OMIM:618767
Localized Scleroderma	Fasciitis, Abnormality of the dentition, Abnormality of the nose, Flexion contracture, Dental mal...	ORPHA:90289
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Growth delay, Narrow m...	ORPHA:1495
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, High palate, Microdontia, Short ph...	ORPHA:221016
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Short stature, Prominent nasal bridge, Tapered finger, Prominent nose, Too...	OMIM:619576
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth...	OMIM:300882
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	OMIM:617404
Wild Type Abeta2M Amyloidosis	Arthropathy, Abnormal intervertebral disk morphology, Abnormality of the vertebral endplates, Bon...	ORPHA:85446
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Short stature, Micrognathia, Postnatal grow...	ORPHA:73272
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ...	OMIM:300590
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:133540
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Sm...	OMIM:268400
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Anteverted nares, Kyphoscoliosis, Bulbous nose, Wide ...	OMIM:616354
Stimmler Syndrome	Microdontia, Intrauterine growth retardation, Short stature, Abnormal dental enamel morphology	ORPHA:3199
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Cleft lip, Cleft palate, Increased ...	OMIM:618761
Sanjad-Sakati Syndrome	Depressed nasal bridge, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, A...	ORPHA:2323
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp...	OMIM:235510
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls	OMIM:300718
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Long philtru...	OMIM:613792
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Hemivertebrae, Parietal bossing, Vertebral fusion, Odontogenic keratocysts...	OMIM:109400
Cockayne Syndrome Type 1	Mandibular prognathia, Short chin, Foot joint contracture, Scarring, Delayed eruption of primary ...	ORPHA:90321
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ...	ORPHA:93296
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered ...	OMIM:616737
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Depressed nasal bridge, Short stature, Kyphosis, Congenital bilateral ...	ORPHA:85288
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Hypertelorism, Abnormal pupil morphology, Microcornea, Blepharophimo...	ORPHA:3374
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Short sta...	ORPHA:884
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de...	OMIM:611209
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Short stature, Cervical kyphosis, Tapered finger, Short neck, Overweight, ...	ORPHA:401923
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Mandibular prognathia	OMIM:619031
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Chorioretinal coloboma	OMIM:611638
Christianson Syndrome	Mandibular prognathia, Cachexia, Abnormality of the nose, Joint hyperflexibility, Arthrogryposis ...	ORPHA:85278
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose, Delayed puberty	ORPHA:2598
Epithelial Recurrent Erosion Dystrophy	Epiphora	OMIM:122400
C Syndrome	Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Anteverted nar...	OMIM:211750
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Underdeveloped nasal alae, Parietal foramina, Brac...	OMIM:601224
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Brachycephaly, Short nose, S...	ORPHA:1514
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Sacral dimple, Inguinal hernia, Short stature, Prominent ...	OMIM:613544
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Triphalangeal th...	ORPHA:794
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Joint stiffness	ORPHA:1345
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Malar prominence, Micrognathia, Kyphosis, Osteoporosis, S...	ORPHA:48431
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ...	ORPHA:178303
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg...	ORPHA:261144
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Retrognathia, Growth delay, Hip dysplasia, Inflammation of the large intes...	OMIM:614576
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Flat occiput, Calcaneovalgus deformity, Hypoplast...	OMIM:277590
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Inguinal hernia, Proximal placement of thumb, K...	ORPHA:3121
Osteopetrosis, Autosomal Dominant 1	Thickened calvaria, Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morp...	OMIM:607634
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Genu recurvatum, Short stature, Reduced bone mineral density, Downturned corner...	ORPHA:1185
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario...	OMIM:131300
Koolen-De Vries Syndrome	High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Vertebral fusi...	ORPHA:96169
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
17P13.3 Microduplication Syndrome	Frontal bossing, Inguinal hernia, Congenital hip dislocation, Wide nose, Short neck, High palate,...	ORPHA:217385
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Short stature, Scaphocephaly, W...	OMIM:619989
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ...	OMIM:212720
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae,...	ORPHA:96121
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Eczema, Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth, Failure to t...	OMIM:620007
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, High pa...	OMIM:617602
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocati...	ORPHA:75840
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Short stature, Short neck, Deep ...	OMIM:619750
Acrocephalopolydactyly	Genu recurvatum, Short neck, Oxycephaly, Depressed nasal ridge, Short long bone, Short nose, Brac...	ORPHA:221054
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Thin upper lip vermilion, Metatarsus adductus, Hip dysplasia, Recurrent ot...	OMIM:301069
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature	OMIM:618453
Phelan-Mcdermid Syndrome	Sacral dimple, Micrognathia, Dolichocephaly, Bulbous nose, Dental malocclusion, 2-3 toe syndactyl...	OMIM:606232
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Anteverted nares, Choanal atresia, Astigmatism, Chorioretinal coloboma, Peters anomal...	ORPHA:494344
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Fragile X Syndrome	Mandibular prognathia, Joint laxity, Metacarpophalangeal joint hyperextensibility, Scoliosis	OMIM:300624
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finger, Clef...	OMIM:239300
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi...	ORPHA:93356
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Hypophosphatemic Rickets, Autosomal Recessive, 2	Short stature, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rick...	OMIM:613312
Richieri-Costa/Guion-Almeida Syndrome	Hypotelorism, Deeply set eye, Eyelid coloboma, Downslanted palpebral fissures, Iris coloboma, Ptosis	OMIM:268850
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe, High palate, Dolichocephaly	OMIM:310400
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Anteverted nares, Dep...	OMIM:620001
Trisomy 20P	Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Reduced bone mine...	ORPHA:261318
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif...	OMIM:615777
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, ...	ORPHA:1895
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Dental crowding, Short stature, Underdeveloped nasal alae, Kyp...	OMIM:180870
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Chromosome Xq25 Duplication Syndrome	Mandibular prognathia, Malar flattening, Thick vermilion border, Short stature	OMIM:300979
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion...	ORPHA:536516
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Short stature, Malar prominence, Short neck, Micrognathia, Hyperlordo...	ORPHA:2522
Laurence-Moon Syndrome	Epicanthus, Cataract, Iris coloboma	ORPHA:2377
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilion...	ORPHA:363444
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,...	OMIM:218000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip...	ORPHA:480907
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Inguinal hernia, Otosclerosis, Wide nose, Short stature, Recurr...	ORPHA:580
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
White-Sutton Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Brachycephaly, ...	OMIM:616364
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Hip dysplasia, Scoliosis, Delayed puberty, Short nose	ORPHA:496790
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Proportionate shor...	OMIM:277600
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Punctate vertebral calcifi...	ORPHA:1914
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Short stature, Micro...	OMIM:619833
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Micrognat...	OMIM:300534
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Short stature, Cleft palate, Thin vermilion border, Narrow mouth, Incisor macrodon...	OMIM:615502
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th...	ORPHA:2909
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Iris coloboma	OMIM:615147
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Naegeli-Franceschetti-Jadassohn Syndrome	Swelling of proximal interphalangeal joints, Interphalangeal joint contracture of finger, Abnorma...	ORPHA:69087
Short Syndrome	Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Abnormal...	ORPHA:3163
Luscan-Lumish Syndrome	Mandibular prognathia, Short stature, Long nose, Advanced ossification of carpal bones, Obesity, ...	OMIM:616831
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia...	OMIM:608022
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Convex nasal ridge, Delayed eruption of prim...	OMIM:619322
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Hip dysplasia, High palate, Scoliosis, Ar...	OMIM:611890
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum, De...	ORPHA:93945
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Hip dislocation, Scoliosis	OMIM:300434
Dacryocystitis-Osteopoikilosis Syndrome	Lacrimation abnormality	ORPHA:1562
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge...	ORPHA:2662
Celiac Disease, Susceptibility To, 1	Short stature, Eczema, Postnatal growth retardation, Osteoporosis, Rickets, Thyroiditis, Weight l...	OMIM:212750
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Kyphosis, Ataxia, Scoliosis	ORPHA:101075
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High pala...	ORPHA:254531
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Slender lo...	OMIM:618265
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Depressed nasal b...	ORPHA:2025
Ring Chromosome 8 Syndrome	Frontal bossing, Anteverted nares, Deviation of finger, Short nose, Abnormal palate morphology	ORPHA:1450
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Prominen...	OMIM:614886
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger...	ORPHA:2215
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve...	ORPHA:2462
Trichodentoosseous Syndrome	Frontal bossing, Increased bone mineral density, Taurodontia, Widely spaced teeth, Dolichocephaly...	OMIM:190320
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Brachycephaly...	ORPHA:1299
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Antevert...	ORPHA:50945
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Carious teeth, Downturned corners of mouth, Hypopl...	ORPHA:1110
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Short stature, Bifid nasal tip, Bilateral cleft lip and palate, High pa...	OMIM:618874
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Growth delay, G...	ORPHA:77259
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Open mou...	OMIM:300143
Spastic Paraplegia 46, Autosomal Recessive	Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up...	OMIM:614409
Chondroectodermal Dysplasia With Night Blindness	Abnormality of the knee, Short stature, Platyspondyly, Abnormal patella morphology, Epiphora	ORPHA:319195
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding to...	OMIM:610253
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Ingui...	OMIM:600325
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short neck, Short thumb, Obesi...	OMIM:618821
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae, Flex...	OMIM:224690
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Decreased body weight, Dental crowding, Anteverted nares, Short stature, Persistence of primary t...	OMIM:618342
Noonan Syndrome 4	Depressed nasal bridge, Short stature, Short neck, Large for gestational age, Dental malocclusion...	OMIM:610733
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Rhizomelia, Large for gestatio...	OMIM:616638
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Frontal bossing, Inguinal hernia, Flat occiput, Increased vertebral height...	OMIM:248500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Lon...	ORPHA:508533
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Narrow mo...	ORPHA:261295
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypertelorism, ...	OMIM:167730
Peho-Like Syndrome	Open mouth, Retrognathia, Short nose, Tapered finger	OMIM:617507
Sotos syndrome	Mandibular prognathia	DECIPHER:17
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Kyphoscoliosis, Proportionate short stature, Short toe, Deep philtrum, Obe...	ORPHA:404443
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Short neck, Prominent nose, Downturned corner...	OMIM:601808
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Oste...	ORPHA:284984
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Prominent nasal bridge, Micrognathia, Short ne...	ORPHA:247262
Corneal Dystrophy, Meesmann, 1	Epiphora	OMIM:122100
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Depressed nasal bridge, Short stature, Kyphosis, Recurren...	OMIM:618493
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi...	ORPHA:352665
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Abnormal hip bone morp...	ORPHA:3236
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wri...	ORPHA:2848
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Short...	OMIM:200610
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co...	OMIM:180700
Donnai-Barrow Syndrome	Cataract, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Hypoplasia of the iris, Proptos...	OMIM:222448
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of...	OMIM:618729
Keratosis Pilaris Atrophicans	Epiphora	OMIM:604093
Tenorio Syndrome	Mandibular prognathia, Osteopenia, Wide nose, Joint laxity, Anteverted nares, Recurrent pneumonia...	OMIM:616260
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Depressed nasal ridge, Brachycephaly, Orofacial cleft, High pala...	ORPHA:1520
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Kyphosis, Scoliosis	OMIM:300861
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the...	ORPHA:85279
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Inguinal hernia, Thin upper lip vermilion, Short stature, Metatarsus adduct...	OMIM:611962
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Autosomal Dominant Omodysplasia	Short humerus, Frontal bossing, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislocati...	ORPHA:93328
Aspartylglucosaminuria	Mandibular prognathia, Thickened calvaria, Inguinal hernia, Abnormal morphology of ulna, Abnormal...	ORPHA:93
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Depressed nasal bridge, Short stature, Abnormality of the dentition, Short neck, Wide mouth, Enam...	OMIM:615802
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Abnormality of the dentition, Pr...	ORPHA:627
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ...	OMIM:156550
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Congenital Disorder Of Glycosylation, Type Ii	Epicanthus, Cataract, Wide nasal bridge, Upslanted palpebral fissure, Iris coloboma	OMIM:607906
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, High palate, Short philtrum, Bifid uvula, Anteverted nares, Depressed nasal bridge,...	ORPHA:96184
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Inguinal hernia, Tapered finger, Flexion contracture, Hyperextensibility at ...	ORPHA:544503
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Broad nasal ti...	OMIM:620157
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Single naris, Microcornea, Eyelid coloboma, Abnormali...	ORPHA:141099
Tetrasomy 5P	Pericallosal lipoma, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Short neck, L...	ORPHA:3309
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased...	OMIM:614592
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Omphalocele, Increased body mass index, Congenital hip dislocation, In...	OMIM:614450
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Thin upper lip vermilion, Branchial cyst, Dental crowdi...	ORPHA:435938
Teebi Hypertelorism Syndrome 1	Omphalocele, Natal tooth, Thin upper lip vermilion, Frontal bossing, Dental crowding, Anteverted ...	OMIM:145420
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Lar...	OMIM:213980
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Wide nose, Congenital hip dislocation, Kyphoscoliosis, Prominent nose, Limited elb...	OMIM:300280
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Underdeveloped nasal alae, Kyphosis, Deep philtrum, Depressed nasal ridge, Wide nas...	ORPHA:77300
Noonan Syndrome 5	Mandibular prognathia, Depressed nasal bridge, Short stature, Large for gestational age, Short ne...	OMIM:611553
Congenital Disorder Of Glycosylation, Type Id	Epicanthus, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Iris coloboma	OMIM:601110
Intellectual Developmental Disorder, Autosomal Recessive 38	Mandibular prognathia, Plagiocephaly, Sandal gap, Narrow palate	OMIM:615516
