| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Dens In Dente And Palatal Invaginations |
|
Abnormality of the dentition, Dens in dente |
OMIM:125300 |
| Dens Evaginatus |
|
Talon cusp, Abnormality of the dentition |
OMIM:125280 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Pulp calcification, Taurodontia, Microdontia |
OMIM:313490 |
| Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia |
OMIM:604625 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:615887 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
| Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta |
OMIM:301200 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Incisors, Rotation Of Upper Central |
|
Rotated maxillary central incisors |
OMIM:147350 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:614832 |
| Diastema, Dental Medial |
|
Diastema, Widely-spaced maxillary central incisors |
OMIM:125900 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Brachydactyly, Type D |
|
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux |
OMIM:113200 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Generalized microdontia, Amelogenesis imperfecta |
OMIM:104530 |
| Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
| Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormality of finger |
OMIM:187390 |
| Sugarman Brachydactyly |
|
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... |
OMIM:272150 |
| Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
| Brachydactyly, Type A3 |
|
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... |
OMIM:112700 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta |
OMIM:612529 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta |
OMIM:617217 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Familial Digital Arthropathy-Brachydactyly |
|
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
| Long-Thumb Brachydactyly Syndrome |
|
Long thumb, Brachydactyly, Short finger |
OMIM:112430 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Taurodontia, Oligodontia |
OMIM:272980 |
| Teeth, Supernumerary |
|
Supernumerary tooth, Mesiodens |
OMIM:187100 |
| Syndactyly Type 3 |
|
Short toe, Camptodactyly of finger, Finger syndactyly |
ORPHA:93404 |
| Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... |
OMIM:616221 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104510 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Mental Retardation, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
| Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion |
OMIM:130900 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... |
OMIM:606835 |
| Cleidorhizomelic Syndrome |
|
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... |
ORPHA:1453 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... |
OMIM:615072 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... |
OMIM:186550 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Cutaneous syndactyly |
OMIM:616890 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly |
OMIM:176305 |
| Thiemann Disease, Familial Form |
|
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly |
ORPHA:3314 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot |
OMIM:190680 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Type A brachydactyly, Short middle phalanx of the 2n... |
OMIM:112800 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... |
OMIM:204650 |
| Amelogenesis Imperfecta, Type Iiic |
|
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... |
OMIM:618386 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Postaxial Tetramelic Oligodactyly |
|
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger |
ORPHA:2730 |
| Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... |
OMIM:186350 |
| Brachydactyly Type A2 |
|
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... |
ORPHA:93396 |
| Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... |
OMIM:607004 |
| Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... |
ORPHA:1891 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... |
OMIM:185750 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
| Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
| Pierre Robin Syndrome And Oligodactyly |
|
Micrognathia, Cleft palate, Hand oligodactyly, Pierre-Robin sequence |
OMIM:172880 |
| Syndactyly Type 5 |
|
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
| Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
| Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Abnormality of the metacarpal bones, Type A brachydactyly |
ORPHA:1078 |
| Brachydactyly, Type A1 |
|
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... |
OMIM:112500 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... |
ORPHA:1228 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Brachydactyly, Type A2, With Microcephaly |
|
Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger, Type A2 brachydactyly,... |
OMIM:211369 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Wahab Syndrome |
|
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... |
OMIM:615170 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Enamel hypoplasia |
OMIM:614564 |
| Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Short lon... |
OMIM:611702 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Otodental Dysplasia |
|
Hypodontia, Pulp calcification, Taurodontia, Long philtrum |
OMIM:166750 |
| Laryngoonychocutaneous Syndrome |
