Gene Summary

sprouty RTK signaling antagonist 4
sprouty4,  A030006O18Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Spry4tm1b(KOMP)Mbp HOM Early adult 9.47×10-19
brachydactyly Spry4tm1b(KOMP)Mbp HOM Early adult 6.61×10-08
abnormal digit morphology Spry4tm1b(KOMP)Mbp HOM   Early adult 1.07×10-13
decreased fasting circulating glucose level Spry4tm1b(KOMP)Mbp HOM Early adult 1.69×10-12
corneal opacity Spry4tm1b(KOMP)Mbp HOM   Early adult 5.68×10-06
short tibia Spry4tm1b(KOMP)Mbp HOM Early adult 6.23×10-08
abnormal cornea morphology Spry4tm1b(KOMP)Mbp HOM   Early adult 5.68×10-06
hyperactivity Spry4tm1b(KOMP)Mbp HOM Early adult 3.47×10-05

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Hind Leg and Hip

13 Images


XRay Images Whole Body Dorso Ventral

13 Images


XRay Images Skull Dorso Ventral Orientation

13 Images


XRay Images Forepaw

13 Images


XRay Images Whole Body Lateral Orientation

13 Images


XRay Images Skull Lateral Orientation

13 Images

Eye Morphology

Images Slit Lamp

5 Images

Human diseases caused by Spry4 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 Spry4 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Abnormality of the dentition OMIM:615266
Normosmic Congenital Hypogonadotropic Hypogonadism
Camptodactyly, Abnormality of the dentition, Delayed puberty, Cleft palate, Eunuchoid habitus ORPHA:432
Kallmann Syndrome
Cleft palate, Tooth agenesis ORPHA:478