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Waardenburg Syndrome, Type 3	Mandibular prognathia, Camptodactyly of finger, Prominent nasal bridge, Wide nasal bridge, Cutane...	OMIM:148820
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Knee flexion contracture, Short philtrum, Wrist flexion contracture, Dislocated rad...	OMIM:610758
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ...	ORPHA:93324
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of...	ORPHA:861
Cooper-Jabs Syndrome	Frontal bossing, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ...	ORPHA:1488
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Anteverted nares, Micrognathia, Postnatal growt...	OMIM:619135
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Kyphoscoliosis, Protruding...	ORPHA:324410
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m...	OMIM:602535
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,...	ORPHA:85435
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Thin upper lip vermilion, Frontal bossing, Failure to thrive in infa...	OMIM:616801
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Depressed nasal bridge, Pneumonia, Short neck, Thin lower lip vermi...	OMIM:613328
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Prognathism, Mandibular	Mandibular prognathia, Thick lower lip vermilion, Craniosynostosis	OMIM:176700
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality	OMIM:167400
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Kyphosis, Ataxia, Scoliosis	ORPHA:101078
Trigonocephaly 1	Omphalocele, Craniosynostosis, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Meto...	OMIM:190440
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T...	ORPHA:1307
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Abnormality of ...	ORPHA:163654
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low...	OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Clinodactyly of the 5th ...	OMIM:617061
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:3253
Bruck Syndrome 1	Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow f...	OMIM:259450
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Pe...	ORPHA:534
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, ...	OMIM:609008
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ...	ORPHA:562
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr...	OMIM:619143
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge	OMIM:614564
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, ...	OMIM:602499
Stromme Syndrome	Cataract, Prominent nasal bridge, Sclerocornea, Hypertelorism, Wide nasal bridge, Microcornea, De...	OMIM:243605
Pallister-Hall-Like Syndrome	Toe syndactyly, Median cleft lip, Depressed nasal bridge, Short stature, Micrognathia, Postaxial ...	OMIM:241800
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Failure to thrive in infancy,...	OMIM:618975
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
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
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micrognathia, Short neck, Metap...	OMIM:224400
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Atrophic scars, Scoliosis	OMIM:616471
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Micrognathia, Short neck, Meta...	OMIM:255800
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ...	OMIM:618150
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Protruding tongue, Broad nasal ...	OMIM:619777
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Distal Deletion 10Q	Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, High...	ORPHA:96148
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ...	ORPHA:487796
Achalasia-Microcephaly Syndrome	Mandibular prognathia, Growth delay, Prominent nose, Micrognathia	ORPHA:929
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Lacrimation abnormality	ORPHA:1484
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Anteverted nares, Joint hypermobility, Hyp...	ORPHA:481152
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis...	OMIM:309000
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o...	OMIM:253200
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Hernia, Joint laxity, Depressed nas...	ORPHA:94065
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cubitus valgus, Wide nasal bridge, Genu valgum, Joint hyperflexibility, Hy...	ORPHA:1778
Spastic Paraplegia 50, Autosomal Recessive	Mandibular prognathia, Wide nasal ridge, Bulbous nose, Wide mouth, High palate, Short philtrum, A...	OMIM:612936
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Short metacarp...	ORPHA:221008
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Osteopenia, Thickened ribs, Short neck, Brachycephaly, Cortical thickening...	ORPHA:309282
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Short neck, Preaxial polydactyly, Brachycephaly, Narrow greater sciatic notch, Abse...	OMIM:617925
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Thick nasal alae, Ovoid vertebral bodies, Short neck, Joint stif...	ORPHA:583
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short...	OMIM:301900
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Keratitis, Folliculitis, Conjunctivitis, Enamel hypopl...	OMIM:612843
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor...	OMIM:277300
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Rhizomelia,...	OMIM:222765
Opsismodysplasia	Frontal bossing, Abnormally ossified vertebrae, Flat occiput, Depressed nasal bridge, Severe shor...	ORPHA:2746
Monosomy 18Q	Mandibular prognathia, Prominent nose, Downturned corners of mouth, High palate, Short philtrum, ...	ORPHA:1600
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Inguinal hernia, Wide nose, Sandal gap, Anteverted nares, Depressed na...	OMIM:614607
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Short stature, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malo...	ORPHA:85321
Carpenter Syndrome 2	Short neck, High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion con...	OMIM:614976
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,...	OMIM:311200
49,Xxxyy Syndrome	Eunuchoid habitus, Mandibular prognathia, Micrognathia, Recurrent upper respiratory tract infecti...	ORPHA:261534
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Abnormality of the dentition, Joint stiffness, Kyphosis, Scoliosis, Dolichocephaly	ORPHA:1548
Cranioectodermal Dysplasia 3	Joint laxity, Frontal bossing, Sandal gap, Short stature, Postaxial polydactyly, Micrognathia, 2-...	OMIM:614099
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Lacrimation abnormality, Short stature	ORPHA:1882
Kagami-Ogata Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Kyphosco...	OMIM:608149
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Short stature, Kyphoscoliosis, Hip dislocation, Wide nasal bridge,...	OMIM:618005
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Inguinal hernia, Small for gestational age, Short stature, Fifth finger distal phalanx clinodacty...	ORPHA:3369
Osteopetrosis, Autosomal Recessive 3	Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis	OMIM:259730
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Lethal Recessive Chondrodysplasia	Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses	ORPHA:1423
Crisponi Syndrome	Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture...	ORPHA:1545
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short statu...	ORPHA:37553
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Short stature, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpho...	ORPHA:1355
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short neck, Underdeveloped nasal a...	ORPHA:2083
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Narrow mouth, Short nose, Delayed eruption of permanent teeth, Sh...	OMIM:619356
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna	ORPHA:77296
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Atypical scarring of skin, Scoliosis, Dentinogenesis im...	OMIM:229200
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Depressed nasal bridge, P...	ORPHA:46627
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Abnormal nasal morphology, Kyphosis, Non-midline clef...	ORPHA:236
Keratoendotheliitis Fugax Hereditaria	Epiphora	OMIM:148200
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Hypoplastic ilia...	ORPHA:93315
Perlman Syndrome	Inguinal hernia, Femoral hernia, Anteverted nares, Micrognathia, High, narrow palate, Short nose,...	ORPHA:2849
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Premature loss of teeth, Absence of subcutaneous fat, Corneal sca...	OMIM:610965
Robinow Syndrome, Autosomal Recessive 2	Micrognathia, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted nares, Short ...	OMIM:618529
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Genu valgum, Downturned corners of mouth, Reduced bone mineral density, Thi...	ORPHA:2983
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ...	OMIM:615398
3C Syndrome	Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Finger syndactyly,...	ORPHA:7
Branchio-Oculo-Facial Syndrome	Cataract, Broad nasal tip, Wide nasal bridge, Nasolacrimal duct obstruction, Upslanted palpebral ...	ORPHA:1297
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S...	OMIM:278250
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Inguinal herni...	ORPHA:2412
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Brachydactyly, Short stature, Adducted thumb	OMIM:620062
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atypical scarring of skin, G...	ORPHA:79410
Marden-Walker Syndrome	Inguinal hernia, Arachnodactyly, Anteverted nares, Micrognathia, Short neck, Kyphosis, High, narr...	OMIM:248700
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Dental malocclusion, Wide nasal bridge, Lo...	ORPHA:73223
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Anteve...	OMIM:613026
Cardioacrofacial Dysplasia 1	Overhanging nasal tip, Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Postaxi...	OMIM:619142
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Cleft upper lip, Limited ...	OMIM:265050
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of ...	OMIM:179613
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Broad ribs,...	OMIM:608328
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, Low ha...	OMIM:613680
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Short stature, Underdevelope...	OMIM:615866
Polyrrhinia	Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology, Hypertelo...	ORPHA:141091
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Depressed nasal bridge, Joint hypermobility, Tapered finger, Protruding to...	OMIM:617804
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Choanal atresia, Mic...	OMIM:156400
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Short stature, Hypodontia	OMIM:616029
Roifman Syndrome	Narrow nasal bridge, Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Thin upper...	ORPHA:353298
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate...	OMIM:246560
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max...	OMIM:302350
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Bowing of the legs, Beaded ribs, Short neck, Abnormal han...	OMIM:200600
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Frontal bossing, Inguinal hernia, Persistent open anterior fontanelle, Arachnodacty...	OMIM:615539
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brachycephaly, Abnormality...	OMIM:109120
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Overlapping toe, Flat occiput, Anteverted nares,...	OMIM:619383
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Brachycephaly, Wi...	OMIM:608776
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Nablus Mask-Like Facial Syndrome	Short neck, Hypoplasia of the maxilla, High palate, Anteverted nares, Depressed nasal bridge, Sho...	OMIM:608156
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental morphology, Abnormal ...	ORPHA:2092
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Short stature, Thick lower lip vermilion, Anosmia, Wide nasal bridge, Cuta...	OMIM:210745
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Sandal gap, Depressed nasa...	OMIM:618430
Ectodermal Dysplasia 13, Hair/Tooth Type	Depressed nasal bridge, Sparse eyelashes, Hypertelorism, Wide nasal bridge, Thin eyebrow, Downsla...	OMIM:617392
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, High pa...	ORPHA:1225
Myasthenic Syndrome, Congenital, 16	Periodic paralysis, Hyperlordosis	OMIM:614198
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati...	ORPHA:96170
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Short stature, Malar prominence, Wide mouth, Joint hyperflexib...	ORPHA:2715
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Micrognathia, Congenital contracture, High palate, Scoliosis, Short nose	OMIM:615042
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi...	OMIM:184252
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Congenital diaphragmatic hernia, Osteopathia striata,...	OMIM:305600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short neck, Neonatal short-limb short stature, Radial bowing, Depressed nasal bridge, Rhizomelia,...	OMIM:151210
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Midface retrusion, Smooth phil...	OMIM:618737
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Wi...	OMIM:615560
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol...	OMIM:610743
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Frontal bossing, Increased bone mineral density, Femur f...	OMIM:259700
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ...	OMIM:258480
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Brachycephaly, High palate, Short philtrum, Long toe, Ara...	ORPHA:3063
Intellectual Developmental Disorder, X-Linked 107	Mandibular prognathia, Thin upper lip vermilion, Prominent crus of helix, Broad chin, Obesity, Sm...	OMIM:301013
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Eczema, Craniosynostosis, Abnorm...	ORPHA:2314
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis...	OMIM:614732
Wieacker-Wolff Syndrome	Anteverted nares, Short stature, Proximal placement of thumb, Micrognathia, Short neck, Hyperlord...	OMIM:314580
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Lumba...	OMIM:183900
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Period...	ORPHA:955
Acromegaly	Mandibular prognathia, Broad jaw, Frontal bossing, Wide nose, Acne, Macrodactyly, Tapered finger,...	ORPHA:963
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Abnormality of...	OMIM:618505
Fragile X Syndrome	Mandibular prognathia, Frontal bossing, Joint laxity, Sinusitis, Otitis media, Chronic otitis media	ORPHA:908
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Growth delay, Thick...	ORPHA:505652
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Frontal bossing, Everted upper lip vermilion, Depressed nasal ridge, E...	ORPHA:181
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Sacral dimple, Decreased body weight, Overlapping toe, Down-sloping sho...	OMIM:617452
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Abnormality of the vertebra...	OMIM:302950
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Congenital diaphragmatic hernia, Micro...	ORPHA:1915
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Atrophic scars...	ORPHA:79409
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, High palate, Wrist...	OMIM:121050
Costello Syndrome	Failure to thrive in infancy, Abnormal dental enamel morphology, Depressed nasal bridge, Short ne...	ORPHA:3071
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger sy...	ORPHA:464738
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Miller-Dieker Syndrome	Omphalocele, Sacral dimple, Anteverted nares, Growth delay, Abnormal upper lip morphology, Clinod...	ORPHA:531
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Short neck, Micrognathia, Prominent nose, High palate, Depressed...	ORPHA:363528
Campomelic Dysplasia	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Anteverted nares, Rocker bottom foot, Short stature, Short ne...	OMIM:301041
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy...	OMIM:613382
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, Brachycephaly, High palate, Scoliosis, Intrauterine growth ...	ORPHA:1913
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Wide nose, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Tapered finger, ...	OMIM:272430
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Flexio...	OMIM:620369
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Oligodontia, Microdontia...	OMIM:612289
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Slender nose, Arachnodactyly, Dental crowding, K...	ORPHA:397695
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ...	ORPHA:2063
Distal Duplication 5Q	Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Craniosynostosis, Micrognathia, Ab...	ORPHA:96097
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Fai...	ORPHA:3238
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Al Kaissi Syndrome	Thin upper lip vermilion, Sacral dimple, Macrodontia, Depressed nasal bridge, Short stature, Broa...	OMIM:617694
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Anteverted nares, Acne, Short stature, Micrognathia, Short neck, Kyphosis, Obesi...	ORPHA:3191
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Abnormal n...	ORPHA:363659
15q26 overgrowth syndrome	Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Taper...	DECIPHER:81
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Knee flexion contracture, Short philtrum, A...	ORPHA:371364
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal form...	ORPHA:73230
Pettigrew Syndrome	Mandibular prognathia, Thickened calvaria, Prominent nose, Flexion contracture, Wide mouth, Thick...	OMIM:304340
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Inguinal hernia, Short stature, Abnormality of the dentitio...	ORPHA:1786
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Lower limb spasticity, Hyperlordosis, Kyphosis, Babinski sign, Knee flexion cont...	OMIM:615290