|
Amelogenesis imperfecta |
OMIM:245660 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
| Brachydactyly Type B2 |
|
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... |
ORPHA:140908 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the ulna, Micrognathia, Hand oligodactyly, Cleft palate, Glossoptosis, Abnormality... |
ORPHA:3104 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
| Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Brachydactyly, Combined B And E Types |
|
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... |
OMIM:112440 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
| Brachydactyly, Type A2 |
|
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... |
OMIM:112600 |
| Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... |
OMIM:611263 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... |
OMIM:313500 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
| Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding |
OMIM:600907 |
| Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Polydactyly, Postaxial, Type A6 |
|
Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
| Split-Hand/Foot Malformation 2 |
|
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Abnorm... |
ORPHA:1094 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79406 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... |
ORPHA:157801 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618498 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Cutaneous syndactyly, Talipes equinovarus |
OMIM:613681 |
| Cooks Syndrome |
|
Triphalangeal thumb, Dystrophic fingernails, Dystrophic toenail, Split hand, Broad thumb, Brachyd... |
ORPHA:1487 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Multiple Synostoses Syndrome |
|
Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral single transv... |
ORPHA:3237 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Small epiphyses, Discolored lateral incisors, Oligodontia, Tapered finger, Me... |
OMIM:601668 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Type D brachydactyly, Short thumb |
OMIM:306980 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger |
ORPHA:1471 |
| Brachydactyly Type A7 |
|
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... |
ORPHA:93397 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... |
ORPHA:93384 |
| Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79405 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... |
ORPHA:93409 |
| Arthrogryposis, Distal, Type 2B2 |
|
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... |
OMIM:618435 |
| Hypochondroplasia |
|
Genu varum, Malar flattening, Limited elbow extension, Abnormality of pelvic girdle bone morpholo... |
OMIM:146000 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Micrognathia, High palate, Rocker bottom foot, Talipes equinovarus, Facial diplegia, Ha... |
OMIM:611890 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... |
OMIM:186570 |
| Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Enamel hypoplasia |
OMIM:202900 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... |
OMIM:609432 |
| Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly |
OMIM:112410 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis mor... |
ORPHA:2501 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Split-Hand/Foot Malformation 1 |
|
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... |
OMIM:183600 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Brachydactyly, Absent dorsal skin creases over affected joints, Di... |
OMIM:185700 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Microdontia, Oligodontia, Short finger, Supernumerary tooth, Short proximal phalanx of finger, Sh... |
OMIM:191482 |
| Eiken Syndrome |
|
Abnormal acetabulum morphology, Limited elbow flexion, Thin bony cortex, Narrow pelvis bone, Meta... |
ORPHA:79106 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly |
ORPHA:2935 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Oligodontia, Supernumerary tooth, Abnormality of the dentition, Brachydacty... |
ORPHA:1264 |
| Otodental Syndrome |
|
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
| Asbestos Intoxication |
|
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... |
ORPHA:2302 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... |
OMIM:226900 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Craniosynostosis 3 |
|
Hallux valgus, Low anterior hairline, Brachydactyly, Single transverse palmar crease |
OMIM:615314 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Carious teeth, Micrognathia, Smooth philtrum, Midline notch of upper alveolar ridge, Malar flatte... |
OMIM:129540 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Mandibular prognathia, Kyphosis, Hip dysplasia, Short distal phalanx of f... |
ORPHA:1858 |
| Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
| Tetramelic Monodactyly |
|
Foot monodactyly, Hand monodactyly, Split foot, Split hand |
OMIM:187510 |
| Fryns Macrocephaly |
|
Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Knee flexion cont... |
OMIM:600302 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
| Tricho-Dento-Osseous Syndrome |
|
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De... |
ORPHA:3352 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
| Tetrasomy X |
|
Hip dysplasia, Premature ovarian insufficiency, Abnormality of the dentition, Clinodactyly of the... |
