Gene: Gdf6 MGI:95689

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
growth differentiation factor 6
Synonyms:
BMP13

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Gdf6 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.

The table below shows human diseases associated to Gdf6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Gdf6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis, Overlapping toe, Pes planus, Brachydactyly, Broad foot OMIM:617898
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad thumb, Stapes ankylosis, Conductive hearing impairment, Short distal phalan... OMIM:184460
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Proximal symphalangism, E... ORPHA:3250
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Abnormality of the stapes OMIM:124490
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Atresia of the external auditory canal, Bilateral conductive hearing impairmen... ORPHA:2010
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Toe syndactyly, Reduced proximal interphalangea... OMIM:185750
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Sheldon-Hall Syndrome
Overlapping fingers, Tarsal synostosis, Aplasia/Hypoplasia of the radius, Bilateral single transv... ORPHA:1147
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Bow... ORPHA:90650
Syndactyly, Type V
Camptodactyly of finger, 3-4 toe syndactyly, 4-5 toe syndactyly, Fused fourth and fifth metacarpa... OMIM:186300
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Acromesomelia, Bilateral si... ORPHA:968
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Talipes, ... ORPHA:1836
Ulnar Hemimelia
Radial club hand, Short forearm, Elbow pain, Limited shoulder movement, Duplication of phalanx of... ORPHA:93320
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphol... ORPHA:1822
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Humeroradial Synostosis With Craniofacial Anomalies
Small earlobe, Humeroradial synostosis, Tarsal synostosis, Frontal bossing, Plagiocephaly, Brachy... OMIM:236410
Talonavicular Coalition
Short hallux, Abnormality of the ankles, Foot pain, Proximal/middle symphalangism of 5th finger, ... OMIM:186750
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Muenke Syndrome
Broad thumb, Short middle phalanx of toe, Midface retrusion, Short middle phalanx of finger, Recu... OMIM:602849
Otofacioosseous-Gonadal Syndrome
Short hallux, Wormian bones, Genu valgum, Frontal bossing, Low-set ears, Posteriorly rotated ears... OMIM:601976
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Joint stiffness,... ORPHA:1275
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Sandal gap,... OMIM:311300
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Abnormality of the metacarpal bones, Joint stiffness, Genu valgu... ORPHA:2496
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Upper limb undergrowth, Short metatarsal, Synostosis of carpal bones, ... ORPHA:93351
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Radioulnar synostosis, Short metatarsal, Hitchhiker thumb, Carpal synostosis, ... OMIM:605282
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Radial head subluxatio... OMIM:186400
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Atresia of the external auditory canal, Limb undergrowth, A... ORPHA:3429
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Joint laxity, Conductive hearing impairment, Recurrent otitis media, Synostosi... OMIM:157800
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Carpal synostosis, Plagiocephaly, Short foot, Sensorine... ORPHA:53271
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Toe syndactyly, Aplasia/Hyp... ORPHA:157801
Nievergelt Syndrome
Genu valgum, Tarsal synostosis, Radioulnar synostosis, Radial head subluxation, Mesomelia, Talipe... OMIM:163400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex congenita, Low-s... OMIM:178110
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Synostosis of carpals/tarsals, Coales... OMIM:301940
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Conductive hearing impairment, Low-set, posteriorly rotated ears... ORPHA:1307
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... ORPHA:363417
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Distal Symphalangism
Camptodactyly of finger, Joint stiffness, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Brachydactyly Type B
Finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Synostosis of carpal bones, Broad ha... ORPHA:93383
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Pseudoarthrogryposis
Proximal tibial and fibular fusion, Ankylosis, Limited elbow movement OMIM:177300
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Sensorineural hearing impairment, Clinod... ORPHA:71289
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited elbow extension, Dislocated radial head, Radioulnar synostosis OMIM:179300
Jackson-Weiss Syndrome
Craniosynostosis, Short metatarsal, Midface retrusion, Hallux varus, Broad metatarsal, 2-3 toe sy... OMIM:123150
Isolated Brachycephaly
Midface retrusion, Metacarpal synostosis, Hearing impairment, Brachycephaly, Brachydactyly ORPHA:35099
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of carpal bones, Capitate-hamate fusio... OMIM:102510
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankles, Tarsal synostosis ORPHA:1412
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Brachydactyly, Short palm, Synostosis of carpal bones ORPHA:3238
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Banki Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... ORPHA:1228
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Humero-Radial Synostosis
Tarsal synostosis, Elbow dislocation, Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormali... ORPHA:3265
Acropectorovertebral Dysplasia