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Prominent nasal bridge, Choanal atresia, Optic disc coloboma, Downslanted palpebral fissures, Iri...	ORPHA:52055
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Frontal bossing, Wide nose, Macrodactyly, Tapered finger, Abnor...	ORPHA:314769
Microform Holoprosencephaly	Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Hypotelorism, Cyclopia...	ORPHA:280200
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Frontorhiny	Epicanthus, Cataract, Hypertelorism, Midline nasal groove, Iris coloboma, Ptosis	ORPHA:391474
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Obesity, Brach...	OMIM:105830
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Gapo Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontan...	OMIM:230740
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Overlapping toe, Broad hallux, Convex nasal ridge, Micrognathia, Short stature, Genu valgum, Seve...	ORPHA:293967
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Midface r...	ORPHA:3219
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Th...	ORPHA:508498
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia	OMIM:211900
Gorlin-Chaudhry-Moss Syndrome	Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Brachycephaly, Oligodonti...	ORPHA:2095
Autosomal Dominant Robinow Syndrome	Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va...	ORPHA:3107
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin...	OMIM:126550
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda...	ORPHA:235
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Prominent nasal bridge, Short neck, Kyphosis, Flexion contracture, High palate, Scoliosis, Dolich...	ORPHA:178148
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Brachycephaly, Downturned corn...	ORPHA:79500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Micrognat...	OMIM:618291
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Frontal bossing, Short stature, Tapered finger, Micrognathia, Kyphosis, Wide nasal br...	ORPHA:2479
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Short stature, Prominent nasal bridge, Aplasia/Hy...	OMIM:613803
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Broad ribs, Iliac crest serration, Rhizomelia, H...	ORPHA:239
Lethal Congenital Contracture Syndrome 7	Paralysis, Knee flexion contracture	OMIM:616286
Roifman Syndrome	Downturned corners of mouth, Irregular vertebral endplates, Clinodactyly of the 5th finger, Short...	OMIM:616651
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, 11 pairs of ribs, Tented upper lip vermilion, Prominent metopic...	ORPHA:488632
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangi...	ORPHA:2547
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Lipodystrophy, Anteverted nares, Mic...	OMIM:209885
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Sho...	OMIM:261540
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Thin upper lip vermilion, Frontal b...	OMIM:309520
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Long philtrum, Short nose...	ORPHA:1389
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Short stature, Arthritis,...	ORPHA:229717
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Short stature, Short neck, Micrognathia, Limitat...	ORPHA:2077
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Trisomy 13	Cataract, Abnormal eyelash morphology, Hypotelorism, Aplasia/Hypoplasia of the iris, Deeply set e...	ORPHA:3378
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowt...	ORPHA:313855
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Depressed nasal bridge,...	ORPHA:1860
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bri...	ORPHA:2021
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Focal Facial Dermal Dysplasia Type Iii	Abnormal sacroiliac joint morphology, Lacrimation abnormality	ORPHA:1807
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Frontal bossing, Turricephaly, Tapered f...	OMIM:613603
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Short stature, Growth delay, Long philtrum, Sho...	ORPHA:438178
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Arthrogryposis And Ectodermal Dysplasia	Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip, Brachycephaly,...	OMIM:601701
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Micrognathia, Short neck, Prominent nose, 2-3 toe cutaneous syndactyl...	OMIM:609625
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal ...	OMIM:152950
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Brachycephaly, Hypoplastic coccy...	OMIM:619512
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Iris coloboma, Anosmia, Choanal atresia	OMIM:147950
8P11.2 Deletion Syndrome	Epicanthus, Depressed nasal bridge, Hypertelorism, Anosmia, Upslanted palpebral fissure, Microcor...	ORPHA:251066
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb	ORPHA:2252
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Short nose,...	OMIM:615851
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Depressed nasal bridge, Short stature, Sagittal craniosynostosis, Micrognathia, Scap...	OMIM:616901
Bresek Syndrome	Neonatal death, Iris coloboma, Convex nasal ridge	ORPHA:85284
Trisomy 12P	Turricephaly, Short stature, Short neck, Micrognathia, Wide nasal bridge, Cleft palate, Downturne...	ORPHA:1699
Warburg Micro Syndrome 3	Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Flexion contracture, Brachycephaly, N...	OMIM:614222
Alkaptonuria	Joint dislocation, Abnormality of the nose, Cartilage destruction, Joint stiffness, Osteoarthriti...	ORPHA:56
Joubert Syndrome With Oculorenal Defect	Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Chorioretinal coloboma, Iris col...	ORPHA:2318
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Micrognathia, Calcaneo...	ORPHA:3078
Duane Retraction Syndrome	Central heterochromia, Anteverted nares, Abnormal pupil morphology, Wide nasal bridge, Blepharosp...	ORPHA:233
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Brachycephaly, Coxa vara, High ...	ORPHA:2962
Joint Laxity, Short Stature, And Myopia	Iris coloboma, Chorioretinal coloboma	OMIM:617662
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Co...	OMIM:601552
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Osteopenia, Chronic gastritis, Mild postnatal growth retardation, Microgna...	OMIM:150230
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom...	OMIM:300912
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, Obesity...	ORPHA:98794
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly, Short nose	OMIM:618087
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge	OMIM:618302
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Kyphosis, Paraparesis, Scoliosis	ORPHA:99014
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, High palate, Short ...	OMIM:619148
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Poi...	OMIM:618590
Spastic Paraplegia 53, Autosomal Recessive	Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia	OMIM:614898
Cockayne Syndrome	Congenital contracture, Abnormal dental morphology, Agenesis of permanent teeth, Contractures of ...	ORPHA:191
Emanuel Syndrome	Broad jaw, Chronic oral candidiasis, Sacral dimple, Congenital hip dislocation, Dental crowding, ...	OMIM:609029
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo...	ORPHA:245
Jacobsen Syndrome	Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Hypertelorism, Abnormal eyelas...	OMIM:147791
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Axi...	OMIM:226730
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Overlapping toe, Short stature, Short neck, Dolichocephaly, C...	OMIM:618571
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Short stature, Depressed nasal ridge, Hypodontia, Delayed puberty, Sha...	ORPHA:1816
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Scoliosis, Spa...	OMIM:617435
Ayme-Gripp Syndrome	Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Short stature, Tapered finger, Wide...	OMIM:601088
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Otitis media, Abnormality of the cer...	ORPHA:353281
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, Prominent nose, High, narrow palate, Deep philtrum, Brachyceph...	OMIM:619950
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Short stature, Hypoplasia of the maxilla, Cleft palate, Cli...	OMIM:614261
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Brachyc...	ORPHA:1236
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Depressed nasal bridge, Kyphosis, Cranial asymmetry,...	OMIM:609128
Pelger-Huet Anomaly	Frontal bossing, Mild short stature, Depressed nasal bridge, Eczema, Abnormality of the dentition...	OMIM:169400
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Joint contr...	OMIM:618914
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Abnormality of the dentition, Postaxial hand polydactyly, Thin verm...	ORPHA:1702
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hernia, Microdontia, Hypoplasia of the fem...	OMIM:607014
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine...	ORPHA:364577
X-Linked Intellectual Disability, Cabezas Type	Short neck, Prominent nose, High palate, Short philtrum, Biparietal narrowing, Short palm, Clinod...	ORPHA:85293
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de...	ORPHA:263508
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru...	ORPHA:952
Poikiloderma With Neutropenia	Joint laxity, Frontal bossing, Depressed nasal bridge, Skin rash, Short stature, Micrognathia, Ca...	OMIM:604173
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp...	ORPHA:1354
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Promine...	ORPHA:2976
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short philtrum, Joint contracture of the 5th finger, Microdontia, Clinodactyly of the...	ORPHA:363611
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste...	OMIM:619718
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Anteverted...	OMIM:252500
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Failure to thrive, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe synd...	ORPHA:485405
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Elbow dislocatio...	OMIM:613805
Rhiny	Inguinal hernia, Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia, Dolicho...	OMIM:619005
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Multiple joint dislocation...	OMIM:245600
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Joint contractur...	ORPHA:1883
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Humero-Radial Synostosis	Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Conju...	OMIM:226600
Ascher Syndrome	Wide nose, Hypertelorism, Abnormal eyelid morphology, Upper eyelid edema, Blepharophimosis, Ptosis	ORPHA:1253
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Prominent nasal b...	ORPHA:401935
Oculocerebrocutaneous Syndrome	Corneal opacity, Hypertelorism, Eyelid coloboma, Iris coloboma, Ptosis	ORPHA:1647
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac j...	ORPHA:2655
Linear Verrucous Nevus Syndrome	Abnormal cornea morphology, Cataract, Iris coloboma	ORPHA:2611
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Omphalocele, Sacral dimple, Inguinal hernia, Thin upper lip vermilion,...	OMIM:247200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Abnorm...	ORPHA:95699
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Microg...	ORPHA:404440
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ...	OMIM:617140
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Wide mouth, Obesity	ORPHA:411515
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fracture...	OMIM:608654
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp...	OMIM:620193
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Mandibular prognathia, Long nose, Flexion contracture, Decreased body weight, Open mouth, Slender...	OMIM:300243
Ring Chromosome 7 Syndrome	Mandibular prognathia, Brachycephaly, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula...	ORPHA:1449
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Short neck, Prominent nose, Brachycephaly, Widely spaced tee...	OMIM:612474
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Uveitis, Reduced bone mineral density, Glossopt...	ORPHA:2108
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ...	OMIM:605130
Hijazi-Reis Syndrome	Astigmatism, Iris coloboma	OMIM:301094
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contracture, Cutaneous finger ...	OMIM:114300
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, High palate, Short philtrum, Clinodactyly of the 5th finger, Anteverted nares, Thor...	OMIM:618443
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Cleft upper lip, Underdeveloped nasal alae, Wi...	ORPHA:894
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Generalized joint laxity, High palate, Abnormality of the cervical spine, Micr...	ORPHA:2953
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po...	ORPHA:79113
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Frontal bossing, Dental crowding, Micrognathia, Spinal rigid...	OMIM:620351
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wid...	OMIM:207410
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Thick nasal alae, Micrognathia, Supernumerary ribs, Short nose, Retrognathia	ORPHA:163961
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Short stature, Cleft upper lip, Brachycephaly, Cleft pal...	OMIM:201180
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
4Q21 Microdeletion Syndrome	Frontal bossing, Toe syndactyly, Depressed nasal bridge, Short neck, Abnormality of the dentition...	ORPHA:238750
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Knee flexion contracture, High...	OMIM:617402
Meier-Gorlin Syndrome 4	Genu recurvatum, Short stature, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick ...	OMIM:613804
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Eosi...	OMIM:613795
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathi...	ORPHA:476126
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Large for gestational ...	ORPHA:77301
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Vocal cord paralysis	OMIM:607641
Melorheostosis	Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit...	ORPHA:2485
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing...	OMIM:619951
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, High p...	ORPHA:958
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Inguinal hernia, Short stature, Frontal open bite, Micrognathia, Delaye...	OMIM:225410
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me...	ORPHA:353277
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Frontal bossing, Congenital hip dislocation, Dolichocephaly, Wide anter...	ORPHA:457279
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, D...	OMIM:614744
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,...	ORPHA:2062
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Wide nasal bridge, Aniridia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo...	OMIM:269150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Scarring, Craniosynostosis, Oral mucosal blisters, Growth delay, Atrop...	ORPHA:79396
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Anteverted nares, Corneal opacity, Hypertelorism, Keratitis, Synophrys, Wide nasal bridge, Conjun...	OMIM:602562
Alg9-Cdg	Micrognathia, Short neck, Brachycephaly, Narrow greater sciatic notch, Abnormal bone ossification...	ORPHA:79328
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Severe short stature, Short stature, Short neck, Kyph...	OMIM:309900
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Hemochromatosis, Type 4	Osteoarthritis	OMIM:606069
Holoprosencephaly	Synophrys, Depressed nasal ridge, Hypotelorism, Deeply set eye, Absent nares, Chorioretinal colob...	ORPHA:2162
Galloway-Mowat Syndrome 5	Mandibular prognathia	OMIM:617731
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of...	OMIM:101400
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Short stature, Prominent nasal bridge, Proximal placement of thumb, Microgn...	ORPHA:251071
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface...	ORPHA:93258
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Narrow gre...	OMIM:312870
Mosaic Variegated Aneuploidy Syndrome 2	Frontal bossing, Small for gestational age, Depressed nasal bridge, Craniosynostosis, Micrognathi...	OMIM:614114
Desmosterolosis	Frontal bossing, Failure to thrive, Increased bone mineral density, Depressed nasal bridge, Sever...	ORPHA:35107
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Anteverted nares, Proboscis, Hypertelorism, Sparse eyebrow, Promine...	OMIM:605627
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Lacrimation abnormality	ORPHA:1135
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Frontal bossing, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Pr...	ORPHA:261211
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Hyperextensibility of the finger joints, Mandibular prognathia, Dolich...	OMIM:135500
Rabin-Pappas Syndrome	Mandibular prognathia, Failure to thrive in infancy, Micrognathia, Broad nasal tip, Obesity, Wide...	OMIM:620155
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Short stature, Small for gestational age, High palate, Advanced eruption o...	OMIM:262190
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate,...	ORPHA:798
Curry-Jones Syndrome	Optic disc coloboma, Iris coloboma, Hypertelorism	ORPHA:1553
Proteus-Like Syndrome	Mandibular prognathia, Anteverted nares, Genu recurvatum, Open bite, Hyperostosis, Dolichocephaly...	ORPHA:2969
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Micrognathia, Posterior plagiocephaly, Short phil...	OMIM:619841
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Narrow nasal bridge, Sandal gap, Anteverted nares, Craniosynostosi...	ORPHA:254346
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Postnatal growth retardation, Clinod...	ORPHA:251061