ORPHA:9 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia |
OMIM:616029 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Nail dystrophy, Triphalangeal thumb, Brachydactyly |
OMIM:124480 |
| Anauxetic Dysplasia 1 |
|
Small epiphyses, Hypodontia, Short finger, Rhizomelia, Platyspondyly, Delayed ossification of car... |
OMIM:607095 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon, Unilateral renal agenesis |
OMIM:235740 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... |
ORPHA:1275 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion |
OMIM:119540 |
| 17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Heart-Hand Syndrome Type 3 |
|
Abnormality of the metacarpal bones, Short middle phalanx of finger, Brachydactyly, Short toe |
ORPHA:1342 |
| Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:1795 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Cleft palate, Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnorma... |
ORPHA:294975 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... |
OMIM:113450 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
| Camptobrachydactyly |
|
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... |
ORPHA:1319 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synophrys |
OMIM:612001 |
| Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... |
ORPHA:363417 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
| Stimmler Syndrome |
|
Abnormal dental enamel morphology, Microdontia |
ORPHA:3199 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal palate morphology, Micrognathia, Mesomelia, Tooth agenesis, Brachydactyly, Abnormal shou... |
ORPHA:1277 |
| Epidermolysis Bullosa, Junctional, Herlitz Type |
|
Carious teeth, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi... |
OMIM:609052 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
OMIM:256690 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Ureteral atresia, Bilateral renal agenesis, Unilateral renal agenesis |
OMIM:618845 |
| Jalili Syndrome |
|
Carious teeth, Amelogenesis imperfecta |
OMIM:217080 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Tapered finger, Alopecia totalis, Acrocyanosis, Death in childhood |
OMIM:302000 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Polydactyly |
OMIM:605231 |
| Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
2-3 toe syndactyly, Long eyelashes, Partial duplication of eyebrows, 2-4 finger syndactyly |
OMIM:227210 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... |
OMIM:600785 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Irregular vertebral endplates, Bowing of the legs, Lower limb undergrowth, ... |
OMIM:612847 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
| Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Enamel hypoplasia, Anodontia |
OMIM:275450 |
| Proximal Symphalangism |
|
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... |
ORPHA:3250 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
| Brachydactyly, Type E2 |
|
Oligodontia, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Brachydactyly |
OMIM:613382 |
| Isolated Split Hand-Split Foot Malformation |
|
Absent hand, Oligodactyly, Split hand, Finger syndactyly |
ORPHA:2440 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Arachnodactyly, Humeroradial synostosis |
OMIM:614416 |
| Pycnodysostosis |
|
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Osteolytic defects ... |
OMIM:265800 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... |
OMIM:601438 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short 5th metacarpal, Short finger, Short toe, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:604381 |
| Orofaciodigital Syndrome Type 10 |
|
Accessory oral frenulum, Prominent calcaneus, Short toe, Radial deviation of the hand, Short tibi... |
ORPHA:2756 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Short finger, Long ph... |
OMIM:190351 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Cleft palate, High palate, Respiratory insufficiency, Talipes equinovarus, Facial palsy, Respirat... |
OMIM:614399 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Scarring alopecia of scalp, Atrophic scars, Oral mucosal blisters |
ORPHA:79402 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly |
OMIM:114150 |
| Multiple Synostoses Syndrome 3 |
|
Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad thumb, Cutaneou... |
OMIM:612961 |
| Emery-Nelson Syndrome |
|
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Low po... |
ORPHA:1927 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
| Charlie M Syndrome |
|
Micrognathia, Triphalangeal thumb, Short philtrum, Thin vermilion border, Finger syndactyly, Abno... |
ORPHA:1406 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta |
ORPHA:2956 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Micrognathia, Respiratory insufficiency, Neonatal death, Renal cyst, Syndactyly... |
OMIM:228940 |
| Pyle Disease |
|
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Metaphyseal widening, Mandibul... |
OMIM:265900 |
| Multiple Metaphyseal Dysplasia |
|
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... |
ORPHA:93430 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Micrognathia, High palate, Hypodontia, Tapered finger, Kyphosis, Thick vermil... |
OMIM:617061 |
| Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
|