The table below shows human diseases predicted to be associated to Spry4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Tooth Agenesis, Selective, 1
Hypodontia OMIM:106600
Anodontia Of Permanent Dentition
Anodontia OMIM:206780
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Malposition Of Teeth With Or Without Hypodontia/Oligodontia
Tooth malposition, Hypodontia OMIM:189490
Tooth Agenesis, Selective, 3
Oligodontia, Microdontia OMIM:604625
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Tooth Agenesis, Selective, 9
Selective tooth agenesis OMIM:617275
Canine Teeth, Absence Of Upper Permanent
Agenesis of canine OMIM:114600
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Proportionate short stature, Narrow iliac win... OMIM:601668
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature OMIM:616108
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... ORPHA:1453
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
Brachydactyly, Type A4
Talipes calcaneovalgus, Short middle phalanx of the 2nd finger, Type A brachydactyly, Congenital ... OMIM:112800
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Anonychia-Microcephaly Syndrome
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition, Bilateral single tra... ORPHA:1094
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Mandibular prognathia, Hypoplastic iliac wing, Abnormality of the dentition, Short... ORPHA:1858
Long-Thumb Brachydactyly Syndrome
Short finger, Long thumb, Brachydactyly OMIM:112430
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Broad thumb, Broad hallux, Syndactyly, Retrognathia, Increased over... OMIM:613684
Dermochondrocorneal Dystrophy
Abnormality of the hand, Large hands, Abnormal foot morphology, Corneal dystrophy ORPHA:79149
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... OMIM:611702
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Corneal op... OMIM:277950
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Thiemann Disease, Familial Form
Abnormality of the metaphysis, Brachydactyly, Abnormality of epiphysis morphology ORPHA:3314
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Brachydactyly, Combined B And E Types
Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ... OMIM:112440
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... OMIM:611263
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Taurodontia OMIM:272700
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger OMIM:190680
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Thick vermilion border, Short 1s... OMIM:601957
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Small for gestational age, Abnormal h... ORPHA:294975
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Gombo Syndrome
Clinodactyly, Brachydactyly, Radial deviation of finger OMIM:233270
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Supernumerary tooth, Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:3145
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of the dentition, Supernumerary tooth ORPHA:1264
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Talipes equinovalgus, Adducted thumb, Sandal gap, Ulnar devia... OMIM:618435
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger ORPHA:1471
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly OMIM:615995
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G... OMIM:614669
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Symphalangism aff... ORPHA:3237
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short distal phalanx of finger OMIM:155050
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Abnormality of the metacarpal bones ORPHA:1078
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Short metacar... OMIM:226900
Mcdonough Syndrome
Open bite, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Bilateral single tr... ORPHA:2471
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Deep ph... OMIM:605282
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Broad thumb, Dental crowding, Abnormality of the dentition, Mesomelia, Short dista... OMIM:616331
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Corneal opacity, Abnormality of the metacarpal bones, Abnormality of the metaphysi... ORPHA:2370
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Elbow dislocatio... ORPHA:2741
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Short foot,... OMIM:264475
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Swan neck-like deformities of the fingers, Abnormality of the maxilla, Dispr... ORPHA:329252
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Rhizomelia, Hypoplastic inferior ilia, Short finger, Metaphyseal cuppin... OMIM:608940
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Acrootoocular Syndrome
Small hypothenar eminence, Grayish enamel, Sandal gap, Small for gestational age, High, narrow pa... ORPHA:2980
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Limited elbow extension, Aplasia/hypoplasia of the extremities, Short long bone, Flared metaphysi... OMIM:146000
Smith-Magenis syndrome
Brachydactyly, Hyperactivity DECIPHER:8
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Slender long bone, Short stature... OMIM:616202
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Dermoids Of Cornea
Corneal opacity OMIM:304730
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Delayed eruption of teeth, Dislocated radial head, Camptodactyly of fin... OMIM:612350
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... OMIM:113450
Atkin-Flaitz Syndrome
Genu valgum, Broad palm, Short palm, Maxillary lateral incisor microdontia, Short stature, Exagge... OMIM:300431
Muenke Syndrome