Camptodactyly of finger, Tarsal synostosis, Broad thumb, Finger syndactyly, Synostosis of carpal ... ORPHA:957
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Posteriorly rotated ears, Delayed ossification of carpal bones, Brachydactyly, Macrotia OMIM:618392
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness ORPHA:2064
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... OMIM:263540
Langer Mesomelic Dysplasia
Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, Bowing of the long bon... ORPHA:2632
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormality of the antihelix, Biparietal narrowing, Synostosis of carpal bones, Macrotia, Low-set... ORPHA:1005
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Radial head sublu... ORPHA:2634
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Clinodactyly, Sensorineural hearing impairment, Cutane... OMIM:148820
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... OMIM:185700
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Dolichocephaly, Radioulnar synostosis OMIM:266255
Hao-Fountain Syndrome
Large fontanelles, Low-set ears, Delayed cranial suture closure, Trigonocephaly, Clinodactyly of ... OMIM:616863
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsal, Broad palm, Capit... OMIM:271650
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Frontal bossing, S... ORPHA:3258
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic vertebrae, Antec... OMIM:618469
Frontometaphyseal Dysplasia 1
Genu valgum, Camptodactyly of finger, Scapular winging, Long foot, Partial fusion of tarsals, Par... OMIM:305620
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Progressive sensorineural hearing impairment, Optic atrophy OMIM:165199
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of finger, Synostosis of carpal bones, Hearing impairment, C... ORPHA:896
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Brachydactyly, Abnormal diaphysis morphology, Abnormality of the w... ORPHA:1657
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Short metatarsal, Bilateral external ear deformity, Ulnar deviat... ORPHA:93307
Seckel Syndrome 7
Hip dysplasia, Madelung deformity, Clinodactyly, Abnormality of the carpal bones, Delayed skeleta... OMIM:614851
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Tarsal synostosis, Large fontanelles, Elbow dislocation, S... ORPHA:90652
49,Xyyyy Syndrome
Large carpal bones, Cubitus valgus, Bridged palmar crease, Radioulnar synostosis, Finger clinodac... ORPHA:99330
Fibrodysplasia Ossificans Progressiva
Short hallux, Synostosis of joints, Ectopic ossification in muscle tissue, Hearing impairment, Ec... ORPHA:337
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Recurrent fractures, Reduced bone mineral density, Hearing impairmen... OMIM:166220
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Pes planus, C2-C3 subluxation, Sensorineural hearing impairment, Block vertebr... OMIM:272460
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse palmar creases, Ab... ORPHA:1106
Larsen-Like Syndrome
Wide anterior fontanel, Frontal bossing, Joint laxity, Conductive hearing impairment, Radial devi... OMIM:608545
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Short 4th ... ORPHA:50809
Arthrogryposis, Distal, Type 1A
Arthrogryposis multiplex congenita, Congenital hip dislocation, Stiff shoulders, Camptodactyly, S... OMIM:108120
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Bilateral single tr... OMIM:113450
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Brachydactyly Type A7
Medially deviated second toe, Short hallux, Aplasia/Hypoplasia of the middle phalanges of the han... ORPHA:93397
Hand-Foot-Genital Syndrome
Short hallux, Postaxial hand polydactyly, Synostosis of carpal bones, Hallux varus, Short 1st met... ORPHA:2438
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormality of the antihelix, Craniosynostosis, Tarsal synostosis, Camptodactyly, Stenosis of the... ORPHA:95699
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Bilateral single transverse palmar creases, Synostosis of carp... ORPHA:3191
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Elbow dislocation, Dorsal subluxation of... ORPHA:240
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Hearing impairment, Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor OMIM:617087
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone,... OMIM:608154
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Metacarpal 4-5 Fusion
Fused fourth and fifth metacarpals OMIM:309630
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Joint hypermobility, Recurrent fractures, Hearing impairment, Increa... OMIM:166200
Seizures, Cortical Blindness, And Microcephaly Syndrome
Growth delay, Optic atrophy, Short stature OMIM:616632
Pigmented Villonodular Synovitis
Abnormality of the knee, Localized osteoporosis, Abnormal hip joint morphology, Joint swelling, O... ORPHA:66627
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostos... OMIM:185900
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Joint laxity, Flared metaphysis, Hip dislocation, Carpal synostosis, Talipes equinovarus, Advance... OMIM:615349
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Enlarged interphalangeal joints, Short phalanx of finger, Broad... OMIM:151200
Platyspondylic Dysplasia, Torrance Type
Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing of the long bon... ORPHA:85166
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Ankle clonus, Sensorineural hearing impairment, ... ORPHA:1435
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Tarsal Coalition
Tarsal synostosis OMIM:186850
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Shor... OMIM:618889
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Epiphyseal Dysplasia, Multiple, 7
Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi... OMIM:617719