Short metatarsal, Nail dystrophy, Split hand, Aplasia/Hypoplasia of the distal phalanges of the h... |
OMIM:106990 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb |
ORPHA:2150 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... |
ORPHA:750 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Synostosis of carpal b... |
OMIM:102510 |
| Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
| Hypochondroplasia |
|
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... |
ORPHA:429 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Malar flattening, Limited elbow extension, Short toe, Flat acetabular roof, Con... |
OMIM:271700 |
| Waardenburg Syndrome Type 3 |
|
Cutaneous finger syndactyly, Abnormality of the upper limb, White hair, Synostosis of carpal bone... |
ORPHA:896 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Thin vermilion border, Abnormality of the metaphysis, Brac... |
ORPHA:2370 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth |
OMIM:183300 |
| Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea, Clubbing |
OMIM:219400 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Renal hypoplasia, Abnormality of the ulna, Cleft palate, Microretrognathia, Hi... |
ORPHA:1307 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness, Syndactyly |
OMIM:300801 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Synophrys, Finger syndactyly, Thick eyebrow, Clinodactyly of the 5th fi... |
ORPHA:3268 |
| Weyers Acrofacial Dysostosis |
|
Postaxial foot polydactyly, Short palm, Postaxial hand polydactyly, Clinodactyly of the 5th finge... |
OMIM:193530 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... |
OMIM:112910 |
| Heart-Hand Syndrome Type 2 |
|
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... |
ORPHA:1350 |
| Trichodental Dysplasia |
|
Hypodontia, Odontodysplasia, Conical tooth |
OMIM:601453 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... |
OMIM:609616 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... |
ORPHA:1028 |
| Eng-Strom Syndrome |
|
Brachydactyly, Scoliosis, Camptodactyly of finger |
ORPHA:1937 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... |
OMIM:176240 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... |
OMIM:246570 |
| Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... |
OMIM:617927 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
| Jawad Syndrome |
|
Hallux valgus, 4-5 toe syndactyly, Short middle phalanx of the 5th finger, Single interphalangeal... |
OMIM:251255 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... |
OMIM:113000 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovarus, Fibular hypo... |
OMIM:201170 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... |
ORPHA:370010 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
OMIM:261560 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... |
OMIM:610921 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Cleft palate, Pierre-Robin sequence, Microretrognathia, Short long bone, Tooth age... |
OMIM:618363 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Highly arched eyebrow, Micrognathia, High palate, Postaxial polydactyly, Preaxial polydactyly, Mi... |
OMIM:618142 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... |
OMIM:218530 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse eyelashes, Sparse and thin eyebrow, Joint contracture of the hand, Split hand, Syndactyly,... |
OMIM:225280 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Cleft palate, Diastema, Microdontia, Talon cusp, Short metatarsal, Hitchhiker ... |
OMIM:605282 |
| Mental Retardation, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Micrognathia, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,... |
ORPHA:1193 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... |
ORPHA:1113 |
| Nager Syndrome |
|
Abnormal palate morphology, Micrognathia, Cleft palate, Triphalangeal thumb, Respiratory insuffic... |
ORPHA:245 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation ... |
ORPHA:2831 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly |
OMIM:614257 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Talipes equinovarus, Hand clenching, Respiratory insufficiency due to muscle weakne... |
OMIM:618291 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Hypodontia, High, narrow palate, Short philtrum, Oligodactyly, Malar flattening, ... |
ORPHA:3258 |
| Braddock Syndrome |
|
Micrognathia, Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal hair patte... |
ORPHA:52047 |
| Metaphyseal Acroscyphodysplasia |
|
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... |
ORPHA:1240 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Thick eyebrow, Preaxial hand p... |
ORPHA:1278 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, High palate, Short philtrum, Talipes equinovarus, Drooling, Hyperactivity, Cr... |
ORPHA:3306 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Prominent interdigital folds, Short distal phalanx of toe, Mandibular prognathia, Short 1st metac... |
OMIM:601957 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Talipes equinovarus, Respiratory insufficiency due to muscle weakness, Joint contracture of the h... |
OMIM:611067 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, Short thumb, Shor... |
OMIM:614326 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... |
OMIM:611377 |
| Fatco Syndrome |
|
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... |
ORPHA:2492 |
| Achondroplasia |