Broad thumb, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of finger, ... OMIM:602849
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Chromosome 8Q22.1 Duplication Syndrome
Short stepped shuffling gait, Cubitus valgus, Broad thumb, Enlarged interphalangeal joints, Short... OMIM:151200
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteoporotic tarsals, B... OMIM:609052
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Shor... OMIM:263540
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Cubitus valgus, Camptodactyly of finger, Scapular winging, Toe syndactyly, Narrow mout... ORPHA:1327
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Disproportionate short stature, Metaphyseal chondrodysplasia, Abnor... ORPHA:2501
Clark-Baraitser syndrome
Genu valgum, Broad palm, Short palm, Maxillary lateral incisor microdontia, Exaggerated median to... OMIM:300602
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Peters anomaly, Syndactyly, Brac... OMIM:610023
Tibial Aplasia-Ectrodactyly Syndrome
Postaxial hand polydactyly, Short femur, Preaxial hand polydactyly, Abnormality of femur morpholo... ORPHA:3329
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Clinodactyly, Micrognathia, Radial deviation of finger OMIM:608747
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Microdontia, Supernumerary tooth OMIM:191482
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Talipes, Elbow ankylosis, Corneal opa... ORPHA:2557
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Talipes equinovalgus, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Three M Syndrome 2
Prominent calcaneus, Long philtrum, Delayed eruption of teeth, Short 5th finger, Scapular winging... OMIM:612921
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Flattened femoral head, Waddling gait, Double-layered patella, Abn... ORPHA:166011
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split hand, Split foot, Cleft palate, Micrognathia, Malar flattening OMIM:183700
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal OMIM:112410
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Abnormality of the elbow, ... ORPHA:3268
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Fanconi Anemia, Complementation Group S
Narrow palate, Thick upper lip vermilion, Proximal placement of thumb, Clinodactyly, Short statur... OMIM:617883
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Abnormality of the dentition OMIM:615266
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachydactyly, Short metatarsal, Ataxia, Short metacarpal OMIM:113400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Tetrasomy X
Hip dysplasia, Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis ORPHA:9
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Symphalangism, Distal
Brachydactyly, Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal... OMIM:185700
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, Flared metaphys... OMIM:607095
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Absent forearm, Overlapping toe, Micrognathia, Fibular hypoplasia, Clinodactyly, 11... OMIM:201170
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Finger clinodactyly, Periapical tooth abscess, Agenesis of incis... ORPHA:3352
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Diastema, Brachydactyly, Short stature, Dental malocclusion, Micrognathia, Malar flattening ORPHA:436245
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Non-... ORPHA:2919
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Mcdonough Syndrome
Short philtrum, Mandibular prognathia, Radial deviation of finger, Furrowed tongue, Clinodactyly,... OMIM:248950
Oliver Syndrome
Camptodactyly of finger, Short philtrum, Postaxial hand polydactyly, Mandibular prognathia, Posta... ORPHA:2920
Banki Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... ORPHA:1228
Seckel Syndrome 1
Enamel hypoplasia, Dental crowding, Proportionate short stature, Postnatal growth retardation, Sa... OMIM:210600
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Intrauterine growth retardation, Microdontia, Widely spaced teeth, Postnatal growth retardation OMIM:233810
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Short phalanx of finger, Cataract, Epiphyseal dysplasia, Brachydactyly, Coxa valga OMIM:132450
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Narrow palate, Short metatarsal, Ivory epiphyses of the distal phalanges of the ha... OMIM:190350
Mental Retardation, Buenos Aires Type
Carious teeth, Mandibular prognathia, Wide mouth, Thin upper lip vermilion, Failure to thrive, Hi... OMIM:249630
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Difficulty walking, Short 5th metacarpal, 3-4 finge... ORPHA:370010
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Cataract, Congenital bilateral hip dislocation, Hyperactivity ORPHA:85288
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Corneal opacity ORPHA:351
Mohr Syndrome
Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palate, Micrognathia... OMIM:252100
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... OMIM:617927
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Bardet-Biedl Syndrome 7
Polydactyly, Obesity OMIM:615984
Feingold Syndrome Type 2
Short middle phalanx of finger, Brachydactyly, Toe syndactyly, Short thumb ORPHA:391646
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Growth delay, Hypodontia, Microg... OMIM:253250
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Ataxia, Corneal dystrophy OMIM:271310
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped carpal bones, ... ORPHA:968
Craniosynostosis 3
Brachydactyly, Hallux valgus, Single transverse palmar crease OMIM:615314