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Synov... OMIM:609655
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Carpal b... OMIM:177170
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Congenital hip dislocation, Radioulnar... ORPHA:3269
Abruzzo-Erickson Syndrome
Hearing impairment, Protruding ear, Radioulnar synostosis, Macrotia OMIM:302905
Optic Atrophy 3, Autosomal Dominant
Hearing impairment, Optic atrophy, Optic disc pallor OMIM:165300
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Bowing of th... ORPHA:2725
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Wide anterior fontanel, Frontal bossing, Large posterior fontanelle, Parietal ... ORPHA:85199
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finge... ORPHA:3268
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Hypoplastic ilia, Rhizomelia, Short finger, Cervical sublux... OMIM:607095
Auriculoosteodysplasia
Hip dysplasia, Macrotia, Elbow dislocation, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasi... ORPHA:114
Apert Syndrome
Humeroradial synostosis, Postaxial hand polydactyly, Preaxial hand polydactyly, Large fontanelles... OMIM:101200
Roberts Syndrome
Craniosynostosis, Bilateral single transverse palmar creases, Sandal gap, Wrist flexion contractu... ORPHA:3103
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Delayed ossification of carpal bones, Metaphyseal dysplasia, Genu varum OMIM:617974
Arthrogryposis, Distal, Type 2B1
Camptodactyly of finger, Rocker bottom foot, Arthrogryposis multiplex congenita, Absent phalangea... OMIM:601680
Juberg-Hayward Syndrome
Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnorma... OMIM:216100
Ruvalcaba Syndrome
Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Abnormality of the elb... ORPHA:3121
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Biparietal narrowing, Synostosis of carpal bones, Finger syndactyly, Abn... ORPHA:1323
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Desbuquois Syndrome
Abnormal femoral neck/head morphology, Camptodactyly of finger, Accelerated skeletal maturation, ... ORPHA:1425
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Accelerated skeletal maturation, Genu valgum, Pes planus, Knee dislocation, Hearing impairment, S... OMIM:618363
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe, Delayed ossification of c... OMIM:609616
Alpha-Mannosidosis
Hip dysplasia, Synostosis of joints, Craniofacial hyperostosis, Macrotia, Hypoplastic inferior il... ORPHA:61
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Pseudoepiphys... OMIM:105835
Wolfram-Like Syndrome, Autosomal Dominant
Hearing impairment, Optic atrophy OMIM:614296
Optic Atrophy 2
Optic atrophy OMIM:311050
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Larsen Syndrome
Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Accessory carpal bones, Large join... ORPHA:503
Pseudoaminopterin Syndrome
Clubbing of fingers, Hip subluxation, Pes planus, Postaxial polydactyly, Clinodactyly of the 5th ... ORPHA:221120
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Dolichocephaly, Protruding ear, Radioulnar synostosis, Hearing abnormality ORPHA:3270
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Madelung deformity, Limb undergrowth, Abnormality of the carpal bones, Short middl... ORPHA:319675
Pfeiffer Syndrome
Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Symphalangism affectin... ORPHA:710
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal phalanx of fin... ORPHA:2787
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Large fontanelles, Short palm... ORPHA:2511
Tetrasomy X
Hip dysplasia, Radioulnar synostosis, Joint hyperflexibility, Clinodactyly of the 5th finger, Bra... ORPHA:9
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Short stature OMIM:618572
Optic Atrophy 5
Optic atrophy OMIM:610708
Thai Symphalangism Syndrome
Small earlobe, Postaxial hand polydactyly, Hypoplastic helices, Distal symphalangism of hands, Sh... OMIM:608028
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, Delayed epip... ORPHA:93360
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Broad toe, Persistent open anterior fontanelle, Unusual dermatoglyphics, Clinodactyly of the 5th ... ORPHA:262767
Pentasomy X
Hip dysplasia, Camptodactyly of finger, Radioulnar synostosis, Low-set, posteriorly rotated ears,... ORPHA:11
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Upper limb asymmetry, Elbow ankylosis, Abnormal... ORPHA:3266
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Metaphyseal irregularity, Joint laxity, Carpal bone hypoplasia, Long ... OMIM:603546
Schinzel-Giedion Syndrome
Wormian bones, Camptodactyly, Abnormality of the stapes, Short distal phalanx of finger, Abnormal... ORPHA:798
Baller-Gerold Syndrome
Hypoplasia of the radius, Lambdoidal craniosynostosis, Conductive hearing impairment, Low-set, po... OMIM:218600
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Hearing impairment, Optic atrophy ORPHA:2732
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Short toe, Stiff shoulders, Hip osteoarthritis,... ORPHA:2619
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Broad foot, Genu valgum, Recurren... OMIM:250420
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Carpal osteolysis, Ank... OMIM:166300
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Short phalanx of finger, Distal symphalan... OMIM:606895
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Prominent metopic ridge OMIM:275595
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Toe clinodactyly, A... ORPHA:457395
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel, Atresia of the external auditory canal, Shortening of all ... OMIM:601356
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Fused fourth and fifth metacarpals, Toe syndactyly, Frontal bossing, ... OMIM:206920