|
Genu varum, Bowing of the legs, Rhizomelia, Malar flattening, Flared metaphysis, Limited elbow ex... |
OMIM:100800 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Mandibular prognathia, Enamel hypoplasia, High palate, Malar flattening |
OMIM:600991 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Renal dysplasia, Hypoplastic acetabulae... |
ORPHA:93323 |
| Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... |
ORPHA:93387 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Hall-Riggs Mental Retardation Syndrome |
|
Thick lower lip vermilion, Hypoplasia of the primary teeth, Metaphyseal dysplasia, Microdontia of... |
OMIM:234250 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Increased connective tissue, Enamel hypoplasia, Scarring alopecia of scalp |
OMIM:226670 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
| Odontochondrodysplasia 1 |
|
Genu varum, Death in infancy, Delayed eruption of teeth, Recurrent respiratory infections, Short ... |
OMIM:184260 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Supernumerary tooth, Delayed eruption of teeth, Syndactyly, Hy... |
OMIM:614188 |
| Localized Junctional Epidermolysis Bullosa |
|
Limb joint contracture, Scarring alopecia of scalp, Enamel hypoplasia, Atypical scarring of skin,... |
ORPHA:251393 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Hypogonadism, Syndactyly, Abnormality of the dentition, Brachydactyly |
OMIM:615982 |
| Acromicric Dysplasia |
|
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... |
ORPHA:969 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... |
OMIM:265120 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia |
OMIM:270200 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the urinary system, Cough, Abnormal peripheral action potential amplitude, Inabili... |
ORPHA:90117 |
| Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abnormal trabecular bone morp... |
ORPHA:75508 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... |
OMIM:610978 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Pseudopseudohypoparathyroidism |
|
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Shor... |
ORPHA:79445 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... |
ORPHA:968 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
| Anauxetic Dysplasia 2 |
|
Hypodontia, Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Macrog... |
OMIM:617396 |
| Metaphyseal Acroscyphodysplasia |
|
Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip... |
OMIM:250215 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... |
OMIM:166740 |
| Isolated Brachycephaly |
|
Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... |
OMIM:263540 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot |
DECIPHER:46 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Brachydactyly, Delayed ossification of carpal bones |
OMIM:618392 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Yellow-brown discoloration of the teeth, Abnormal dental enamel morp... |
ORPHA:1946 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
| Dental Anomalies And Short Stature |
|
Widely spaced teeth, Microdontia, Oligodontia, Mandibular prognathia, Amelogenesis imperfecta, Hy... |
OMIM:601216 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Sandal gap, Finger syn... |
OMIM:264475 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Cleft palate, Proximal radial head dislocation, Hand oligodactyly, High palate, Cle... |
OMIM:602418 |
| Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia |
OMIM:262020 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
| Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome |
|
Clubbing of fingers, Cutaneous finger syndactyly, Swan neck-like deformities of the fingers, Club... |
ORPHA:329252 |
| Acrootoocular Syndrome |
|
High, narrow palate, Micrognathia, Decreased palmar creases, Short finger, Supernumerary tooth, P... |
ORPHA:2980 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... |
OMIM:156530 |
| Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Renal agenesis, Stillbirth |
OMIM:274210 |
| Radial-Renal Syndrome |
|
Ectopic kidney, Unilateral renal agenesis |
OMIM:179280 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Agenesis of canine, Absent cupid's bow, Cleft soft palate, Abnor... |
ORPHA:2919 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Malar flattening, Dental malocclusion |
OMIM:616108 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle atrophy, Hand muscle weakness, Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta |
OMIM:615905 |
| Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:154400 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... |
ORPHA:2114 |
| Aurocephalosyndactyly |
|
4-5 toe syndactyly |
OMIM:109050 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Metatarsus adductus, Cleft palate, Flat capital femoral epiphysis, Micrognat... |
OMIM:601560 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Split foot, Split hand |
OMIM:183700 |
| Acromicric Dysplasia |
|
Thick lower lip vermilion, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtru... |
OMIM:102370 |
| Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Micrognathia, High palate, Hirsutism, Long eyelashes, Narrow palate, Increased ove... |
OMIM:613684 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the upper limb, Downturned corners of mouth, Clinodactyly of the 3rd toe, Thin upp... |