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bo...	OMIM:616462
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Nasolacrimal duct obstruction, Developmental catar...	OMIM:612109
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Irregular dentition, Short stature, Micrognathia, Hypoplasia of the maxil...	ORPHA:314679
Marfan Syndrome	Genu recurvatum, Dental crowding, Equinus calcaneus, Micrognathia, Incisional hernia, Flexion con...	OMIM:154700
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin...	OMIM:241310
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Anteverted nares, Delayed closure of ...	ORPHA:357074
Atelosteogenesis Type Ii	Cervical kyphosis, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of finger, Hypo...	ORPHA:56304
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of th...	ORPHA:371428
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Inguinal hernia, Phalangeal dislocation, ...	ORPHA:287
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Micrognathia, Short neck, Long fingers, High, narrow palate, Abnormality of den...	ORPHA:96092
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Thin upper lip vermilion, Short stature, Osteoarthritis, Wide nasal bridge...	OMIM:619714
2Q31.1 Microdeletion Syndrome	Epicanthus, Hypertelorism, Synophrys, Bulbous nose, Optic disc coloboma, Coloboma, Proptosis, Dow...	ORPHA:251014
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short...	ORPHA:1865
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Arachnodactyly, Micrognathia, Thin calvarium, Short nose, Midface retrusion, Del...	ORPHA:1129
Dermoodontodysplasia	Mandibular prognathia, Tooth agenesis, Microdontia	ORPHA:1660
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Microgn...	ORPHA:1908
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Brachycephaly, Point...	OMIM:618828
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Depressed nasal ...	ORPHA:1812
Lateral Meningocele Syndrome	Dental crowding, Short neck, Micrognathia, High palate, Long philtrum, Vertebral fusion, Short st...	OMIM:130720
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Frontal bossing, Joint laxity, Arachnodactyly, Prominent nasal bridge, Hyp...	OMIM:617011
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, Juvenile rhe...	OMIM:607944
Variegate Porphyria	Paralysis	OMIM:176200
Joubert Syndrome With Renal Defect	Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Iris coloboma, Ptosis	ORPHA:220497
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Broad na...	ORPHA:438216
Joubert Syndrome With Ocular Defect	Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Retinal coloboma, Iris coloboma,...	ORPHA:220493
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal vertebra...	ORPHA:217085
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma	Mandibular prognathia, Periostosis	OMIM:102100
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Broad nasal tip, Kyphosis, Osteoporosis, Scoliosis, C...	OMIM:617190
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco...	ORPHA:1946
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Short stature, Absent pubertal growth spurt, Ataxia, Kyphosis, Hip disloca...	ORPHA:464282
Zika Virus Disease	Lens subluxation, Conjunctivitis, Iris coloboma, Chorioretinal atrophy	ORPHA:448237
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent upper res...	OMIM:619752
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o...	OMIM:620370
Glycoprotein Storage Disease	Gout	OMIM:232900
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Platyste...	OMIM:618774
Distal Deletion 13Q	Iris coloboma, Hypertelorism	ORPHA:1590
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections...	OMIM:614069
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia, Kyphoscoliosis	ORPHA:466722
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Frontal bossing, Arachnodactyly, Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder ...	ORPHA:2181
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Highly arched eyebrow, Hypertelorism, Synophrys, Anosmia, Blepharophimosis, Thick eyebrow, Ptosis	ORPHA:2057
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ...	ORPHA:521445
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Omphalocele, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Anteve...	OMIM:618316
Joubert Syndrome	Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Iris coloboma, Ptosis	ORPHA:475
Omodysplasia 1	Micrognathia, Short neck, Limited elbow flexion, Short tibia, Increased fibular diameter, Depress...	OMIM:258315
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Short stature	ORPHA:2786
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Kilquist Syndrome	Mandibular prognathia, Choanal atresia, Coxa valga, Broad chin, 2-3 toe syndactyly, Hypoplasia of...	OMIM:619080
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal vertebra...	ORPHA:217093
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Inguinal hernia, Brachycephaly, Wide mouth, Growth delay, Thick vermilion ...	ORPHA:85290
Lateral Meningocele Syndrome	Epicanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Iris coloboma, Ptosis	ORPHA:2789
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Short stature, Cleft upper lip, Hypoplasia ...	OMIM:610829
Hydroa Vacciniforme	Epiphora	ORPHA:330058
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Parkinsonism, Paralysis	OMIM:105500
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Abnormal ...	ORPHA:818
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Prominent nasal bridge, Choanal atresia, Optic disc coloboma, Downslanted palpebral fissures, Iri...	OMIM:300472
Down Syndrome	Joint laxity, Sandal gap, Depressed nasal bridge, Short neck, Protruding tongue, Abnormality of t...	ORPHA:870
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Prader-Willi Syndrome Due To Translocation	Flat occiput, Micrognathia, Short neck, Prominent nose, Downturned corners of mouth, High palate,...	ORPHA:177907
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the...	ORPHA:1295
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Abnormal size of the palpebral fissures, Microcornea, Anterior synechiae of the anterior chamber,...	ORPHA:3214
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Metopic synostosis, Long philtrum, Trigonocep...	OMIM:300581
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Micrognathia, Absent thumb, Aplasia/Hypoplas...	ORPHA:1234
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Microdontia, Abnormali...	ORPHA:285
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, 2-3 toe syndactyly, Downturne...	OMIM:613443
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Short stature, Short philtrum, Joint contracture, Failure to thrive, Midfa...	OMIM:617864
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Depressed nasal bridge, Acne, Broad nasal tip...	ORPHA:2804
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Pseudohypoaldosteronism Type 2	Growth delay, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micrognathia, Wide nasal bridge, Short long bone,...	OMIM:224410
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micr...	ORPHA:536532
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, Short neck, High, narrow palate, Congenital diaphragma...	OMIM:122470
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho...	OMIM:613458
Immunodeficiency 61	Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis	OMIM:300310
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Short philtrum, Conjunctivitis, Chronic otiti...	OMIM:616268
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Frontal bossing, Chronic oral candidiasis, Psoriasiform dermatitis, Anteverted nares,...	ORPHA:221139
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d...	OMIM:619656
Kleefstra Syndrome 2	Kyphosis, Plagiocephaly, Growth delay, Everted lower lip vermilion, Scoliosis, Midface retrusion,...	OMIM:617768
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint contracture, Joint laxity, Short stature, Increased susceptibility to fractures...	OMIM:615349
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnatal growth ...	OMIM:302960
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Anteverted nares, Ovoid vertebral bodies, D...	OMIM:244450
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Abnormal joint morphology, Limitati...	ORPHA:47612
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teet...	OMIM:253220
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Dolichocephaly, Hypoplasia of th...	ORPHA:1101
Trisomy 10P	Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Abnormal hip joint morphology, Antever...	ORPHA:171929
Sandhoff Disease	Kyphosis, Ataxia	ORPHA:796
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Flat occiput, Short neck, High, narrow palate, Prominent protruding coccyx, Chronic o...	OMIM:300966
Meier-Gorlin Syndrome 6	Microretrognathia, Frontal bossing, Severe short stature, Sandal gap, Small for gestational age, ...	OMIM:616835
Autosomal Recessive Spastic Paraplegia Type 53	Upper limb hypertonia, Kyphosis, Clonus	ORPHA:319199
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
Classic Progressive Supranuclear Palsy Syndrome	Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slurred speech...	ORPHA:240071
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Brachycephaly, Cleft pal...	OMIM:603116
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Aplasia/Hypop...	ORPHA:2256
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Cartilage-Hair Hypoplasia	Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Abnormal form of ...	ORPHA:175
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Long philtrum, Microretrognathia, Tapered ...	ORPHA:459070
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis	ORPHA:1875
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipodystrophy, Micrognathia, Kypho...	OMIM:615381
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis	OMIM:617105
Noonan Syndrome 1	Failure to thrive in infancy, Short stature, Kyphoscoliosis, Micrognathia, Short neck, High, narr...	OMIM:163950
Holoprosencephaly 7	Flat nasal alae, Hypertelorism, Synophrys, Absent nasal septal cartilage, Wide nasal bridge, Hypo...	OMIM:610828
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Spastic tetraplegia, Intrauterine growth retardation	OMIM:618237
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Short stature, Recurrent fractures, Abnormal dental ena...	ORPHA:251004
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short neck, Micro...	OMIM:257300
15Q14 Microdeletion Syndrome	Inguinal hernia, Acne, Prominent nasal bridge, Short stature, Abnormality of the dentition, Kypho...	ORPHA:261190
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Short stature, Tapered finger, Abnormality of the dentition, Large ...	ORPHA:261652
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Premature loss...	ORPHA:99843
Congenital Generalized Lipodystrophy	Mandibular prognathia, Lipodystrophy, Adipose tissue loss, Bone cyst, Macroglossia, Failure to th...	ORPHA:528
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Short stature, High palate, P...	OMIM:300558
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s...	ORPHA:793
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro...	OMIM:106300
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Prom...	ORPHA:1272
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Short stature, Recurrent fractures, Kyphoscoliosis, Abno...	OMIM:163200
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Short stature, Prominent nasal bridge, Mic...	ORPHA:85201
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Metatarsus adductus, Hypopla...	ORPHA:293939
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C...	ORPHA:904
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Wide nasal bridge, Osteopetrosis, Abnormal met...	ORPHA:1522
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Short stature, Prominent nasal bridge, Craniosynostosis, Broad nasal ti...	OMIM:618050
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Bronchiectasis, Joint hypermobility	OMIM:620080
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Frontal bossing, Sacral dimple, Toe syndactyly, Wide nose, Camptodactyly o...	ORPHA:261337
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur...	OMIM:239000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Babinski sign, Vocal cord paralysis, Hand tremor, Increased laxity of ankles, Po...	ORPHA:99947
Hypomandibular Faciocranial Dysostosis	Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachyce...	ORPHA:1790
Lelis Syndrome	Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion	ORPHA:140936
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Wide nose, Corneal opacity, Cataract, Hypertelorism, Abnormal ey...	ORPHA:2399
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Brachycep...	ORPHA:261112
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short stature, Convex nasal ridge, Abnormal fingertip morphology, Micrognathia, Abnormality of th...	ORPHA:90154
Developmental And Epileptic Encephalopathy 93	Iris coloboma	OMIM:618012
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Lip...	OMIM:616914
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Short stature, Micrognathia, Pierre-Robin seq...	ORPHA:1358
Xylt1-Cdg	Joint dislocation, Joint laxity, Acne, Short stature, Coxa valga, Flared metaphysis, Cleft palate...	ORPHA:370930
Nicolaides-Baraitser Syndrome	Enlarged joints, Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interph...	OMIM:601358
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Paralysis	OMIM:300857
Monosomy 22Q13.3	Sacral dimple, Dental crowding, Recurrent skin infections, Bulbous nose, Dental malocclusion, Obe...	ORPHA:48652
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial...	OMIM:304120
Limbal Stem Cell Deficiency	Blepharospasm, Lacrimation abnormality, Epiphora	ORPHA:171673
Triple A Syndrome	Iris coloboma	ORPHA:869
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Turricephaly, Wormian bones, Cleft soft palate, Craniosyno...	OMIM:604757
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Short neck, Kyphosis, Genu valgum, Scoliosis	OMIM:252605
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Syndactyly, Short stature, Acromicria, Osteo...	OMIM:176270
Duane-Radial Ray Syndrome	Epicanthus, Abnormal nasopharynx morphology, Cataract, Choanal atresia, Hypertelorism, Choanal st...	OMIM:607323
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, H...	ORPHA:373
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Macroglossia, Severe po...	OMIM:613038
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Depressed nasal bridge, Narrow nasal...	OMIM:275210
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal columella morphology, Downslanted palpebral fissures, Iris coloboma, Underdeveloped nasa...	ORPHA:436003
Atypical Rett Syndrome	Involuntary movements, Tremor, Kyphosis, Limb myoclonus, Gait ataxia, Growth delay, Pill-rolling ...	ORPHA:3095
Silver-Russell Syndrome 3	Syndactyly, Frontal bossing, Small for gestational age, Elbow contracture, Short stature, Postnat...	OMIM:616489
Monosomy 13Q14	Epicanthus, Cataract, Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Iris coloboma, Pt...	ORPHA:1587
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age, Short stature	OMIM:245570
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Kyphosis, High, narrow palate, Split hand, Obesity, Scoliosis	OMIM:618124
2P15P16.1 Microdeletion Syndrome	Brachycephaly, High palate, Prominent metopic ridge, Tapered finger, Wide nasal bridge, Scoliosis...	ORPHA:261349
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Wide nasal bridge, Short philt...	OMIM:601499
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Mi...	OMIM:615873
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Psoriasiform dermatitis, Enterocolitis, Interface hepatitis, Intrauterine growth ret...	OMIM:243150
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Microdontia, Clinodactyly of the 5th finger, Joint laxity, Antev...	OMIM:194050
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Wide nose, Dental crowding, Anteverte...	ORPHA:769
Mycophenolate Mofetil Embryopathy	Hypertelorism, Eyelid coloboma, Bifid nose, Chorioretinal coloboma, Iris coloboma	ORPHA:268249
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium	ORPHA:220393
Leopard Syndrome 1	Mandibular prognathia, Short stature, Kyphoscoliosis, Short neck, Missing ribs, Limited elbow mov...	OMIM:151100
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Congenital diaphragmatic hernia, Microgna...	OMIM:601803
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Short s...	ORPHA:2834
Orofaciodigital Syndrome Iii	Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue nodules, Postaxia...	OMIM:258850
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Midface retrusion, Flat occiput, Overlapping toe, Cloverleaf skull, Craniosynostosis...	OMIM:123790
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Brachycephaly, Oligodontia, High palate, Short philtrum, Depre...	OMIM:309590
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Thanatophoric Dysplasia, Type I	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Sh...	OMIM:187600
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Postnatal ...	OMIM:300963
Paganini-Miozzo Syndrome	Mandibular prognathia, Malar flattening, Thin vermilion border, Downturned corners of mouth	OMIM:301025
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Dow...	ORPHA:531151
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate...	OMIM:268305
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Short neck, Cleft upper lip, Rib fusion, Hemivertebrae, Cleft palate, B...	ORPHA:1394
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Gingival overgrowt...	OMIM:619179
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Short stature, Micrognathia, Abno...	ORPHA:85276