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Open bite, Hip dysplasia, Macroglossia, Narrow palate, Craniofacial hyperostosis, Hypoplastic inf... ORPHA:61
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth retardation, Severe sh... OMIM:618728
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Syndactyly, Joint contracture of the hand, Selective tooth agenesis, M... OMIM:225280
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Femoral bowing, Thickened corte... OMIM:601559
Chromosome 20Q11-Q12 Deletion Syndrome
Finger clinodactyly, Tarsal osteovalgus, Camptodactyly, Adducted thumb, Brachydactyly OMIM:614257
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, 3-4 toe syndactyly, Oligodontia, Persistence of primary teeth, Sandal gap, Bro... OMIM:618727
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short metatarsal, Short stature, Short metacarpal, Brachy... OMIM:613382
Nance-Horan Syndrome
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth ORPHA:627
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Opacification of the corneal stroma, ... ORPHA:98960
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Metaphyseal Acroscyphodysplasia
Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Abnormal diaphy... ORPHA:1240
Filippi Syndrome
Short philtrum, Thin vermilion border, Cutaneous syndactyly, Abnormality of dental morphology, Fi... OMIM:272440
Short 4th metacarpal, Short metatarsal, Short 5th metacarpal, Short distal phalanx of the thumb, ... ORPHA:79445
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Cooks Syndrome
Split hand, Triphalangeal thumb, Broad thumb, Brachydactyly ORPHA:1487
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Corneal opacity, Limb undergrowth, Short ribs, Coarse metaphyseal trabecular... OMIM:618961
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Polydactyly, Upper limb asymmetry, Postnatal growth retardation, Decreased body ... ORPHA:231140
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Morquio Syndrome C
Corneal opacity OMIM:252300
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Corneal opacity, Cataract, Diabetes mellitus, Brachydactyly, ... ORPHA:317
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Abnormal foot... OMIM:300244
Charlie M Syndrome
Triphalangeal thumb, Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Spli... ORPHA:1406
Larsen-Like Syndrome
Radial deviation of the 4th finger, Short stature, Cleft palate, Talipes equinovarus, Dental malo... OMIM:608545
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Cohen Syndrome
Genu valgum, Short philtrum, Cubitus valgus, Short metatarsal, Open mouth, Narrow palm, Macrodont... OMIM:216550
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Waddling gait, Brachydactyly OMIM:618392
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Downturned corners of mouth, Acromicria, Postnatal growth retardation, Clinodactyly, Small hand, ... ORPHA:254525
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Eiken Syndrome
Cubitus valgus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Broad palm, Short f... ORPHA:79106
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, U... ORPHA:93387
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Tongue nodules, Preaxial ... OMIM:277170
Laurence-Moon Syndrome
Hand polydactyly, Finger syndactyly, Iris coloboma, Bilateral single transverse palmar creases, A... ORPHA:2377
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Genu valgum, Camptodactyly of finger, Scapular winging, Persistence of... OMIM:305620
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus, Short stature OMIM:613681
Brachyolmia Type 1, Toledo Type
Short femoral neck, Gait disturbance, Opacification of the corneal stroma, Broad tibial metaphyses OMIM:271630
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Brachydactyly, Ectopia lentis OMIM:613195
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
2q37 monosomy
Brachydactyly DECIPHER:44
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Finger syndactyly, Ectrodactyly, Selective tooth... ORPHA:1897
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dental malocclusion OMIM:608931
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Limited elbow extension and supination, Clinodact... OMIM:244600
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Short 5th metacarpal, Short toe, Clinodactyly of the 5th finger, Brachydactyly OMIM:604381
Bardet-Biedl Syndrome 22
Polydactyly, Obesity OMIM:617119
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Hyperglycemia, Polydactyly, Postaxial polydactyly, Cataract, Syndacty... OMIM:615986
Potocki-Lupski Syndrome
Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Small for gestational age, S... OMIM:610883
Short Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Enlarged epiphyses, Hypodontia, Radial de... OMIM:269880
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Everted lower lip vermilion, Mandibular prognathia, Thick vermilion border, Short stature, Dental... OMIM:603463
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1795
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Osteolytic defects of the distal phalanges of the hand, Delayed eruption of primary teeth, Cariou... OMIM:265800
Emery-Nelson Syndrome
Camptodactyly of finger, Abnormal thumb morphology, Contractures of the interphalangeal joint of ... ORPHA:1927
Limited elbow extension, Trident hand, Rhizomelia, Bowing of the legs, Flared metaphysis, Genu va... OMIM:100800
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Small for... OMIM:101800
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Short stature, Cleft pal... OMIM:615502