ORPHA:521308 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... |
OMIM:177170 |
| 20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Brachydactyly, Camptodactyly |
ORPHA:444051 |
| Filippi Syndrome |
|
Optic atrophy, Hypodontia, Dystonia, Hypertrichosis, Microdontia, Short philtrum, Thin vermilion ... |
OMIM:272440 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
| Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Hypergonadotropic hypogona... |
OMIM:609441 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... |
ORPHA:1952 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
| Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ... |
OMIM:618729 |
| Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Cleft palate, Triphalangeal thumb, High palate, Abnormality of the elbow, Abnormali... |
ORPHA:3098 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Horseshoe kidney, Carious teeth, Smooth philtrum, Dental malocclusion, Velopharyngea... |
ORPHA:363444 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Thick upper lip vermilion, Exaggerated cupid's bow, Downturned co... |
OMIM:301026 |
| Pili Torti |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:2889 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Hand muscle atrophy, Hypoplasia of the capital femoral epiphysis, Tongue fas... |
OMIM:600561 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis, Brac... |
ORPHA:1436 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Elevated circulating thyroid-s... |
OMIM:101800 |
| Hyperekplexia 4 |
|
High palate, Adducted thumb, Talipes equinovarus, Camptodactyly, Respiratory failure, Umbilical h... |
OMIM:618011 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Malar flattening, Unilateral cleft lip, Bra... |
ORPHA:1919 |
| Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Patchy distortion of vertebrae, Short distal phalanx of finger, Dental malocc... |
OMIM:155050 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Sillence Syndrome |
|
Broad metatarsal, Metatarsus adductus, Short middle phalanx of finger, Large tarsal bones, Chess-... |
ORPHA:3168 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis |
OMIM:150400 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Cone-shaped epiphysis, Mandibular prognathia, Malar flattening, Abnormality of finger, Abnormalit... |
ORPHA:2511 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition, Abnormal form of ... |
ORPHA:3238 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... |
OMIM:135750 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Orofaciodigital Syndrome Iii |
|
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Short sternum, Bifid tongue, Posta... |
OMIM:258850 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... |
OMIM:183849 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Limited elbow flexion, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced... |
ORPHA:266 |
| Ameloonychohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... |
OMIM:104570 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Broad palm, Exaggerated median tongue furrow, Tapered finger, Maxillar... |
OMIM:300602 |
| Pallister-Hall Syndrome |
|
Cleft palate, Renal dysplasia, Neonatal death, Microglossia, Decreased response to growth hormone... |
OMIM:146510 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft palate, Kyphoscolio... |
OMIM:616331 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... |
ORPHA:166011 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Talipes equinovarus, Finger symphalangism, Carpal synostosis, Brachydactyly, H... |
OMIM:610017 |
| Microcephaly-Micromelia Syndrome |
|
Abnormality of the hand, Micrognathia, Cleft palate, Talipes equinovarus, Absent radius, Narrow m... |
OMIM:251230 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal ilium morphology, Cervical platyspondyly, Short middle phalanx of finger, Genu varum, Sh... |
ORPHA:93314 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Smooth philtrum, Proximal placement of thumb, Thin upper lip vermilion, Unilateral r... |
OMIM:616737 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
| 48,Xyyy Syndrome |
|
Thick lower lip vermilion, High palate, Long philtrum, Irregularly spaced teeth, Enamel hypoplasia |
ORPHA:99329 |
| Brachydactyly, Type E1 |
|
Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Multiple impacted teeth, Type... |
OMIM:113300 |
| Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... |
ORPHA:65759 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Furrowed tongue, Camptodactyly of finger, Premature ovarian insufficie... |
ORPHA:2928 |
| Lichtenstein Syndrome |
|
Carious teeth, Enamel hypoplasia, Downturned corners of mouth |
OMIM:246550 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Split hand, Ataxia, Respiratory failure |
OMIM:610127 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Renal agenesis, Unilateral renal agenesis |
OMIM:601076 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short middle phalanx of finger, Abnormality of epiphysis morphology, Delayed eruption... |
ORPHA:63442 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Short digit, Abnormal hand morphology, Short 5th metacarpal |
ORPHA:228190 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Highly arched eyebrow, Broad palm, Smooth philtrum, Hypodontia, Elevated circulating follicle sti... |
OMIM:618419 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