Adenylosuccinate Lyase Deficiency
Low-set ears, Flat occiput, Brachycephaly, Prominent metopic ridge ORPHA:46
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Pes planus, Metatarsus adduct... OMIM:271640
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Profound hearing impairment, Equinovarus deformity, Congenital hip dislocatio... ORPHA:3078
Three M Syndrome 3
Hip dysplasia, Prominent calcaneus, Joint hypermobility, Frontal bossing, Midface retrusion, Slen... OMIM:614205
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Midface... OMIM:171480
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Craniosynostosis, Broad thumb, 1-3 toe syndactyly, Frontal bossi... OMIM:175700
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Postaxial oligodactyly, Carpal synostosis OMIM:609428
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Delayed cranial suture closure, Low-set ears, Large fontanelles ORPHA:1832
Baller-Gerold Syndrome
Frontal bossing, Large fontanelles, Conductive hearing impairment, Bowing of the long bones, Apla... ORPHA:1225
Merrf
Sensorineural hearing impairment, Short stature, Optic atrophy ORPHA:551
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Short stature, Postnatal growth retardation, Abdominal obesity OMIM:618160
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Pes planus, Sanda... OMIM:251450
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Wt Limb-Blood Syndrome
Short phalanx of finger, Radioulnar synostosis, Joint contracture of the 5th finger, Ulnar deviat... OMIM:194350
Char Syndrome
Low-set ears, Clinodactyly of the 5th finger, Protruding ear, Distal/middle symphalangism of 5th ... OMIM:169100
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Large fontanelles, Elbow dislocation, Talipes, Broad hallu... ORPHA:2249
Parietal Foramina With Cleidocranial Dysplasia
Parietal foramina, Symmetrical, oval parietal bone defects, Widely patent fontanelles and sutures... OMIM:168550
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Craniosynostosis, Tarsal synostosis, Radioulnar syno... OMIM:201750
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Frontal bossing, Hypoplastic sc... ORPHA:93333
Chondrodysplasia, Blomstrand Type
Accelerated skeletal maturation, Squared iliac bones, Advanced tarsal ossification, Stillbirth, G... OMIM:215045
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Low-set, posteriorly rotated ears, Small anterior fontanelle... ORPHA:3369
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
17Q24.2 Microdeletion Syndrome
Otosclerosis, Cubitus valgus, Upper limb undergrowth, Broad thumb, Midface retrusion, Recurrent o... ORPHA:529962
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Osteolysis, Synostosis of joints, El... ORPHA:321
Abruzzo-Erickson Syndrome
Short toe, Toe syndactyly, Radioulnar synostosis, Macrotia, Conductive hearing impairment, Sensor... ORPHA:921
Orofaciodigital Syndrome Type 1
Postaxial hand polydactyly, Tarsal synostosis, Preaxial hand polydactyly, Frontal bossing, Hand p... ORPHA:2750
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Joint laxity, Metaphyseal irregularity, Pes planus, ... OMIM:610797
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema, Progressive hearing impairment, Bilateral sensorine... OMIM:124950
Striatonigral Degeneration, Infantile
Optic atrophy, Failure to thrive OMIM:271930
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Delayed closure of the anterior fontanelle, Polydactyly, Upper limb asymmetry, Protruding ear, Lo... ORPHA:231140
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Distal Monosomy 17Q
Abnormal thumb morphology, Low-set, posteriorly rotated ears, Micromelia, Upper limb asymmetry, B... ORPHA:1597
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Wormian bones, Dislocated radial head, Increased bone mineral ... OMIM:614856
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Delayed ossification of carpal bones, Rest... ORPHA:93346
Infantile-Onset Spinocerebellar Ataxia
Hearing impairment, Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Wormian bones, Midface retrusion, Generalized osteoporosis, Brachyturricephaly, Pro... OMIM:613849
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Short toe, Short phalanx of finger, Tapered metacarpals, Midface retrusion, Carpa... OMIM:611717
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Combined Oxidative Phosphorylation Deficiency 51
Growth delay, Severe short stature, Hearing impairment, Small for gestational age, Intrauterine g... OMIM:619057
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy OMIM:600510
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Congenital stationary night blindness OMIM:616389
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Failure to thrive OMIM:616881
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Multiple joint dislocation, Joint laxity, Metaphyseal irregularity, Carpa... OMIM:618395
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Enlarged joints, Carpal bone hypoplasia, Severe carpal ossification de... OMIM:184252
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Delayed ossification of carpal bones, Lower limb undergrowth, Joint stif... OMIM:127200
Brachydactyly, Type B1
Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/Hypoplasia of the di... OMIM:113000
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Otosclerosis 10
Otosclerosis OMIM:615589
Vertical Talus, Congenital
Rocker bottom foot, Calcaneovalgus deformity, Equinus calcaneus, Arthritis OMIM:192950
Cutis Laxa, Autosomal Dominant 3
Wormian bones, Osteopenia, Low-set ears, Delayed cranial suture closure, Protruding ear, Talipes ... OMIM:616603
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Prominent calcaneus, Short toe, Conductive hear... ORPHA:2980