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Wide mouth, Thick upper lip vermilion, Postnatal growth retardation, Thick... OMIM:309545
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Broad philtrum, Congenital finger flexion contractures, High, narrow ... ORPHA:166108
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Brachydactyly, Clinodactyly, Micrognathia, Tapered finger, Attention deficit ... OMIM:617061
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Harrod Syndrome
Narrow mouth, Abnormal shoulder morphology, Failure to thrive, Intrauterine growth retardation, H... ORPHA:2115
Bardet-Biedl Syndrome 12
Polydactyly, Obesity OMIM:615989
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Severe short stature, Cutaneous finger sy... OMIM:203550
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Mic... ORPHA:1278
Nance-Horan Syndrome
Mulberry molar, Short phalanx of finger, Diastema, Screwdriver-shaped incisors, Supernumerary max... OMIM:302350
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Talipes calcaneovalgus, Camptodactyly, Adducted thumb, Brachydactyly ORPHA:444051
Immunodeficiency 8
Hyperactivity OMIM:615401
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Pyle Disease
Delayed eruption of teeth, Carious teeth, Limited elbow extension, Genu valgum, Mandibular progna... OMIM:265900
Short toe, Abnormality of the elbow, Bowing of the long bones, Genu varum, Abnormality of femur m... ORPHA:429
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Waddling gait, Double-layere... ORPHA:93307
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Heart-Hand Syndrome Type 3
Short middle phalanx of finger, Short toe, Brachydactyly, Abnormality of the metacarpal bones ORPHA:1342
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Large for gestational age, Short sternum, ... ORPHA:2563
Desbuquois Dysplasia 1
Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Pes planus, Sandal gap, Flat ac... OMIM:251450
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Unilateral cleft lip, Supernumerary tooth, High, narrow palate, Micrognathia, Malar ... ORPHA:1787
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Bifid uvula, High palate, Thick lower lip... OMIM:617412
Corneodermatoosseous Syndrome
Short distal phalanx of finger, Brachydactyly, Palmoplantar hyperkeratosis, Corneal dystrophy OMIM:122440
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Anterior open-bite malocclusion, Sup... ORPHA:3473
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Small hand, Cutaneous syndactyly between fingers 2 and 5, Ab... OMIM:619339
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Brachydac... OMIM:193530
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of the maxilla OMIM:614188
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Short 5th met... OMIM:617877
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, Abnormality of the de... ORPHA:210110
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Gait disturbance, Ulnar deviation of finger, Abnormality of pelvic girdl... ORPHA:2928
Kabuki Syndrome 2
Natal tooth, Postnatal growth retardation, Hypodontia, Intrauterine growth retardation, Decreased... OMIM:300867
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly ORPHA:1937
Trichorhinophalangeal Syndrome, Type Iii
Long philtrum, Dental crowding, Smooth philtrum, Thin upper lip vermilion, Supernumerary tooth OMIM:190351
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly, Obesity OMIM:605231
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Duplication of metatarsal bon... OMIM:600384
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly, Short stature OMIM:618123
Silver-Russell Syndrome 3
Finger clinodactyly, Decreased body weight, Syndactyly, Short stature, Retrognathia OMIM:616489
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Waddling gait, Short l... OMIM:186500
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Syndactyly, Brachydactyly, Obesity OMIM:615982
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
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger ORPHA:2787
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Intellectual Disability, Buenos-Aires Type
Open bite, Abnormality of dental morphology, Mandibular prognathia, Short stature, High palate, D... ORPHA:3079
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Cone-shaped epiphysis, Short metacarpal, Hyperactivity... OMIM:614613
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, Postnatal growth retardation, High palate, Micrognath... ORPHA:251028
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Abnormality o... ORPHA:2768
Mucolipidosis Type Iii
Hypoplastic inferior ilia, Large iliac wing, Abnormal hip bone morphology, Corneal opacity ORPHA:577
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Open mouth, Dental crowding, 2-3 toe syndactyly, 3-4 finger syndactyly, Shovel-shaped maxillary c... OMIM:600906
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb ORPHA:435804
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Abnormal femoral head morphology, Abnormality o... ORPHA:2619
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... OMIM:177170
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Abnormal palate morphology, Deep philtrum, Abnormality of the dentition, Thin uppe... ORPHA:502
Aminopterin Syndrome Sine Aminopterin
Oligodontia, Decreased body weight, Brachydactyly, Rudimentary postaxial polydactyly of hands, Cl... OMIM:600325
Hamamy Syndrome
Hip dysplasia, Long philtrum, Down-sloping shoulders, Wide mouth, Smooth philtrum, Hypodontia, Cl... OMIM:611174
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening OMIM:608257
Isolated Brachycephaly