Micro Syndrome	Anteverted nares, Short stature, Micrognathia, Joint stiffness, Kyphosis, Wide nasal bridge, High...	ORPHA:2510
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Biparieta...	ORPHA:228396
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Underdeveloped nasal alae, Kyphosis, Deep philtrum, Bifid nasal tip, G...	OMIM:616455
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Hypoplasia of teeth, Growth delay, Keratoconjunctivitis sicca, Short nose, Retr...	OMIM:234050
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K...	OMIM:240300
Mend Syndrome	Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Micrognathia, Asymmetry of ...	ORPHA:401973
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Metaphyseal widening, Craniofacia...	OMIM:618476
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bow...	OMIM:617022
Typical Nemaline Myopathy	Micrognathia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Hip dislocation, Flexion cont...	ORPHA:171436
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Prominent nasal bridge, Micrognathia, Broad nasal tip, Postnatal growth retardatio...	OMIM:300749
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Clubbing, Osteoporo...	OMIM:259100
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Anteverted nares, Depressed nasal bridge, Cataract, Low...	OMIM:181270
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Hypertelorism, Upper eyelid coloboma...	OMIM:613456
Kapur-Toriello Syndrome	Bulbous nose, Retinal coloboma, Iris coloboma	ORPHA:2328
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Carious teeth, Kyphosis, Flexion contracture, Keratoconjunctiv...	ORPHA:90324
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Flat occiput, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth	ORPHA:411511
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flatt...	OMIM:616420
Triploidy	Cataract, Iris coloboma, Hypertelorism	ORPHA:3376
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi...	ORPHA:46059
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Short stature, Prea...	OMIM:610536
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Prominent nasal bridge...	ORPHA:457359
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Aplasia of the ulna, Micrognathia, Short neck, Abnormal ...	ORPHA:2879
Pitt-Hopkins Syndrome	Short neck, Short metatarsal, Finger clinodactyly, Short philtrum, Anteverted nares, Tapered fing...	ORPHA:2896
Sweeney-Cox Syndrome	Flat occiput, Micrognathia, Brachycephaly, High palate, Short philtrum, 2-5 toe syndactyly, Media...	OMIM:617746
Toluene Embryopathy	Short stature, Micrognathia, Tapered finger, Thin vermilion border, Hypoplasia of the zygomatic b...	ORPHA:1920
Arthrogryposis, Distal, Type 5	Arachnodactyly, Short stature, Limited wrist extension, Kyphosis, Absent phalangeal crease, Dista...	OMIM:108145
Activated Pi3K-Delta Syndrome	Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato...	ORPHA:397596
Axenfeld-Rieger Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Growth delay, Everted lower...	ORPHA:782
Vernal Keratoconjunctivitis	Lacrimation abnormality	ORPHA:70476
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Prominent nose, Prominent...	OMIM:305450
Kapur-Toriello Syndrome	Cataract, Bulbous nose, Retinal coloboma, Iris coloboma, Low hanging columella	OMIM:244300
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Cloverleaf skull, Depressed nasal bridge...	ORPHA:93259
Joubert Syndrome With Hepatic Defect	Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Optic disc coloboma, Chorioretin...	ORPHA:1454
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Short stature, Micrognathia, Growth delay, Multiple lipomas, High palate, ...	OMIM:617675
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, Hypo...	OMIM:223370
Cerebral Creatine Deficiency Syndrome 1	Mandibular prognathia, Short stature, Malar flattening, Failure to thrive, Midface retrusion, Joi...	OMIM:300352
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Cli...	OMIM:608747
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Anteverted nares, Down-sloping shoulders, Prominent nasal bri...	ORPHA:1974
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Bulbous nose, Wide nasal bridge, Deeply set eye, Iris coloboma	ORPHA:250989
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos...	OMIM:618484
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Short neck, Short metatarsal, Brachycephaly, High palate, Short metacarpal, Ante...	OMIM:617157
Dyskeratosis Congenita, Autosomal Recessive 6	Intrauterine growth retardation, Ataxia, Epiphora	OMIM:616353
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Bulbous nose, Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma	OMIM:615219
Martin-Probst Syndrome	Short stature, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, W...	OMIM:300519
Primrose Syndrome	Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flexion contracture, Downturn...	OMIM:259050
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Eczema, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth ...	OMIM:619751
Blepharonasofacial Malformation Syndrome	Lacrimation abnormality	ORPHA:1252
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Protruding tongue, Micrognathia, ...	OMIM:242860
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Cleft palate, Short...	OMIM:614749
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Short stature, Micrognathia, Narrow...	OMIM:309500
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio...	OMIM:254090
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, 2-3 toe synd...	OMIM:106260
Hurler-Scheie Syndrome	Inguinal hernia, Depressed nasal bridge, Camptodactyly of finger, Short stature, Micrognathia, Jo...	OMIM:607015
Pallister-Hall Syndrome	Hemivertebrae, Syndactyly, Mesoaxial foot polydactyly, Anteverted nares, Depressed nasal bridge, ...	OMIM:146510
Peho Syndrome	Tented upper lip vermilion, Tapered finger, Open mouth, Retrognathia, Short nose	OMIM:260565
Acro-Renal-Ocular Syndrome	Epicanthus, Cataract, Hypertelorism, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal co...	ORPHA:959
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Sandal gap, Congenital diaphragmatic hernia, Long philtrum, Short nose, Short chin	OMIM:300887
Desmosterolosis	Frontal bossing, Failure to thrive, Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micro...	OMIM:602398
4H Leukodystrophy	Delayed eruption of teeth, Short stature, Abnormality of the dentition, Hypodontia, Delayed puberty	ORPHA:289494
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Metatarsus adductus, Avascul...	ORPHA:2557
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Prominent metopic r...	OMIM:610443
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ...	ORPHA:1826
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Sclerosing cholangitis, Enamel hypoplasia, Hypodontia, Oligodontia	OMIM:607626
Alkuraya-Kucinskas Syndrome	Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Pl...	OMIM:617822
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Short philtrum, Chronic otitis media, Arachnodactyly, Abnormal dental e...	ORPHA:567
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Oral ulcer, Synovitis, Arthritis, Serositis	ORPHA:567544
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Trisomy 18	Epicanthus, Cataract, Choanal atresia, Hypertelorism, Microcornea, Blepharophimosis, Cyclopia, Ir...	ORPHA:3380
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Dolichocephaly, Tapered finger	OMIM:618512
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Short stature, Wide mouth, Widely spaced primary teeth, Intrauterine growt...	OMIM:300953
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t...	OMIM:617865
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Recurr...	ORPHA:47
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Short stature, Tapered finger, Seborrheic derm...	OMIM:301072
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Kyphosis, Brachycephaly, Plagiocephaly, High palate, Short philtrum,...	OMIM:615433
Jacobsen Syndrome	Epicanthus, Ectropion, Anteverted nares, Cataract, Hypertelorism, Iris coloboma, Wide nasal bridg...	ORPHA:2308
Coffin-Siris Syndrome	Clinodactyly, Hernia, Aspiration pneumonia, Thick nasal alae, Joint laxity, Anteverted nares, Dep...	ORPHA:1465
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, High palate, Choanal st...	OMIM:218600
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Ocular anterior segment dysgenesis, Iris coloboma	OMIM:601427
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima...	ORPHA:667
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Wi...	OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Prominent nose, Long nose, Shor...	OMIM:300486
Gm1 Gangliosidosis Type 1	Frontal bossing, Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Gingival overgrowth, Hy...	ORPHA:79255
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna...	ORPHA:521426
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Recurrent otitis media, Widely s...	ORPHA:2728
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Short nose	OMIM:617802
Bannayan-Riley-Ruvalcaba Syndrome	Frontal bossing, Wide nose, Anteverted nares, Short stature, Cachexia, Micrognathia, Dolichocepha...	ORPHA:109
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Short stature, Hip dislocation, Growth delay, Oligodontia...	OMIM:614381
Peho Syndrome	Anteverted nares, Tapered finger, Flexion contracture, Short nose, Gingival overgrowth, Limitatio...	ORPHA:2836
Kindler Epidermolysis Bullosa	Finger syndactyly, Turricephaly, Recurrent skin infections, Abnormal dental enamel morphology, Ca...	ORPHA:2908
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Sacral dimple, Thin upper lip vermilion, Hyperextensibility at el...	ORPHA:319182
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Scoliosis	OMIM:609541
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Short stature, Abnormality of the nose, Uveitis...	ORPHA:575
Marinesco-Sjogren Syndrome	Short stature, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Cubitus valgus, Spasticity	OMIM:248800
Pfapa Syndrome	Recurrent pharyngitis, Weight loss, Arthritis, Abnormal oral cavity morphology, Infectious enceph...	ORPHA:42642
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Osteopenia, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Ca...	ORPHA:811
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Fetal Valproate Spectrum Disorder	Omphalocele, Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion bor...	ORPHA:1906
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligod...	ORPHA:2044
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont...	ORPHA:314588
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Small hand, Osteoporosi...	ORPHA:2796
Sydenham Chorea	Movement abnormality of the tongue, Septic arthritis, Endocarditis	ORPHA:306731
Thanatophoric Dysplasia Type 2	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Short stature, Kyphosis, Limitation of...	ORPHA:93274
16Q24.3 Microdeletion Syndrome	Frontal bossing, Anteverted nares, Proximal placement of thumb, Micrognathia, Kyphosis, Wide mout...	ORPHA:261250
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Inguinal hernia, Short femur, Anteverted nares, Metaphyseal spurs, D...	OMIM:618188
Neuroocular Syndrome	Synophrys, Lens coloboma, Microcornea, Deeply set eye, Iris coloboma, Hooded upper eyelid, Highly...	OMIM:619539
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Short neck, Brachycephaly, Posterior plagiocephaly, High palate, Bifid uvu...	OMIM:620330
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Osteoporosis, Scoliosis	OMIM:618234
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Frontal bossing, Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decr...	OMIM:617306
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Eczema	OMIM:272300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers...	OMIM:617527
3Mc Syndrome 1	Omphalocele, Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Cleft...	OMIM:257920
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly	OMIM:616459
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of extrapyramidal motor funct...	ORPHA:500180
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Geleophysic Dysplasia 1	Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Short stature, Coxa valga, Joi...	OMIM:231050
Dyskeratosis Congenita	Short stature, Recurrent fractures, Abnormality of the dentition, Hypoplasia of the maxilla, Cari...	ORPHA:1775
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Abnormal fing...	ORPHA:79404
Alagille Syndrome	Hypoplasia of the ulna, Failure to thrive, Frontal bossing, Micrognathia, Long nose, Abnormal rib...	ORPHA:52
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Short stature, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the den...	ORPHA:3220
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Epicanthus, Depressed nasal bridge, Choanal atresia, Hypertelorism, Sparse eyebrow, Underdevelope...	OMIM:620186
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth,...	ORPHA:72
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout...	OMIM:601353
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the knee, Abnormality of the temporomandibular joint, Psoriasif...	ORPHA:85436
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Abnormality of the knee, Limited wrist extension, High palate, Scoliosis, ...	ORPHA:98915
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Pariet...	OMIM:264090
Majeed Syndrome	Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Cachex...	ORPHA:77297
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Orofacial ...	ORPHA:65286
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Dental malocclusion, Ano...	OMIM:603457
Brachydactyly, Type E1	Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Multiple impacted ...	OMIM:113300
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Horizontal r...	ORPHA:3003
Schimke Immuno-Osseous Dysplasia	Short neck, Microdontia, Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Minimal cha...	ORPHA:1830
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Graft Versus Host Disease	Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Limited elbow movement, Acute hepatiti...	ORPHA:39812
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Short stature, Recu...	ORPHA:355
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Convex nasal ridge, Patchy ost...	OMIM:241410
Usher Syndrome Type 2	Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:231178
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit...	ORPHA:2753
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Eunuchoid habitus, Wide nose, Cleft ala nasi, Narrow nasal base, Hypoplasi...	ORPHA:3044
Kbg Syndrome	Tented upper lip vermilion, Short neck, Brachycephaly, Widely-spaced maxillary central incisors, ...	OMIM:148050
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Glomerulonephritis, Recurrent skin in...	ORPHA:79408
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Short philtrum, Abnormal bone...	ORPHA:79324
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Wide nose, Short stature, Micrognathia, Short neck, Protruding tongue, Growth ...	OMIM:608779
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Short stature...	OMIM:614091
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Missing ribs, Short statur...	OMIM:619859
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Joint laxity, Recurrent otitis media, Scoliosis	ORPHA:449291
Tetraamelia-Multiple Malformations Syndrome	Microcornea, Aplasia/Hypoplasia involving the nose, Cataract, Iris coloboma	ORPHA:3301
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ...	ORPHA:93325
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Laryngotracheomalaci...	OMIM:618454
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology	ORPHA:2238
Meckel Syndrome, Type 8	Cleft upper lip, Short neck, Depressed nasal ridge, Cleft palate, Polydactyly, Short nose	OMIM:613885
Khan-Khan-Katsanis Syndrome	Frontal bossing, Sacral dimple, Tented upper lip vermilion, Short stature, Postaxial polydactyly,...	OMIM:618460
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Submucous...	OMIM:619103
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Tented upper lip vermilion, Broad hallux, Anteverted nares, Depressed nasal brid...	OMIM:614105
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Oral ulcer, Arthritis, Recurrent otitis media, Ma...	OMIM:620321
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth...	OMIM:194190
Toriello-Carey Syndrome	Short stature, Micrognathia, Short neck, Wide anterior fontanel, Postnatal growth retardation, Sh...	ORPHA:3338
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
C Syndrome	Joint dislocation, Congenital diaphragmatic hernia, Micrognathia, Short neck, High palate, Bipari...	ORPHA:1308
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Thoracic scoliosis, Knee contracture, High palate, Joint contracture, Join...	OMIM:620278
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Plagiocephaly, Pansynostosis, Duplicati...	OMIM:180750
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Sialidosis Type 2	Inguinal hernia, Short stature, Kyphosis, Flexion contracture, Osteoporosis, Umbilical hernia	ORPHA:87876
Fraser Syndrome	Omphalocele, Finger syndactyly, Toe syndactyly, Dental crowding, Cleft ala nasi, Depressed nasal ...	ORPHA:2052
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Lathosterolosis	Toe syndactyly, Anteverted nares, Lumbosacral meningocele, Micrognathia, Postaxial hand polydacty...	OMIM:607330
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Short femur, Dental crowd...	OMIM:300990
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Patellar...	ORPHA:477
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Clinodactyly of ...	ORPHA:96182
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Mi...	ORPHA:314655