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Wormian bones, Foot acroosteolysis, Osteolysis, Abnormality of epiphysis... ORPHA:970
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Genu valgum, Irregular tarsal ossification, Irregular carpal bones, Hip subluxation... OMIM:226980
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Overfolded helix, Conductive hearing... ORPHA:2876
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Frontal bossing, Rhizomelia, Metaphyseal cupping of metacarpals, Hy... ORPHA:163966
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Onion bulb formation, Hearing impairment, Sensorineural hearing impairment, O... OMIM:311070
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Wormian bones, Wide anterior fontanel, Frontal bossing, Low-set ears, Posteriorly ... OMIM:614541
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormality of t... ORPHA:83468
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Abnormality of the calcaneus, Cupped ear, ... ORPHA:40366
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Stap... ORPHA:51608
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Acrocraniofacial Dysostosis
Genu valgum, Abnormality of the middle ear ossicles, Craniosynostosis, Abnormality of the malleus... ORPHA:949
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Short stature, Intrauterine growth retardation, Optic atrophy, Retinopathy, Opti... OMIM:616171
Antley-Bixler Syndrome
Camptodactyly of finger, Craniosynostosis, Frontal bossing, Talipes, Low-set, posteriorly rotated... ORPHA:83
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Pes planus, Interp... OMIM:259600
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Midface retrusion, Broad palm, Short finger, Metaphyseal cuppin... OMIM:300232
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Mesomelia-Synostoses Syndrome
Metacarpal synostosis, Mesomelia, Partial fusion of proximal row of carpal bones, Ulnar deviation... OMIM:600383
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Broad thumb, Toe syndactyly, Frontal bossing, Synostosis of carpal bones... ORPHA:1507
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Hearing impairment, Optic atrophy OMIM:309555
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me... OMIM:304120
Larsen Syndrome
Dislocated wrist, Multiple carpal ossification centers, Short metatarsal, Joint laxity, Frontal b... OMIM:150250
Osteogenesis Imperfecta, Type V
Wormian bones, Joint hypermobility, Pes planus, Recurrent fractures, Anterior radial head disloca... OMIM:610967
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity OMIM:616394
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Auditory Neuropathy And Optic Atrophy
Hearing impairment, Optic atrophy, Rod-cone dystrophy OMIM:617717
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Atresia of the extern... OMIM:614900
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor OMIM:615722
Dyggve-Melchior-Clausen Disease
Limited elbow extension, Genu valgum, Limited knee extension, Rhizomelia, Abnormal pelvis bone mo... ORPHA:239
Weaver Syndrome
Accelerated skeletal maturation, Broad thumb, Camptodactyly, Metatarsus adductus, Prominent finge... OMIM:277590
Premature Aging Syndrome, Penttinen Type
Wormian bones, Thin calvarium, Midface retrusion, Delayed skeletal maturation, Slender long bone,... OMIM:601812
Schneckenbecken Dysplasia
Advanced tarsal ossification, Metaphyseal irregularity, Stillbirth, Midface retrusion, Hypoplasti... OMIM:269250
Periventricular Nodular Heterotopia 7
Hearing impairment, Optic atrophy OMIM:617201
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Platybasia, Wormian bones, Moderate generalized osteoporosis, Abnormal joint morphology OMIM:166230
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Frontal bossing, Persisten... OMIM:265800
Hajdu-Cheney Syndrome
Foot acroosteolysis, Wormian bones, Dislocated radial head, Genu valgum, Osteoporosis, Joint laxi... OMIM:102500
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow internal auditory canal, Bila... ORPHA:794
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Midface retrusion, Overfolding of the su... ORPHA:313855
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Large fontanelles, Short palm, Bowing of... ORPHA:171839
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Genu recurvatum, D... OMIM:184260
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Short 2nd metacarpal, Upper limb phocomelia, Conductive hearing impairment, Apl... ORPHA:2878
Menkes Disease
Osteoporosis, Wormian bones, Tarsal synostosis, Chondrocalcinosis, Joint hyperflexibility, Bowing... ORPHA:565
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Pathologic fracture, Toe clinodactyly, Short foot, Dolicho... ORPHA:166277
Spinocerebellar Ataxia, Autosomal Recessive 12
Growth delay, Optic atrophy, Retinal degeneration OMIM:614322
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy, Short stature ORPHA:1513
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Squared iliac bones, Frontal bossing, Large fontanelles, Metaphyseal cupping, Low-... OMIM:613320
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Three M Syndrome 2
Prominent calcaneus, Scapular winging, Frontal bossing, Slender long bone, Clinodactyly, Protrudi... OMIM:612921
Potocki-Shaffer Syndrome
Wormian bones, Parietal foramina, Cutaneous syndactyly between fingers 2 and 5, Brachycephaly, Br... OMIM:601224
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Conductive hearing impairment, Rhizomelia, Atr... OMIM:602471
Usher Syndrome, Type Iiib
Hearing impairment, Optic disc pallor OMIM:614504
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Wormian bones, Brachydactyly, Camptodactyly of finger ORPHA:2863
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Postaxial hand polydactyly, Hypoplastic iliac wing, Capitate-ha... OMIM:225500