Metacarpal synostosis, Brachydactyly ORPHA:35099
Marshall Syndrome
Radial bowing, Long philtrum, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin seq... OMIM:154780
Spastic Paraplegia 20, Autosomal Recessive
Difficulty walking, Camptodactyly, Ankle clonus, Clinodactyly, Spastic gait, Pes cavus, Dysmetria... OMIM:275900
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Short metatarsal OMIM:113301
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short foot, Short metacarpal, Patellar dislocation, Micrognathia, Brachyd... OMIM:614078
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Short sternum, Smooth philtrum, Large hand... OMIM:157980
Abruzzo-Erickson Syndrome
Toe syndactyly, Radioulnar synostosis, Iris coloboma, Microcornea, Ulnar deviation of finger, Sho... ORPHA:921
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Metatropic Dysplasia
Long coccyx, Flared femoral metaphysis, Abnormal metaphyseal vascular invasion, Short finger, Dum... OMIM:156530
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly ORPHA:2150
Short Stature-Obesity Syndrome
Limb undergrowth, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia OMIM:269870
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth... OMIM:617102
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Split hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Short metatarsal, Type B brac... OMIM:106990
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Leri Pleonosteosis
Cubitus valgus, Camptodactyly of finger, Broad thumb, Abnormality of finger, Elbow dislocation, A... ORPHA:2900
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Scapular winging, Microretrognathia, Down-sloping shoulders, Clinodactyly, Dental ... OMIM:615560
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Short stature, Postnatal growth retardation, Abdominal obesity OMIM:618160
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Triphalangeal thumb, Toe syndactyly, Brachydactyly OMIM:124480
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Jansen-De Vries Syndrome
Small hand, Short foot, Brachydactyly, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617450
Trichorhinophalangeal Syndrome Type 1 And 3
Long philtrum, Long upper lip, Abnormality of the dentition, Supernumerary tooth, High palate, Mi... ORPHA:77258
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short foot, Small hand, Hyperactivity, Talipes equinovarus, Hip dislocation OMIM:300434
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal irregularity, Carpal bone hypoplasia, Broad foot, Anterior polar cataract, Genu valgu... OMIM:250420
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Brachydactyly, Ataxia OMIM:618879
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Micrognathia, Corneal opacity, Abnormality of the humerus, Adducted thum... ORPHA:1794
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Hip dysplasia, Short philtrum, Talipes equinovarus, Drooling, Wide mouth, Shor... OMIM:619293
Cri-Du-Chat Syndrome
Short philtrum, Short metatarsal, Downturned corners of mouth, Microretrognathia, Growth delay, O... OMIM:123450
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Micrognathia, Forearm undergrowth, Absent radius, Talipes ... OMIM:251230
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Postnatal growth retardation, Short stature, Short toe, Retrognathia, Shor... OMIM:612947
Temtamy Syndrome
Micrognathia, Pes planus, Iris coloboma, Genu varum, Short toe, Clinodactyly of the 5th finger, B... ORPHA:1777
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Harrod Syndrome
Narrow mouth, Dental malocclusion, Failure to thrive, High palate, High, narrow palate, Arachnoda... OMIM:601095
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Finger swelling OMIM:252700
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Taurodontia, Finger syndactyly, Rhizomelia, Everted lower lip ... ORPHA:1515
Microphthalmia With Limb Anomalies
Talipes equinovarus, Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpa... OMIM:206920
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Waddling gait, Broad hallux, Brachydactyly, Short thumb OMIM:165800
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Acromicric Dysplasia
Abnormality of femur morphology, Abnormality of epiphysis morphology, Fifth metacarpal with ulnar... ORPHA:969
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Genu valgum, Abnormality of tibia morphology, Abnormality of femur morph... ORPHA:2496
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Loss of ability to walk, Corneal opacity, Crumpled long bo... ORPHA:2788
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Overlapping fingers, Long philtrum, Overlapping toe, Mandibular prognathia, Smooth philtrum, Tent... OMIM:618975
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulna... ORPHA:1319
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Abnormality of dental morphology, Palmoplantar keratoderma, Finger synda... ORPHA:2251
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Brachydactyly OMIM:301026
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Rhizomelia, Short humerus, Coxa vara, Short metacarpal, Brac... ORPHA:2831
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Genu valgum, Cubitus valgus, Conical incisor, H... ORPHA:289
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Brachydactyly, Broad thumb, Corneal dystrophy OMIM:617763
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Mesomelia, Shortening of all metacarpals, Limb undergrowt... OMIM:601356
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly, Advanced eruption of teeth ORPHA:2266
Deafness-Intellectual Disability Syndrome, Martin-Probst Type