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hypoplastic ischia, Micrognathia, Knee flexion contracture, Oligodontia, High palate, Clinodactyl...	OMIM:210730
Tetrasomy 9P	Joint dislocation, Myositis, Dental crowding, Micrognathia, Short neck, Downturned corners of mou...	ORPHA:3310
Distal Deletion 9P	Short neck, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, H...	ORPHA:1642
Cardiofaciocutaneous Syndrome	Frontal bossing, Failure to thrive in infancy, Abnormal morphology of ulna, Anteverted nares, Sho...	ORPHA:1340
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Kyphoscoliosis, Short neck, Tapered finger, Underdeveloped nasal alae, ...	OMIM:615803
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Short stature, Ataxia, Hyperlordosis, Tremor, Chorea, Athetosis, Hyperkinetic mov...	OMIM:615356
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ...	OMIM:135900
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosi...	ORPHA:1724
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Short stature, Cranial hyperostosis, Oligodontia, Hypodontia	OMIM:601345
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill...	ORPHA:306542
Baralle-Macken Syndrome	Kyphosis, Obesity, High, narrow palate, Tapered finger	OMIM:619255
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Malar flattening, Short ...	ORPHA:2835
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Chromosome 17Q12 Deletion Syndrome	Long toe, Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Short stature, Microgna...	OMIM:614527
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Lumbar hyperlordosis, Depressed nasal bridge, Rhizomelia, Severe short stature, ...	OMIM:616482
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Brachycep...	ORPHA:3103
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Prominent metopic ridge, Depressed nasal bridge, Proportionate short stature, Mi...	OMIM:613457
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal...	ORPHA:198
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Rocker bottom foot, Femoral hernia, Coxa valga, Avascular necros...	ORPHA:3342
Proteus Syndrome	Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger...	ORPHA:744
Pelvis-Shoulder Dysplasia	Microcornea, Retinal coloboma, Iris coloboma, Short palpebral fissure	ORPHA:2839
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:2136
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Wide nose, Cleft ala nasi, Dental crowding, Depressed nasal brid...	OMIM:219000
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing...	OMIM:117650
White-Sutton Syndrome	Depressed nasal bridge, Broad nasal tip, Hypertelorism, Astigmatism, Iris coloboma	ORPHA:468678
Immunodeficiency 9	Stomatitis, Failure to thrive, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Flexion contracture, Wide nasal bridge, Thin vermilion ...	OMIM:610015
Melioidosis	Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Abnormal pa...	ORPHA:31202
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Short stature, Abnormality of the dentition, Underdeveloped nasal alae...	ORPHA:2315
Cat Eye Syndrome	Epicanthus, Hypertelorism, Chorioretinal coloboma, Downslanted palpebral fissures, Iris coloboma	OMIM:115470
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Abnormal denta...	ORPHA:1896
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly, Non-midline ...	ORPHA:2075
Corneodermatoosseous Syndrome	Severe short stature, Abnormal dental enamel morphology, Carious teeth, Abnormal finger morpholog...	ORPHA:3194
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,...	OMIM:263650
Walker-Warburg Syndrome	Cataract, Corneal opacity, Chorioretinal dysplasia, Microcornea, Iris coloboma	ORPHA:899
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Depressed nasal bridge, Hypertelorism, Narrow naris, Short nose, Downslanted palpebr...	OMIM:122880
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo...	ORPHA:392
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Polydactyly, Intrauterine growth retardation, Short nose, Hypoplastic ischia	OMIM:616910
Isolated Ectopia Lentis	Mandibular prognathia, Malar flattening, Joint stiffness	ORPHA:1885
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Conjunctivitis, Abnormal vertebral morphology, Abnormal dental enamel morphology, Scleri...	ORPHA:2273
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin l...	OMIM:619194
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98795
Tetrasomy 18P	Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Autosomal Recessive Ataxia, Beauce Type	Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clumsiness, Ankle clonus, Fasc...	ORPHA:88644
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Gm1-Gangliosidosis, Type I	Frontal bossing, Inguinal hernia, Thickened ribs, Severe short stature, Short neck, Joint stiffne...	OMIM:230500
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Epiphora	ORPHA:98957
Macrocephaly-Intellectual Disability-Autism Syndrome	Frontal bossing, Depressed nasal bridge, Preaxial hand polydactyly, Multiple lipomas, Foot polyda...	ORPHA:210548
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Small for gestational age, Pneumonia, Glomerulonep...	ORPHA:1304
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Short neck, Bulbous nose, Incr...	OMIM:609460
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Membranoproliferative glomerulonephri...	OMIM:137940
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, High palate, Short philtrum, Depres...	OMIM:619127
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, Dolichocephaly, L...	ORPHA:357001
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper lip, Hiatus hernia, Smal...	ORPHA:50
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Short neck, Deep philtrum, Short philtrum, High palate,...	OMIM:300855
Wiedemann-Rautenstrauch Syndrome	Thickened calvaria, Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short ...	ORPHA:3455
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue, High palate, Sco...	OMIM:615108
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Wide nasal bridge, Fused teeth, High palate, Shor...	OMIM:300896
Idiopathic Camptocormia	Myositis, Abnormal intervertebral disk morphology, Osteoarthritis, Spinal canal stenosis, Abnorma...	ORPHA:1320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Failure to thrive secondary to recurrent...	OMIM:601457
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Brachycephaly, Irregular vertebral endplates, Posterior scalloping of vertebral bodie...	OMIM:610442
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Coxa vara...	OMIM:601344
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Hashimoto thyroiditis	ORPHA:83601
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Omphalocele, Inguinal hernia, Joint laxity, Overlapping toe, Exaggerated cupid's bow, A...	ORPHA:254528
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Short philtrum, Open mouth, Short nose	ORPHA:228384
Adnp Syndrome	Abnormal finger morphology, Brachycephaly, Advanced eruption of teeth, Joint laxity, Broad hallux...	ORPHA:404448
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Natal tooth, Sandal gap, Bilateral cleft lip, Postaxial polydact...	OMIM:612651
Distal Deletion 12Q	Micrognathia, Short neck, High, narrow palate, Brachycephaly, Aplasia/Hypoplasia of the middle ph...	ORPHA:96149
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Hypohidrotic Ectodermal Dysplasia	Frontal bossing, Sinusitis, Abnormal dental morphology, Anteverted nares, Eczema, Abnormality of ...	ORPHA:238468
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis	OMIM:162500
Trichothiodystrophy 3, Photosensitive	Eclabion, Natal tooth, Short stature, Carious teeth, Trigonocephaly, Intrauterine growth retardat...	OMIM:616395
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul...	ORPHA:500150
Prolidase Deficiency	Depressed nasal bridge, Eczema, Micrognathia, Recurrent pneumonia, Crusting erythematous dermatit...	OMIM:170100
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragmatic hernia, Brachycep...	ORPHA:199
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short long bone, Vertebral segmentation defect, Vertebral fusion	OMIM:618845
Dermotrichic Syndrome	Frontal bossing, Depressed nasal bridge, Proportionate short stature, Short nose, Abnormal verteb...	ORPHA:99688
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Frontal bossing, Anteverted nares, Depressed nasal bri...	ORPHA:254519
Osteopetrosis With Renal Tubular Acidosis	Thickened calvaria, Failure to thrive, Short stature, Recurrent fractures, Persistence of primary...	ORPHA:2785
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Flat occiput, Limitation of joint mobility	ORPHA:2582
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Kyphosis, Flexion contr...	ORPHA:3042
Lacrimal Duct Defect	Epiphora	OMIM:149700
Myopathy, Centronuclear, 2	Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Intrauterine growth retarda...	OMIM:255200
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint hypermobility, Joint stiffness, Kyphosis, Scoliosis, Triangular mou...	OMIM:617988
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Co...	OMIM:263750
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Hyperlordosis, Tremor, Kyphosis, Babinski sign, Blepharospasm, Hypertonia, Scoliosis	OMIM:128100
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue, High palate, Sco...	OMIM:615109
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the...	OMIM:615630
Ichthyosis, Congenital, Autosomal Recessive 11	Blepharitis, Conical primary incisor	OMIM:602400
Insulin-Resistance Syndrome Type B	Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Increased body weight, Weight l...	ORPHA:2298
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Short stature...	OMIM:613091
Waardenburg Syndrome, Type 1	Mandibular prognathia, Underdeveloped nasal alae, Wide nasal bridge, Orofacial cleft, Supernumera...	OMIM:193500
Macrocephaly/Autism Syndrome	Joint laxity, Frontal bossing, Depressed nasal bridge, Large for gestational age, Obesity, High p...	OMIM:605309
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hyperlordosis, Kyphosis, Short toe, Obesity, Keloids, Brachydactyly	ORPHA:3085
Fetal Hydantoin Syndrome	Short stature, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Hern...	ORPHA:1912
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Inguinal hernia, Hypoplastic scapulae, Median cleft lip, Median cleft l...	OMIM:269860
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent upper respiratory tract infections, Arthritis, Membranous nephropathy, Recurrent sinusi...	OMIM:615559
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Abnormal nasal morphology, Postnatal growth retardation, Hip dis...	ORPHA:293843
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Anosmia, Single naris, Absent nares, Hyposmia, Iris coloboma	ORPHA:2250
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Witteveen-Kolk Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Short philtrum...	OMIM:613406
Sturge-Weber Syndrome	Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis...	ORPHA:3205
Wilson Disease	Osteomalacia, Joint hypermobility, Osteoarthritis, Atypical or prolonged hepatitis, Osteoporosis,...	OMIM:277900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Axenfeld-Rieger Syndrome, Type 3	Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Concave nasal ridge, Proptosis, Posterio...	OMIM:602482
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Short neck, Long philtrum, Short nose, Failure to thrive, Adducted thumb	ORPHA:50810
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bila...	OMIM:619557
Schnitzler Syndrome	Arthritis, Increased bone mineral density, Skin rash	ORPHA:37748
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Short neck, Hernia, Clinodactyly of the 5th...	ORPHA:264450
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Oral mucosal blisters, Urinary bladder inflammation, Pterygium, Enamel...	ORPHA:79403
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short stature, Ovoid vertebral bodies, Joint stiffness, Limitation of j...	OMIM:614185
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Short stature, Oligodontia, Hypodontia, Delayed puberty	ORPHA:447896
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Arachnoda...	ORPHA:558
Deeah Syndrome	Prominent nasal tip, Cervical hemivertebrae, Decreased body weight, Short stature, Short neck, Na...	OMIM:619004
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Prominent nasal bridge, Micrognathia, Kyphosis, High palate, Short philtrum, Rad...	OMIM:609944
Barth Syndrome	Mandibular prognathia, Pointed chin, Failure to thrive, Growth delay	OMIM:302060
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna...	OMIM:200980
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Severe postnatal growth retardation, Abnormality of...	ORPHA:85410
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis, Failure to thrive, Small for gestational age	OMIM:613217
Catel-Manzke Syndrome	Joint dislocation, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f...	OMIM:616145
Sunct Syndrome	Increased tear production, Epiphora	ORPHA:57145
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal occipital bone morphology, Hi...	ORPHA:3472
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n...	OMIM:619426
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:286
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,...	OMIM:604416
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Prominent metopic ridge, Depressed nasal bridge, Short stature,...	ORPHA:576
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Bulbous nose, Palate fi...	OMIM:616788
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Tented upper lip vermilion, Anteverted nares, Kyphosis, Recurrent pneumonia, 2-3...	OMIM:616449
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thick eyebrow, Juvenile cataract, Palpebral edema, Anteverted nares, Cataract, Hypertelorism, Syn...	OMIM:619475
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Eczema, Recurrent uppe...	ORPHA:508542
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia...	OMIM:613610
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Wide nasal bridge, Aspiratio...	OMIM:616430
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Prominent metopic ridge, Anteverted nares, Short statu...	ORPHA:2745
Farber Disease	Abnormality of the knee, Short stature, Short toe, Flexion contracture, Osteoporosis, Recurrent u...	ORPHA:333
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis...	OMIM:304050
Mgat2-Cdg	Osteopenia, Dental crowding, Kyphosis, Low hanging columella, Recurrent upper and lower respirato...	ORPHA:79329
Wagro Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Obesity, Malar flattening	OMIM:612469
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Mild short stature, Short nose	OMIM:620292
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Short nose, Micrognathia	OMIM:256600
Branchiootorenal Syndrome 1	Gustatory lacrimation, Congenital hip dislocation, Lacrimation abnormality	OMIM:113650
Sialidosis Type 1	Short stature, Ataxia, Tremor, Kyphosis, Slurred speech, Abnormal form of the vertebral bodies, M...	ORPHA:812
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Dolichocephaly, Abnorm...	ORPHA:2719
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Abnor...	ORPHA:444077
Bloom Syndrome	Syndactyly, Small for gestational age, Prominent nose, Postnatal growth retardation, Recurrent up...	OMIM:210900
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal ...	ORPHA:97349
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Frontal bossing, Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Micro...	OMIM:614080
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morpho...	OMIM:305100
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short chin, Short nose	OMIM:618437
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima	OMIM:240000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Widely spaced teeth, Short stature, Cleft soft palate, Tapered finger, Supernumerary tooth, Scoli...	ORPHA:268261
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Brachycephaly, Short philtrum, Widely spaced teeth, Clinodactyly of th...	OMIM:280000
Weiss-Kruszka Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Anteverted nares, Proximal placement of thumb, ...	OMIM:618619
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Downturned corners of mouth, ...	OMIM:136140
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Noonan Syndrome 14	Short stature, Prominent nasal bridge, Short neck, Kyphosis, High, narrow palate, Pointed chin, W...	OMIM:619745
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Narrow mouth, Complete dupli...	ORPHA:59315
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Short stature, Retrognathia, Downturned corners of mouth, ...	OMIM:301030
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphalangeal thumb ...	OMIM:613870
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val...	OMIM:304150
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Short ...	ORPHA:1675
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Decreased body weight, Anteverted nares, Depressed nasal bridge, Mic...	OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Prominent nose, High, narrow palate, Short philtrum, Widely spaced teeth, Joint ...	OMIM:300967
Mend Syndrome	Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Microgna...	OMIM:300960
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed tongue, High palate, Sco...	OMIM:158350
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Aspiration pneumonia,...	ORPHA:99772
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Short stature, Broad nasal tip, Wide nasal bridge, Cleft palate, Shor...	OMIM:614207
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, ...	ORPHA:672
Charge Syndrome	Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mineral density, Clinodactyly of th...	ORPHA:138