High anterior hairline, Sparse lateral eyebrow, Brachydactyly |
OMIM:618879 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal dappling, Cleft palate, Metaphyseal irregularity, Platyspondyly, Genu valgum, Coxa va... |
OMIM:184250 |
| Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, M... |
OMIM:251450 |
| Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Micrognathia, Shortening of all phalanges of fingers, High palate, Cone-shaped epiphysis, Long up... |
ORPHA:77258 |
| Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Death in infancy, Adducted thumb, Neonatal death, Death in childhood, Akinesia, Resp... |
OMIM:619334 |
| Short Stature-Obesity Syndrome |
|
Micrognathia, Limb undergrowth, Clinodactyly of the 5th finger, Micromelia, Brachydactyly |
OMIM:269870 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... |
OMIM:112450 |
| Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
| Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias |
OMIM:600057 |
| Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... |
ORPHA:1452 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Cleft palate, Abnormal metacarpal morphology, Abnormal lung lobation, Abnormality of epiphysis mo... |
ORPHA:2631 |
| Multiple Synostoses Syndrome 4 |
|
Tarsal synostosis, Brachydactyly, Overlapping toe |
OMIM:617898 |
| Bardet-Biedl Syndrome 19 |
|
Polydactyly |
OMIM:615996 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling |
OMIM:600121 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Talipes equinovarus, Short meta... |
ORPHA:93307 |
| Cranioectodermal Dysplasia |
|
Hypodontia, Microdontia, Rhizomelia, Abnormal dental enamel morphology, Abnormality of the metaph... |
ORPHA:1515 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Micrognathia, Talipe... |
OMIM:211920 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Supernumerary tooth |
ORPHA:627 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Narrow mouth, Coxa valga, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Nance-Horan Syndrome |
|
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors |
OMIM:302350 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Widely spaced teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sa... |
OMIM:617102 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormality of the dentition, Abnormal dental enamel morphology |
ORPHA:757 |
| Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft palate, Radial cl... |
ORPHA:93322 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Facial palsy, Loss of ability to walk, Hip dislocation, Micropenis, Ab... |
ORPHA:370968 |
| Intellectual Disability, Birk-Barel Type |
|
Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Short philtrum,... |
ORPHA:166108 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
| Terminal Osseous Dysplasia |
|
Cleft palate, Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening... |
OMIM:300244 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... |
ORPHA:2141 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Broad thumb, Finger syndactyly, Postaxial foot polydactyly,... |
ORPHA:380 |
| Chst3-Related Skeletal Dysplasia |
|
Irregular epiphyses, Small epiphyses, Abnormality of the elbow, Long philtrum, Rhizomelia, Cubitu... |
ORPHA:263463 |
| Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Broad palm, Exaggerated median tongue furrow, Tapered finger, Maxillar... |
OMIM:300431 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Death in infancy, Postaxial polydactyly, Proximal tubulopathy, Enamel hypoplasia, ... |
OMIM:614576 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Abnormal palate morphology, Malar flattening, Down-sloping shoulders, Retrognathia... |
ORPHA:1390 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Short finger, Tapered finger, Respiratory failure, Hyperextensibility ... |
OMIM:313420 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... |
OMIM:600081 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Interphalangeal joint contracture of finger, Premature loss of teeth, Supernumerar... |
ORPHA:69087 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Cleft palate, Genu valgum, Short foot, Short metacarpal, Narrow mouth, Short toe, B... |
OMIM:614078 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Small epiphyses, Irregular vertebral endplates, Avascular necrosis of the ca... |
OMIM:132400 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bilateral facial palsy, Proximal upper limb muscle hypertrophy, Bronchiolitis, Loss of ability to... |
ORPHA:254361 |
| Catifa Syndrome |
|
Gait disturbance, Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Clef... |
OMIM:618761 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic nipples, Hamartoma of tongue, Neonatal death, Short toe, Short long bone, Broad palm,... |
OMIM:269860 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Preaxial hand polydactyly, Pulmonary arterial hypertension, Abnormal hair morphology, Unilateral ... |
OMIM:608406 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| Pfeiffer Syndrome |
|
High palate, Short philtrum, Mandibular prognathia, Symphalangism affecting the phalanges of the ... |
ORPHA:710 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Enamel hypoplasia |
OMIM:251190 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Widely spaced teeth, Enamel hypoplasia, Conical tooth |
OMIM:613573 |
