Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Micrognathia |
OMIM:172880 |
Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
Hhhh Syndrome |
|
Hemiatrophy |
OMIM:306960 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Brachydactyly |
OMIM:618879 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Synophrys, Hypoplastic nasal septum, Holoprosencephaly, Shallow orbits,... |
OMIM:610828 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Pes planus, Short metacarpal, Ataxia, Coxa valga, Short metatarsal, Limb atax... |
OMIM:248800 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusio... |
OMIM:271650 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Ataxia, Brachydactyly |
OMIM:113400 |
Zechi-Ceide Syndrome |
|
Cerebellar vermis hypoplasia, Sandal gap, Short metatarsal, Long foot, Short distal phalanx of fi... |
OMIM:612916 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Otodental Syndrome |
|
Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Abnormal dental pulp morph... |
ORPHA:2791 |
Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
Brachydactyly, Type A4 |
|
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... |
ORPHA:93351 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... |
ORPHA:93307 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... |
OMIM:607078 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Conductive hearing impairme... |
ORPHA:90646 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Waddling gait, Epiphyseal dysplasia, Short metacarpal, Pes planus, Avascular necrosis of the capi... |
OMIM:132400 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor... |
ORPHA:750 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Cataract, Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxil... |
OMIM:136760 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Corneal dystrophy, Prominent nasa... |
ORPHA:2673 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo... |
OMIM:617102 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Abnormality iris morphology... |
ORPHA:1617 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Synophrys, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, Lobar holoprosencephaly, L... |
OMIM:614701 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus |
OMIM:615938 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormalit... |
OMIM:609324 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Microgn... |
OMIM:616531 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Camptodactyly of 2nd-5th fingers, High palate, Synostosi... |
ORPHA:1106 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Small hand, Truncal... |
OMIM:610185 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli... |
ORPHA:3104 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Synophrys, H... |
OMIM:609637 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Holoprosencephaly 9 |
|
Anophthalmia, Hypoplasia of the maxilla, Single naris, Short philtrum, Holoprosencephaly, Depress... |
OMIM:610829 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Zechi-Ceide Syndrome |
|
Cerebellar vermis hypoplasia, Sandal gap, Short metatarsal, Long foot, Short distal phalanx of fi... |
ORPHA:217017 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Cerebellar atrophy, Flexion contracture of toe, Camptodactyly of finger, Gait ataxia |
OMIM:619323 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Abnorm... |
ORPHA:85194 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Bone spicule pigmentation of the retina, Single transverse palmar c... |
OMIM:216550 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Brachydactyly, Single transverse palmar crease, Short first metatar... |
OMIM:601957 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral f... |
ORPHA:79113 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Blue irides, Cone-shap... |
OMIM:614613 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Hammertoe, Waddling gait |
OMIM:619090 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Distal sensory impairment, Hammertoe, Steppag... |
OMIM:618387 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
Smith-Mccort Dysplasia 2 |
|
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars... |
OMIM:615222 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Sensorineural hearing impairment, Cleft palate, Microcornea, Coloboma, Radioulnar syn... |
ORPHA:921 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... |
OMIM:156510 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Ulnar deviation of the hand, Impaired vibration sensation at ankles, Abnormal... |
OMIM:275900 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... |
OMIM:617719 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Vertebral wedging, Platyspondyly, Internal... |
OMIM:616583 |
Nescav Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Talipes equinovarus, Cerebellar vermis atrophy |
OMIM:614255 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hearing abnormality, Postaxial hand polydacty... |
ORPHA:2935 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... |
ORPHA:93320 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Talipes equinovarus |
OMIM:614209 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Distal Monosomy 7Q36 |
|
Micrognathia, Bulbous nose, Non-midline cleft lip, Optic atrophy, Cleft palate, Upslanted palpebr... |
ORPHA:1636 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Intestinal malrotation, Hypoplasia of the prema... |
ORPHA:2166 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Sensorineural hearing impairment, Optic atrophy, Upslanted p... |
OMIM:620086 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... |
OMIM:609223 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae |
ORPHA:50809 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Ataxia |
ORPHA:238446 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scolio... |
ORPHA:85174 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae |
OMIM:609655 |
Acromicric Dysplasia |
|
Short metacarpal, Small hand, Abnormal femur morphology, Abnormal epiphysis morphology, Short pal... |
ORPHA:969 |
Pseudoachondroplasia |
|
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi... |
OMIM:177170 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Hyporeflexia of upper limbs, Hyporeflexia... |
OMIM:615705 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Peroneal muscle atrophy, Ab... |
ORPHA:324442 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Areflexia of upper limbs, Dysmetria, Gait ataxia, Limb ataxia, Arefle... |
OMIM:616291 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,... |
OMIM:123150 |
Monosomy 18P |
|
Epicanthus, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Protruding ear, Downtur... |
ORPHA:1598 |
Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Posteriorly rotated ears, Intestinal malrotation, Highly arched eyebrow, Prominent no... |
OMIM:613684 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Posteriorly rotated ears, Single transverse palmar crease, Overlapping toe, Micro... |
OMIM:201170 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Microcornea, Persistent pupi... |
OMIM:257850 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Rhegmatogenous retinal detachment, Degenerative vitreoretinopathy, ... |
ORPHA:485 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Camptodactyly of finger, ... |
ORPHA:1466 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital f... |
ORPHA:93308 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Delayed epiphyseal ossific... |
OMIM:600969 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia |