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Dyskeratosis Congenita, Autosomal Dominant 3	Short stature, Ataxia, Growth delay, Intrauterine growth retardation, Epiphora	OMIM:613990
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Midface retrusion, Anteverted nares, Short neck, Kyphosis, C...	ORPHA:420794
Chops Syndrome	Anteverted nares, Short stature, High, narrow palate, Obesity, Downturned corners of mouth, Aspir...	OMIM:616368
Adenylosuccinase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Brachycephaly, Wide mouth, G...	OMIM:103050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Micrognathia, Choanal stenosis, Arachnodactyly, Wide nasal bridge, Fused cervical vertebrae, Narr...	ORPHA:83617
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Bulbous nose, Hypotelorism, Chorioretinal coloboma, Iris coloboma	OMIM:613884
Ramon Syndrome	Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios...	OMIM:266270
Lead Poisoning	Delayed eruption of teeth, Small for gestational age, Skin rash, Cranial hyperostosis, Tubulointe...	ORPHA:330015
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Recurrent upper respira...	OMIM:619769
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Broad skull, Erythema nodos...	ORPHA:228123
Pituitary Gigantism	Mandibular prognathia, Frontal bossing	ORPHA:99725
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Neuropathic arthropathy, Growth delay, Scoliosis, Alacrima	OMIM:223900
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ...	OMIM:104570
Wilson Disease	Back pain, Increased body weight, Hepatitis, Weight loss, Arthritis, Joint swelling, Acute hepati...	ORPHA:905
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Flat occiput, Femoral hernia, Anteverted nares, Protruding tongue, Obesity, Brac...	ORPHA:96147
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Pancreatitis, Osteoarthritis, Peritonitis, Arthritis, Erysipel...	ORPHA:342
Renal And Mullerian Duct Hypoplasia	Frontal bossing, Short nose, Severe postnatal growth retardation, Micrognathia	OMIM:266810
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Omphalocele, Inguinal hernia, Otosclerosis, Prominent metopic ridge, Conge...	ORPHA:116
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Oral ulcer, Weight loss, Arthritis...	OMIM:617321
Stüve-Wiedemann Syndrome	Sacral dimple, Short stature, Camptodactyly of finger, Lacrimation abnormality, Elbow flexion con...	ORPHA:3206
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Recurrent pneumonia,...	OMIM:612301
Pelizaeus-Merzbacher Disease	Ataxia, Short stature, Kyphosis, Choreoathetosis, Scoliosis, Spasticity	ORPHA:702
Familial Cold Autoinflammatory Syndrome 2	Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis	OMIM:611762
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Brachycephaly, High palate, Microretrognathia, Joint...	OMIM:601776
Mowat-Wilson Syndrome	Cataract, Hypertelorism, Low hanging columella, Wide nasal bridge, Microcornea, Deeply set eye, E...	OMIM:235730
Hyperostosis Cranialis Interna	Epiphora	OMIM:144755
Rett Syndrome	Short stature, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity	OMIM:312750
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Scoliosi...	OMIM:211530
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Short stature, Epistaxis, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Increa...	ORPHA:79259
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Herpes Simplex Virus Stromal Keratitis	Epiphora	ORPHA:137599
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia,...	OMIM:216340
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Diamond-Blackfan Anemia 8	Short stature, Wide nasal bridge, Growth delay, Short nose, Thick upper lip vermilion	OMIM:612563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, High palate, Recurrent aspiration pneumonia, Prominent pa...	ORPHA:280633
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Narrow nasal bridge, Short stature, Kyphosis, Flexion contr...	ORPHA:398069
Marden-Walker Syndrome	Failure to thrive, Severe short stature, Arachnodactyly, Camptodactyly of finger, Micrognathia, M...	ORPHA:2461
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Pneumonia, Chronic otitis media, Hypocalcification of dental enamel	ORPHA:169090
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Short stature, Underdeveloped nasal alae, Glossoptosis, Biparietal narrowing, C...	ORPHA:2031
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Metopic synostosis, Narrow mouth, Sh...	OMIM:613735
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Paroxysmal Hemicrania	Epiphora	ORPHA:157835
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Prominent nasal bridge, Kyphosis, Obesity, Narrow mouth	ORPHA:261222
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Lipodystrophy, Skin rash, Flexion contracture, Arthritis, Finger swelling, P...	OMIM:617591
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Weight...	ORPHA:465508
Alacrima, Congenital, Autosomal Recessive	Alacrima	OMIM:601549
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I...	ORPHA:42775
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Joint la...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Calcaneovalgus deformity, Prominent fingertip pads, Thick nasal alae, Joint la...	ORPHA:363958
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia	OMIM:610706
Aortic Aneurysm, Familial Thoracic 12	Arthritis, High palate, Scoliosis	OMIM:619825
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Cyclopia, Iris coloboma, Aplasia of the nose, Hypotelorism	ORPHA:3186
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti...	ORPHA:369950
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Flexion contracture, Brach...	OMIM:614225
Becker Nevus Syndrome	Lipoatrophy, Kyphosis, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Scoliosis, Spin...	ORPHA:64755
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Kyphosis, Orofacial cleft, Macroglossi...	ORPHA:79107
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Short stature, Decreased lacrimation	OMIM:242150
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin...	ORPHA:99413
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxation, Scoliosis, Wormian bones	OMIM:617821
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, Gastroin...	ORPHA:881
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Thic...	OMIM:602152
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Short stature, Flexion contracture, Absence of subcutaneous fat, Kerat...	OMIM:601675
Alstrom Syndrome	Chronic active hepatitis, Short stature, Abnormality of the dentition, Kyphosis, Recurrent pneumo...	OMIM:203800
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Flexion contracture, Small hand, Brachycephaly, Short foot, ...	ORPHA:500055
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal dental enamel morphology, Cheilitis, Hepatitis, Abnormal lip morphology	ORPHA:1334
Usher Syndrome	Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:886
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Midface retrusion, Protruding tongue	DECIPHER:52
Incontinentia Pigmenti	Delayed eruption of teeth, Maculopapular exanthema, Scarring, Kyphoscoliosis, Conical tooth, Kera...	OMIM:308300
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle...	ORPHA:261236
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis	ORPHA:43
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Scoliosis, Frequent falls	OMIM:607155
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Holoprosencephaly 2	Aplasia of the nasal bone, Remnants of the hyaloid vascular system, Proboscis, Absent nasal septa...	OMIM:157170
Steinfeld Syndrome	Iris coloboma, Retinal coloboma, Aplasia of the nose	OMIM:184705
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Ulbright-Hodes Syndrome	Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa...	ORPHA:3404
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Short neck, Micrognathia, Abnormality of canine, Broad nasal tip, High pal...	ORPHA:261584
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Redu...	ORPHA:2911
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Elbow flexion contracture, Vocal...	ORPHA:98863
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Cinca Syndrome	Frontal bossing, Skin rash, Patellar overgrowth, Uveitis, Growth delay, Arthritis	OMIM:607115
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Short lingual frenulum, Depressed ...	OMIM:619479
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Eczema, Scarring alopecia of scalp, Cleft palate, Concave nasal ridge, Short philtru...	OMIM:617337
Rat-Bite Fever	Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus...	ORPHA:31205
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus herni...	OMIM:619488
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, Ataxia, Spastic tetraplegia, Growth delay, Myoclonus, Spastic paraparesis, Spasticit...	OMIM:609136
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia	ORPHA:2309
Distal Deletion 19P	Long toe, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Keloids, Joint...	ORPHA:96129
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Endocarditis, Arthritis	ORPHA:3099
Cone-Rod Dystrophy 10	Epiphora	OMIM:610283
Atelis Syndrome 2	Frontal bossing, Sacral dimple, Micrognathia, Diastema, Kyphosis, Prominent nose, Thick lower lip...	OMIM:620185
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Tapered ...	OMIM:609638
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Short stature, Short neck, Broad nasal tip, Kyphosis, Cleft lip, Hemivert...	OMIM:618223
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E...	ORPHA:522077
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Depressed nasal bridge, Short stature, Postaxial polydactyly, Accessory oral fr...	OMIM:617088
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169805
Cadds	Intrauterine growth retardation, Short nose, Cholangitis, Micrognathia	ORPHA:369942
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Nasal polyposis, Sinusitis, Skin rash, Myocarditis, En...	ORPHA:183
Restrictive Dermopathy	Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Multiple joint contractures, Aplasia/Hypoplasia...	ORPHA:1662
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Prominent nasal bridge, Short toe, Brachycephaly, Orofacial cleft...	ORPHA:1519
Limb Body Wall Complex	Depressed nasal bridge, Choanal atresia, Corneal opacity, Hypertelorism, Wide nasal bridge, Lens ...	ORPHA:2369
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Kyphosis, Brachycephaly, Hi...	OMIM:619244
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Failure to thrive, Tented upper lip vermilion, Lipodystrophy, Micrognathia, ...	ORPHA:435628
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261552
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Bulbous nose, Absent cupid's bow, Short nose	ORPHA:284169
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Weight loss	ORPHA:3287
Alacrima, Congenital, Autosomal Dominant	Alacrima, Decreased lacrimation	OMIM:103420
Achalasia-Addisonianism-Alacrima Syndrome	Alacrima, Babinski sign, Short stature, Ataxia	OMIM:231550
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er...	ORPHA:2348
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey...	ORPHA:2396
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Failure to thrive, Wide nose, Abnormal dental enamel morphology, Congenital diaphr...	ORPHA:2556
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilio...	ORPHA:2729
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Toe syndactyly, Hypoplastic sacrum, Absence of Stensen duct, Sel...	OMIM:604292
Peters Plus Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Corneal opacity, Hypertelorism, Upslanted pal...	ORPHA:709
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Small for gestational age, Short stature	ORPHA:289266
Ablepharon Macrostomia Syndrome	Omphalocele, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, U...	ORPHA:920
Curry-Jones Syndrome	Blepharophimosis, Iris coloboma	OMIM:601707
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Micrognathia, Short philtrum, Wormian bones, Umbilical hernia	OMIM:617237
Adult-Onset Still Disease	Pericarditis, Skin rash, Cartilage destruction, Recurrent pharyngitis, Myocarditis, Hepatitis, Jo...	ORPHA:829
Eosinophilic Fasciitis	Myositis, Fasciitis, Weight loss, Arthritis, Cellulitis	ORPHA:3165
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276241
Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Elbow flexion contracture, Vocal cord paraly...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Elbow flexion contracture, Vocal cord paraly...	ORPHA:98853
Epithelial Recurrent Erosion Dystrophy	Epiphora	ORPHA:293381
Neurotrophic Keratopathy	Lacrimation abnormality	ORPHA:137596
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Kyphosis, Cleft lip, Cleft palate, Camptodactyly, Clinodactyly of the 5th finger, B...	OMIM:619123
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Hemochromatosis, Type 2A	Arthritis	OMIM:602390
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Anteverted nares, Short stature, Cachexia, Kyphosis, Midline defect of the nos...	ORPHA:1969
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Lipodystrophy, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, ...	ORPHA:98855
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Cleft palate, Growth ...	OMIM:615465
Meckel Syndrome, Type 1	Hypertelorism, Hypotelorism, Epicanthus inversus, Iris coloboma, Enlarged naris, Ptosis	OMIM:249000
Odontomicronychial Dysplasia	Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit...	ORPHA:1811
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art...	ORPHA:449280
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes...	OMIM:619708
Oculotrichoanal Syndrome	Hypertelorism, Bifid nasal tip, Upper eyelid coloboma, Nasolacrimal duct obstruction, Cryptophtha...	ORPHA:2717
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per...	ORPHA:727
Linear Nevus Sebaceus Syndrome	Telecanthus, Iris coloboma	ORPHA:2612
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Alveolar ridge overgrowth, Corneal scarring, A...	ORPHA:642
Familial Multiple Lipomatosis	Bowing of the long bones, Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose ti...	ORPHA:199276
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Wide mouth, Failure...	ORPHA:1231
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Congenital Tufting Enteropathy	Choanal atresia, Orofacial cleft, Weight loss, Arthritis, Punctate keratitis, Failure to thrive	ORPHA:92050
Cone-Rod Dystrophy 8	Epiphora	OMIM:605549
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Anteverted n...	OMIM:619522
Carcinoid Syndrome	Epiphora	ORPHA:100093
Cerebrocostomandibular Syndrome	Short stature, Tracheomalacia, Micrognathia, Kyphosis, Posterior rib gap, Cleft palate, Glossopto...	ORPHA:1393
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis, Intrauterine growth retardation	OMIM:619909
Bacterial Toxic-Shock Syndrome	Myositis, Fasciitis, Sinusitis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contracture	OMIM:603387
Glioblastoma	Paralysis	ORPHA:360
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Prominent nasa...	OMIM:606170
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Frontal bossing	OMIM:300291
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Inguinal hernia, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Abnormal naso...	OMIM:129900
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O...	OMIM:259770
Classic Homocystinuria	Arachnodactyly, Dental crowding, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Ge...	ORPHA:394
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Alacrima	OMIM:608088
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Chorea, Athetosis, Shoulder dislocation, Hyperkinetic movements, Decr...	ORPHA:404454
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Scoliosis, Flexion contracture of finger	ORPHA:88628
Waardenburg Syndrome	Lacrimation abnormality	ORPHA:3440
1P36 Deletion Syndrome	Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Depressed nasal bridge, Sho...	ORPHA:1606
Chikungunya	Maculopapular exanthema, Epistaxis, Skin rash, Joint stiffness, Erythema nodosum, Periostitis, Cr...	ORPHA:324625
Manitoba Oculotrichoanal Syndrome	Broad nasal tip, Hypertelorism, Bifid nasal tip, Nasolacrimal duct obstruction, Eyelid coloboma, ...	OMIM:248450
Frontonasal Dysplasia 2	Intrauterine growth retardation, Craniosynostosis, Decreased lacrimation	OMIM:613451
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Short stature, Arthritis, Septic arthritis, Failure to thrive	OMIM:619423
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Thin upper lip vermilion, Lumbar hyperlordosis, Flat occiput, Kyphosis, Osteoporosis,...	ORPHA:2232
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Posterior Polymorphous Corneal Dystrophy	Lacrimation abnormality	ORPHA:98973
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Japanese Encephalitis	Genu recurvatum, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Elbow flexion...	ORPHA:79139
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis	OMIM:616414
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis...	ORPHA:809
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Fucosidosis	Lipoatrophy, Abnormality of the dentition, Kyphosis, Brachycephaly, Anterior beaking of lumbar ve...	ORPHA:349
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Short stature, Postaxial polydactyly, Preaxial polydactyly, F...	OMIM:615503
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Aplasia of the nasal bone, Acrania, Kyphoscoliosis, Micrognathia, Joint ...	OMIM:618820
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Allergic rhinitis, Cholan...	ORPHA:183675
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Enamel hypomineralization, Reduced bone mineral...	ORPHA:47159
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Decreased lacrimation	OMIM:616488
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Alacrima	OMIM:300858