Osteogenesis Imperfecta, Type Iii
Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Platybasia, Decrease... OMIM:259420
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Drusen, Optic disc pallor OMIM:618632
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Thickened Achilles tendon, Abnormal hip joint morphology, ... ORPHA:85438
Coffin-Siris Syndrome 6
Wormian bones, Frontal bossing, Conductive hearing impairment, Low-set, posteriorly rotated ears,... OMIM:617808
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Wide anterior fontanel, Rhizomel... OMIM:228520
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Frontal bossing, Large fontanelles, Joint hyperf... ORPHA:2097
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:609260
Char Syndrome
Hand polydactyly, Toe syndactyly, Clinodactyly of the 5th finger, Hearing impairment, Mesoaxial h... ORPHA:46627
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Carpal bone hypoplasia, Split hand, Short long bone, So... OMIM:252600
Summitt Syndrome
Genu valgum, Camptodactyly of finger, Craniosynostosis, Short 4th metacarpal, Finger syndactyly, ... ORPHA:3210
Greenberg Dysplasia
Epiphyseal stippling, Short phalanx of finger, Sandal gap, Abnormal pelvis bone ossification, Uln... OMIM:215140
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Lessel-Kreienkamp Syndrome
Frontal bossing, Overfolded helix, Hypoplastic helices, Plagiocephaly, Hearing impairment, Wide c... OMIM:619149
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight, Macrotia ORPHA:1672
9P13 Microdeletion Syndrome
Abnormality of cartilage of external ear, Recurrent otitis media, Low-set ears, Joint stiffness, ... ORPHA:324313
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbow extension, Short ... OMIM:210720
Silver-Russell Syndrome
Lower limb asymmetry, Low-set, posteriorly rotated ears, Upper limb asymmetry, Sandal gap, Low-se... ORPHA:813
Mckusick-Kaufman Syndrome
Postaxial hand polydactyly, Tarsal synostosis, Finger syndactyly, Abnormality of the metacarpal b... ORPHA:2473
Wolfram-Like Syndrome
Abnormality of the pinna, Delayed puberty, Peripheral axonal neuropathy, Optic atrophy, Severe po... ORPHA:411590
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, Large fontanelles, Frontal bossing, Conductive hearing impairment, Flat occiput... ORPHA:2780
Cutis Laxa, Autosomal Recessive, Type Iiia
Wormian bones, Joint hypermobility, Congenital hip dislocation, Large fontanelles, Frontal bossin... OMIM:219150
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Abnormality of epiphysis morphology, Metacarpal osteolysis, ... ORPHA:2774
Ellis Van Creveld Syndrome
Cubitus valgus, Genu valgum, Hand polydactyly, Synostosis of carpal bones, Capitate-hamate fusion... ORPHA:289
Classical-Like Ehlers-Danlos Syndrome Type 2
Dislocated wrist, Joint hypermobility, Elbow dislocation, Radioulnar dislocation, Phalangeal disl... ORPHA:536532
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Craniometadiaphyseal Dysplasia
Cubitus valgus, Wormian bones, Genu valgum, Wide anterior fontanel, Broad long bones, Low-set ear... OMIM:269300
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Hearing impairment, Optic atrophy, Short stature, Facial diplegia OMIM:122860
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Abnormal bone ossification, Hemiatrophy of upper limb, Wid... ORPHA:163649
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Sensorineural hearing impairment... OMIM:616602
Eiken Syndrome
Midface retrusion, Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx o... OMIM:600002
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic... OMIM:300863
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu valgum, Severe conductive hearing impairment, Recurrent shoulder dislocation, Joint hypermob... ORPHA:230851
Mitochondrial Complex I Deficiency, Nuclear Type 34
Intrauterine growth retardation, Optic atrophy, Optic disc pallor OMIM:618776
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the middle phalanges of the hand, Humeroradial synostosis, Large fontanelle... OMIM:151050
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Stillbirth, Platybasia, Decreased calvarial ossification, Multiple prenatal fractu... OMIM:259410
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Sensorineural hearing impairment, Syndactyly, Proximal radio-ulnar s... OMIM:605432
Mohr Syndrome
Wormian bones, Partial duplication of the phalanges of the hallux, Postaxial hand polydactyly, Pr... OMIM:252100
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Sc phocomelia syndrome
Wormian bones, Aplasia of the ulna, Radial deviation of finger, Posteriorly rotated ears, Clinoda... OMIM:269000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Radioulnar synostosis, Sensorineural hearing impairment, Short middle phalan... OMIM:616738
Humeroradial Synostosis
Small earlobe, Humeroradial synostosis, Brachycephaly, Microtia OMIM:236400
Cleidocranial Dysplasia
Wormian bones, Large fontanelles, Abnormality of the metacarpal bones, Short clavicles, Osteoporo... ORPHA:1452
Lateral Meningocele Syndrome
Wormian bones, Abnormality of the middle ear ossicles, Joint hypermobility, Platybasia, Conductiv... OMIM:130720
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Hearing impairment, Facial palsy, Optic atrophy ORPHA:178377
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Low-set ears, Aplas... ORPHA:1988
Salt And Pepper Developmental Regression Syndrome
Hearing impairment, Optic atrophy, Failure to thrive OMIM:609056
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Optic neuritis, Peripheral demyelination OMIM:165200
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Chromosome 2P16.1-P15 Deletion Syndrome
Macrotia, Camptodactyly, Low-set ears, Posteriorly rotated ears, Metatarsus adductus, Sensorineur... OMIM:612513