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Acute pa...	OMIM:608594
Dyskeratosis Congenita, Digenic	Intrauterine growth retardation, Short stature, Epiphora	OMIM:620040
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Vocal cord paralysis, Myoclonus, Scoliosis, Spasticity, Hip subluxation	ORPHA:500144
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf...	ORPHA:90291
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Short stature, Short neck, Micrognathia, Wide nasal bridge, ...	ORPHA:2282
Familial Dysautonomia	Growth delay, Ataxia, Scoliosis, Alacrima	ORPHA:1764
Acrocephalopolydactylous Dysplasia	Omphalocele, Craniosynostosis, Short neck, Postaxial hand polydactyly, Oxycephaly, Short nose	OMIM:200995
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Machado-Joseph Disease Type 3	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276244
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Limitation of joint mobility, Growth delay, Arthritis, Recurrent aphthous stomatitis	ORPHA:343
Branchiooculofacial Syndrome	Telecanthus, Cataract, Depressed nasal bridge, Hypertelorism, Broad nasal tip, Nasolacrimal duct ...	OMIM:113620
Noonan Syndrome 3	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynost...	OMIM:609942
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Torticollis, Scoliosis, Hyperlordosis	OMIM:181405
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Weight loss, Enthes...	ORPHA:29207
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o...	OMIM:204690
Nasolacrimal Duct Cyst	Epiphora	ORPHA:141083
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Eczema, Short stat...	OMIM:617799
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Acute pa...	OMIM:269700
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Joint hyperflexibility, Arthritis	ORPHA:93111
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Sclerocornea, Peters anomaly	OMIM:309801
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Aspartylglucosaminuria	Joint laxity, Anteverted nares, Depressed nasal bridge, Acne, Short stature, Kyphosis, Hypoplasti...	OMIM:208400
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Oligodontia	ORPHA:324737
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
Giant Cell Arteritis	Pericarditis, Epistaxis, Joint stiffness, Recurrent pharyngitis, Weight loss, Arthritis, Glossitis	ORPHA:397
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Small for gestational age, Short stature, Gout, Wide mouth, High palate, ...	OMIM:300661
Generalized Pustular Psoriasis	Overweight, Pustule, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosis, Erythroderm...	ORPHA:247353
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, ...	OMIM:307200
Dend Syndrome	Prominent metopic ridge, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodacty...	ORPHA:79134
Dyskeratosis Congenita, Autosomal Recessive 1	Pterygium, Epiphora	OMIM:224230
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Multiple joint contractures, Prominent nose, High palate, Aspi...	ORPHA:79318
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Oral ulcer, Arthritis, Malar rash, Nephritis	ORPHA:93552
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Inflammatory abno...	ORPHA:36412
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Spastic paraplegia, Dysmetr...	ORPHA:171629
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Pterygium Colli, Isolated	Short nose	OMIM:177990
Ichthyosis, Congenital, Autosomal Recessive 2	Growth delay, Paralysis	OMIM:242100
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Growth delay, Intrauterine growth retardation, Bilateral vocal cord paresis, Alacrima	OMIM:614653
Hermansky-Pudlak Syndrome	Epistaxis, Abnormal dental enamel morphology, Weight loss	ORPHA:79430
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Furrowed tongue, Polyarticular art...	OMIM:614204
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Short nose	OMIM:611936
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Rec...	ORPHA:32960
Alexander Disease	Osteopenia, Frontal bossing, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis, Failure...	ORPHA:58
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyly, Bra...	OMIM:263520
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Fusariosis	Fasciitis, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Amyotrophic Lateral Sclerosis	Spasticity, Paralysis	ORPHA:803
Overlap Myositis	Subluxation of the small joints of the hand, Arthritis, Finger swelling, Abnormality of connectiv...	ORPHA:206572
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Pancreatitis	OMIM:610475
Polymyositis	Arthritis, Pericarditis, Chondrocalcinosis, Weight loss	ORPHA:732
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, High, narrow palate, Kyphosis, Thick l...	OMIM:162300
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Obesity, Wide mouth, Short nose, Joint hypermobility	ORPHA:293948
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Thin upper lip vermilion, Pericarditis, Depressed nasal bridge, Kyphosis, Abnormal su...	OMIM:212065
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Arthritis, Vocal cord paralysis	ORPHA:397744
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Macroglo...	ORPHA:505248
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Folliculitis, Angular cheilitis	OMIM:167210
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h...	OMIM:161700
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, Erythroderma	OMIM:619510
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, ...	OMIM:268300
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity	OMIM:219080
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Short stature, Gout	OMIM:617056
Riddle Syndrome	Short stature, Pneumonia, Recurrent pneumonia, Weight loss, Arthritis, Otitis media, Recurrent si...	ORPHA:420741
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections...	OMIM:616100
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv...	OMIM:142680
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compres...	OMIM:219090
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Wiskott-Aldrich Syndrome	Sinusitis, Epistaxis, Eczema, Keratitis, Hyperostosis, Inflammation of the large intestine, Arthr...	ORPHA:906
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive	OMIM:304790
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Small for gestational...	ORPHA:464306
Inhalational Botulism	Paralysis	ORPHA:254504
Whipple Disease	Myositis, Pericarditis, Cachexia, Myocarditis, Uveitis, Arthritis, Infectious encephalitis	ORPHA:3452
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, Myoclonus, Scoliosis...	OMIM:615273
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints,...	ORPHA:3260
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Brachycephaly, Hi...	OMIM:619472
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczema	OMIM:617780
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Arnold-Chiari Malformation Type I	Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervical vertebrae, Progressive cerebella...	ORPHA:268882
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Alacrima, Wide anterior fontanel, Scoliosis	OMIM:618548
Charge Syndrome	Cataract, Choanal atresia, Hypertelorism, Anosmia, Coloboma, Retinal coloboma, Downslanted palpeb...	OMIM:214800
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations	ORPHA:682
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Spasticity, Abnormal pyramidal sign, Ataxia, Decreased lacrimation	ORPHA:163746
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Gitelman Syndrome	Ataxia, Paralysis, Growth delay, Delayed puberty, Chondrocalcinosis	OMIM:263800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Prominent nasal bridge, Ankle flexion contracture, ...	ORPHA:464311
Severe Hemophilia A	Limb joint contracture, Epistaxis, Limitation of joint mobility, Synovitis, Joint swelling, Progr...	ORPHA:169802
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri...	ORPHA:2137
Glycogen Storage Disease Ib	Short stature, Osteoporosis, Oral ulcer, Gout, Inflammation of the large intestine, Delayed puber...	OMIM:232220
Adiposis Dolorosa	Arthritis, Recurrent skin infections, Obesity	ORPHA:36397
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Mandibular prognathia, High, narrow palate, Long philtrum	ORPHA:457212
Fabry Disease	Short stature, Thick lower lip vermilion, Abnormal femur morphology, Reduced bone mineral density...	ORPHA:324
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Bone cyst, Clubbing, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammation...	OMIM:181000
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Midface retr...	OMIM:613454
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners of mouth, ...	OMIM:619321
Isolated Exencephaly	Abnormal calvaria morphology, Depressed nasal bridge, Abnormal facial skeleton morphology, Hypopl...	ORPHA:563612
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Short stature, Plagiocephaly, Art...	ORPHA:51
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Intellectual Disability-Alacrima-Achalasia Syndrome	Alacrima	ORPHA:289483
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Ataxia, Alacrima	OMIM:615510
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Inguinal hernia, Arachnodactyly, Depressed nasal bridge, Congenital...	OMIM:614437
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity	OMIM:610489
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of...	OMIM:164210
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Oral ulc...	OMIM:619381
Cowden Syndrome	Short stature, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, High palate, Scoliosis, Lipoma...	ORPHA:201
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Flared nostrils, Wide nasal bridge, T...	OMIM:182210
Lacrimoauriculodentodigital Syndrome 2	Alacrima	OMIM:620192
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Erythema nodosum, Aphthous ulcer, Oral ulcer, Arthritis, Panniculitis, Recurre...	OMIM:615688
17Q11 Microdeletion Syndrome	Osteopenia, Depressed nasal bridge, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Os...	ORPHA:97685
Mucoepithelial Dysplasia, Hereditary	Epiphora	OMIM:158310
Poliomyelitis	Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis	ORPHA:2912
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Inguinal hernia, Ankle flexion contractur...	ORPHA:821
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Corneal Dystrophy, Posterior Polymorphous, 1	Epiphora	OMIM:122000
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Tremor, Vocal cord paralysis, Poor fine motor coordination, Scoliosis	ORPHA:99956
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:617143
Cryoglobulinemic Vasculitis	Viral hepatitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:91138
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti...	OMIM:186580
Johanson-Blizzard Syndrome	Joint laxity, Small for gestational age, Convex nasal ridge, Short stature, Underdeveloped nasal ...	OMIM:243800
Dowling-Degos Disease	Arthritis, Acne inversa	ORPHA:79145
Tick-Borne Encephalitis	Back pain, Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasc...	ORPHA:297
Rift Valley Fever	Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Molybdenum Cofactor Deficiency, Complementation Group B	Frontal bossing, Growth delay, Thick vermilion border, Long philtrum, Short nose	OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A	Frontal bossing, Growth delay, Thick vermilion border, Long philtrum, Short nose	OMIM:252150
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Widely spaced teeth	OMIM:300942
Dyskeratosis Congenita, X-Linked	Short stature, Ataxia, Intrauterine growth retardation, Pterygium, Epiphora	OMIM:305000
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Growth delay, Short palm, Short nose, Failure to thrive, Brachydactyly	ORPHA:3339
Glycogen Storage Disease Ia	Short stature, Osteoporosis, Gout, Growth delay, Delayed puberty, Pancreatitis	OMIM:232200
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Paralysis, Oculomotor apraxia, Spastic paraplegia, Limb ataxia, Growth delay, Hypertonia, Scolios...	ORPHA:2072
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Conjunctivitis, Cellulitis	OMIM:153400
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Dental crowding, Down-sloping shoulders, Kyphoscoliosis, Cleft ...	OMIM:309800
Shigellosis	Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, A...	ORPHA:810
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ...	ORPHA:91139
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis	OMIM:203700
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Oral ulcer, Weight loss, Arthritis, Inflammation ...	OMIM:301074
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis	ORPHA:79102
Hyper-Igd Syndrome	Skin rash, Lymphadenitis, Oral ulcer, Arthritis, Chronic oral candidiasis, Serositis	OMIM:260920
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Thyroiditis, Eruption failure, Odontoma, Lipom...	ORPHA:733
Listeriosis	Back pain, Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis,...	ORPHA:533
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Glycogen Storage Disease Vii	Gout	OMIM:232800
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Oral ulcer, Arthritis, Iritis	OMIM:109650
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Weight loss, Arthritis	ORPHA:93672
Familial Mediterranean Fever	Pericarditis, Orchitis, Aphthous ulcer, Peritonitis, Arthritis, Crohn's disease, Erysipelas	OMIM:249100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased lacrimation, Short stature, Scoliosis, Delayed puberty	ORPHA:293987
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Pneumonia...	OMIM:617809
Townes-Brocks Syndrome	Cataract, Blepharophimosis, Chorioretinal coloboma, Limbal dermoid, Iris coloboma	ORPHA:857
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, High palate, High, narrow palate, Scoliosis	OMIM:177850
Kawasaki Disease	Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Cheilitis, Hepatitis, Arthritis, Con...	ORPHA:2331
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Wide nasal bridge, Oligodontia, Short philtr...	OMIM:180500
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis	OMIM:612260
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis	ORPHA:464343
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Weight loss, ...	OMIM:615846
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke...	ORPHA:79665
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Panniculitis, Colitis,...	ORPHA:3261
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Mu...	ORPHA:636
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Gout	ORPHA:411543
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Helix Syndrome	Alacrima	OMIM:617671
Persistent Hyperplastic Primary Vitreous	Epiphora	ORPHA:91495
Amoebiasis Due To Free-Living Amoebae	Hemiparesis, Ataxia, Increased tear production	ORPHA:68
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Pyelonephritis, Abnormality of the dentition	ORPHA:2036
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Distal Renal Tubular Acidosis	Growth delay, Short stature, Paralysis	ORPHA:18
Systemic Lupus Erythematosus	Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Abnormal pigmentation of the oral muc...	ORPHA:536
Lymphatic Filariasis	Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis	ORPHA:2035
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Hereditary Spherocytosis	Growth delay, Maculopapular exanthema, Gout	ORPHA:822
Triosephosphate Isomerase Deficiency	Tremor, Kyphosis, Spasticity	OMIM:615512
Isolated Congenital Alacrima	Alacrima	ORPHA:91416
Choreoacanthocytosis	Weight loss, Arthritis, Temporomandibular joint crepitus, Protruding tongue	ORPHA:2388
Glycogen Storage Disease Ic	Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inflammation of the lar...	OMIM:232240
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,...	ORPHA:707
Dermatomyositis	Pericarditis, Myocarditis, Weight loss, Arthritis, Cellulitis, Chondrocalcinosis	ORPHA:221
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Gitelman Syndrome	Chondrocalcinosis, Paralysis, Gout, Delayed puberty	ORPHA:358
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis	ORPHA:761
Dysbetalipoproteinemia	Acute pancreatitis, Obesity, Gout	ORPHA:412
Marburg Hemorrhagic Fever	Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Uveitis, Arthritis, Pancre...	ORPHA:99826
Sitosterolemia 1	Arthritis	OMIM:210250
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased lacrimation	ORPHA:572333
Tyrosinemia, Type I	Growth delay, Periodic paralysis	OMIM:276700
Gaisböck Syndrome	Overweight, Gout, Obesity, Cholecystitis	ORPHA:90041
Chronic Graft Versus Host Disease	Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weight loss, Arthri...	ORPHA:99921
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout	OMIM:174000
African Trypanosomiasis	Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Hemiparesis, Choreoath...	ORPHA:3385
Alström Syndrome	Abnormality of dental color, Thoracic scoliosis, Gingivitis, Otitis media, Short stature, Short t...	ORPHA:64
Pineoblastoma	Paralysis	ORPHA:251909
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis	ORPHA:544482
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Delayed puberty	ORPHA:91347
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Increased tear production	ORPHA:95455
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49

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 Ltbp3

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 Ltbp3.

No publications found that use IMPC mice or data for Ltbp3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ltbp3^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Ltbp3^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Ltbp3^{tm465303(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	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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