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Optic atrophy, Failure to thrive OMIM:274270
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Genu valgum, Joint laxity, Limited knee extension, Pes pla... OMIM:304150
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Lambdoidal craniosynostosis, Wide anterior fontanel,... OMIM:207410
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Decreased body weight, Failure to thrive, Short stature, Intrauterine growth retardation, Optic a... OMIM:618346
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hearing impairment, Failure to thrive, Peripheral demyelination, Intrauterine growth retardation,... OMIM:618237
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of... ORPHA:1788
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy,... OMIM:616188
Melnick-Needles Syndrome
Frontal bossing, Craniofacial hyperostosis, Joint hyperflexibility, Bowing of the long bones, Sho... ORPHA:2484
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Lateral Meningocele Syndrome
Wormian bones, Abnormality of the middle ear ossicles, Craniofacial hyperostosis, Conductive hear... ORPHA:2789
Codas Syndrome
Genu valgum, Broad skull, Squared iliac bones, Congenital hip dislocation, Short phalanx of finge... OMIM:600373
Meier-Gorlin Syndrome 5
Small earlobe, Elbow dislocation, Delayed skeletal maturation, Low-set ears, Slender long bone, C... OMIM:613805
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Prominent calcaneus, Broad thumb, Frontal bossing, Generalized joint lax... ORPHA:251028
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Clinodactyly ... OMIM:604922
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the palmar creases, Macrotia, Calcaneovalgus deformity, Brachycephaly, Bilateral s... ORPHA:521445
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Retinal degeneration, Short stature, Optic atrophy, Rod-cone dystrophy OMIM:602271
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Thickened calva... OMIM:304950
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short femur, Flexion contracture, Limb undergrowth, Decreased fibular diameter, Lo... OMIM:616897
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Joint laxity, Cutaneous syndactyly, Pes planus, Flat acetab... OMIM:615777
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Bilateral single transverse palmar creases, Angulated antiheli... OMIM:618804
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Short stature, R... OMIM:251270
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Wide anterior fontanel, Midface retrusion, Low-set ears, Posteri... OMIM:601853
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Accelerated skeletal maturation, Craniosynostosis, Joint laxity, Phalangeal dislocation, Pes plan... OMIM:130070
Weiss-Kruszka Syndrome
Overfolded helix, Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Protrud... OMIM:618619
Filippi Syndrome
Intrauterine growth retardation, Decreased body weight, Optic atrophy, Postnatal growth retardation OMIM:272440
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy ORPHA:1171
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... ORPHA:50815
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Optic Atrophy 6
Optic atrophy OMIM:258500
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Pes planus, Calcaneovalgus deformity, Joint laxity OMIM:225320
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Pes planus, Bilate... OMIM:143095
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Short stature OMIM:619052
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Atresia of the external auditory canal, Short distal phal... OMIM:609166
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Oxycephaly, Hallux valgus, Radioulnar synostosis, Plagiocephaly, Low... OMIM:101400
Menkes Disease
Osteoporosis, Wormian bones, Joint laxity, Brachycephaly, Metaphyseal widening, Metaphyseal spurs OMIM:309400
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Short stature, Obesity OMIM:614947
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy, Failure to thrive OMIM:618229
Bartsocas-Papas Syndrome
Toe syndactyly, Synostosis of joints, Finger syndactyly, Talipes, Aplasia/Hypoplasia of the dista... ORPHA:1234
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Wormian bones, Osteoporosis, Joint laxity, Frontal bossing... ORPHA:2788
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Camos Syndrome
Optic atrophy ORPHA:83472
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Abnormality of the pinna, Low-set ears, Cupped ear, Hearing impairment, Flat aceta... OMIM:617159
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy ORPHA:496756
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Frontal bossing, Metaphyseal irregularity, Rickets,... OMIM:600081
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Peripheral axonal neuropathy ORPHA:468661
Craniosynostosis-Fibular Aplasia Syndrome
Wormian bones, Large fontanelles, Talipes, Midface retrusion, Low-set, posteriorly rotated ears, ... ORPHA:1533
Bruck Syndrome 2
Wormian bones, Flexion contracture, Osteopenia, Pterygium, Increased susceptibility to fractures,... OMIM:609220
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy ORPHA:2572
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Multiple Mitochondrial Dysfunctions Syndrome 6
Hearing impairment, Optic disc pallor, Failure to thrive OMIM:617954
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Failure to thrive OMIM:618228
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Irregular epiphyses, Narrow iliac... OMIM:610442
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Contractures-Developmental Delay-Pierre Robin Syndrome
Hip dysplasia, Radioulnar synostosis, Abnormality of finger, Overfolded helix, Overlapping toe, M... ORPHA:436003
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Conductive hearing impairment, Cervical C2/C3 vertebral fusi... OMIM:118100
Neurodegeneration With Brain Iron Accumulation
Optic atrophy, Retinopathy ORPHA:385
Juberg-Hayward Syndrome
Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Abnormality of finger, Abnormali... ORPHA:2319
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Accelerated skeletal maturation, Joint hypermobility, Multiple joint dislocation, Craniosynostosi... OMIM:245600
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Acheiropody
Absent hand, Absent forearm, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplasia of... OMIM:200500
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Optic Atrophy 9
Optic atrophy OMIM:616289
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Van Maldergem Syndrome 2
Short 4th metacarpal, Wide anterior fontanel, Short fourth metatarsal, Joint laxity, Midface retr... OMIM:615546
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Optic atrophy, Retinal vascular tortuosity OMIM:618768
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyporeflexia of lower limbs, Areflexia of lower limbs, Arthrogryposis multiplex congenita, Calcan... OMIM:162370
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Synostosis of joints, Abnormality of epiphysis morphology, Rhizo... ORPHA:50945
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Optic atrophy, Failure to thrive ORPHA:26792
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Coffin-Siris Syndrome 11
Uplifted earlobe, Small hand, Prominent metopic ridge, Frontal bossing OMIM:618779
Hunter-Macdonald Syndrome
Cubitus valgus, Large fontanelles, Midface retrusion, Conductive hearing impairment, Camptodactyl... OMIM:611962
Arthrogryposis, Distal, Type 5D
Arthrogryposis multiplex congenita, Camptodactyly, Adducted thumb, Calcaneovalgus deformity, Tali... OMIM:615065
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Sclerotic cranial sutures, Broad metacarpals, Osteolysis, Osteolysis involving bone... ORPHA:371428
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Wormian bones, Joint hypermobility, Pes planus, Recurrent fractures, Pes valgus, Co... OMIM:619131
Nescav Syndrome
Optic atrophy, Peripheral axonal neuropathy OMIM:614255
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Van Maldergem Syndrome 1
Short 4th metacarpal, Wide anterior fontanel, Short fourth metatarsal, Joint laxity, Midface retr... OMIM:601390
Isolated Oxycephaly
Papilledema ORPHA:63440
Hyperphosphatasia With Mental Retardation Syndrome 1
Midface retrusion, Delayed ossification of carpal bones, Plagiocephaly, Posteriorly rotated ears,... OMIM:239300
Leber Congenital Amaurosis 9
Attenuation of retinal blood vessels, Optic atrophy, Optic disc pallor, Macular coloboma OMIM:608553
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Talipes equinovalg... OMIM:605274
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Recurrent otitis media, Long foot OMIM:616831
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy OMIM:613162
Sweeney-Cox Syndrome
Wide anterior fontanel, Overfolded helix, Midface retrusion, Low-set ears, Cupped ear, Hearing im... OMIM:617746
Pontocerebellar Hypoplasia, Type 3
Macrotia, Decreased body weight, Hearing impairment, Short stature, Optic atrophy OMIM:608027
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures... OMIM:259440
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Equinovarus deformity, Midface retrusion, Camptodactyly, Broad long bones, Bowing of the long bon... OMIM:224400
Cofs Syndrome
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Short stature, Intrauterin... ORPHA:1466
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Sensorineural hearing impairment, Failure to thrive, Retinal dystrophy OMIM:614877
Pycnodysostosis
Wormian bones, Osteolysis, Frontal bossing, Abnormality of epiphysis morphology, Midface retrusio... ORPHA:763
Osteogenesis Imperfecta, Type Ii
Wormian bones, Large fontanelles, Broad long bones, Absent ossification of calvaria, Recurrent fr... OMIM:166210
Cednik Syndrome
Macrotia, Sensorineural hearing impairment, Short stature, Abnormality of peripheral nerve conduc... ORPHA:66631
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Frank-Ter Haar Syndrome
Hip dysplasia, Wormian bones, Osteoporosis, Simple ear, Wide anterior fontanel, Short phalanx of ... OMIM:249420
Grant Syndrome
Wormian bones, Down-sloping shoulders, Tibial bowing OMIM:138930
Bruck Syndrome
Osteoporosis, Wormian bones, Arthrogryposis multiplex congenita, Bowing of the long bones, Recurr... ORPHA:2771
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment OMIM:314600
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Delayed closure of the ante... OMIM:614008
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Growth delay, Peripheral vitreous opacities, Pseud... ORPHA:137902
Townes-Brocks Syndrome 1
3-4 toe syndactyly, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Macrotia, Overfoldi... OMIM:107480
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Cdags Syndrome
Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Parietal foramina, Sagittal cran... OMIM:603116
Immunodeficiency 49
Posteriorly rotated ears, Wormian bones OMIM:617237
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Growth delay, Protruding ear, Short stature, Intrauterine growth retardation, Optic atrophy ORPHA:1495
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Optic disc pallor, Optic atrophy OMIM:612989
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Small for gestational age, Failure to thrive OMIM:614702
Sclerosteosis
Sensorineural hearing impairment, Facial palsy, Optic atrophy ORPHA:3152
Infantile Refsum Disease
Hearing impairment, Sensorineural hearing impairment, Facial palsy, Failure to thrive, Short stat... ORPHA:772