ORPHA:1277 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Short fourth metatarsal, Brachydactyly, Ataxia, Single transverse palmar crea... |
OMIM:618143 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... |
OMIM:611638 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinodactyly of th... |
ORPHA:521308 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Crouzon Syndrome |
|
Ptosis, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Hypopigmented s... |
ORPHA:207 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Micrognathia, Ulnar bowing, Shortening of a... |
OMIM:619135 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Acromegaloid Facial Appearance Syndrome |
|
Large hands, Micrognathia, Short 5th metacarpal, Tapered finger |
OMIM:102150 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Anteverted nare... |
ORPHA:44 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Trisomy 18 |
|
Microcornea, Pointed helix, Holoprosencephaly, Iris coloboma, Low-set, posteriorly rotated ears, ... |
ORPHA:3380 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely... |
ORPHA:363417 |
Lowry-Maclean Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Downturned corners of mouth, Megalo... |
ORPHA:2409 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Abnormality o... |
ORPHA:1390 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... |
OMIM:108721 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly |
ORPHA:9 |
Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Arthralgia of the hip, Abnormality of radial epiphyses... |
ORPHA:166002 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:612463 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, B... |
ORPHA:1473 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Oculofaciocardiodental Syndrome |
|
Microcornea, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Tooth malposition, A... |
ORPHA:2712 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic nasal septum, Short philtrum, Conductive hearing impairment, Thick upper lip vermilio... |
OMIM:186500 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Triploidy |
|
Low-set, posteriorly rotated ears, Cataract, Intestinal malrotation, Micrognathia, Hydrocephalus,... |
ORPHA:3376 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... |
OMIM:600705 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Pde4D Haploinsufficiency Syndrome |
|
Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatarsal, Upper limb... |
ORPHA:439822 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Sensorineural hearing impairment,... |
OMIM:609616 |
Distal Deletion 10Q |
|
Pes planus, Scapular winging, Sandal gap, Single transverse palmar crease, Ataxia, Tapered finger... |
ORPHA:96148 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Epicanthus, Congenital hip dislocation, Anteverted nares, Prominence of ... |
ORPHA:2412 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Chorioretinal dysplasia, Chorioretinal lacunae, Deep philtrum, Protruding ... |
OMIM:152950 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Telecanthus, Depressed nasal bridge, Craniosyno... |
ORPHA:2117 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal |
ORPHA:2489 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Marinesco-Sjögren Syndrome |
|
Short palm, Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal fin... |
ORPHA:559 |
Holoprosencephaly |
|
Anophthalmia, Synophrys, Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosencephaly, C... |
ORPHA:2162 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Jacobsen Syndrome |
|
Micrognathia, Microcornea, Eyelid coloboma, Holoprosencephaly, Chorioretinal coloboma, Iris colob... |
OMIM:147791 |
Nail-Patella Syndrome |
|
Keratoconus, Ptosis, Cataract, Spina bifida, Cleft upper lip, Sensorineural hearing impairment, P... |
OMIM:161200 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Fusion of the cerebellar hemispheres, Agenesis of cerebella... |
ORPHA:59315 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Hearing impairment, ... |
OMIM:620157 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Astigmatism, Everted l... |
OMIM:614753 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Broad radial meta... |
ORPHA:99642 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormal m... |
ORPHA:1307 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Temtamy Syndrome |
|
Telecanthus, Convex nasal ridge, Micrognathia, Thick lower lip vermilion, Low-set ears, Chorioret... |
ORPHA:1777 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing im... |
ORPHA:90653 |
Ring Chromosome 14 Syndrome |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Almond-shaped palpebral fissure, Depressed ... |
OMIM:616606 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,... |
OMIM:167730 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ... |
OMIM:608940 |
Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow ... |
OMIM:620370 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Wide nose, Cataract, Corneal opacity, Telecanthus, Abnormality of cartilage o... |
ORPHA:2399 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Short palm, Waddling gait, Cerebellar vermis hypoplasia, Broad palm, Short foot, Tip-toe gait, Ga... |
OMIM:614563 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... |
OMIM:311895 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Waddling gait, Pes planus, Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar musc... |
OMIM:612350 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Pierpont Syndrome |
|
Wide nose, Telecanthus, Posteriorly rotated ears, Broad nasal tip, Long upper lip, Unilateral nar... |
OMIM:602342 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital ptery... |
OMIM:619339 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Highly arched eyebrow, Micrognathia, Congenital sensor... |
ORPHA:293967 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Abnormality of the malleus, Triphalangeal th... |
ORPHA:949 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Proximal/mid... |
OMIM:184460 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Dandy-Walker malformation |
ORPHA:2611 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Abnormal pelvic girdle bone morp... |
OMIM:157900 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Warburg Micro Syndrome 1 |
|
Anteverted nares, Micrognathia, Optic atrophy, Wide nasal bridge, Developmental cataract, Microco... |
OMIM:600118 |
Microphthalmia, Syndromic 13 |
|
Anteverted ears, Widely-spaced incisors, Microcornea, Chorioretinal coloboma, Microphthalmia, Iri... |
OMIM:300915 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Micromelia, Coxa vara |
ORPHA:168555 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Genu ... |
ORPHA:915 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul... |
OMIM:184260 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Pain insensitivity, Short toe, Short phalanx of finger... |
OMIM:600430 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Tented upper lip vermilion, Highly arched eyebrow, Broad nasal tip, Microgna... |
ORPHA:166108 |
Scholte Syndrome |
|
Cerebellar atrophy, Acromicria, Small hand, Patellar hypoplasia, Short foot |
OMIM:300977 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Short toe, Broad foot, Brachydactyly |
ORPHA:3085 |
Branchio-Oculo-Facial Syndrome |
|
Deep philtrum, Orofacial cleft, Microcornea, Coloboma, Premature graying of hair, High palate, Co... |
ORPHA:1297 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Microcor... |
ORPHA:141099 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Facial palsy, Curly eyelashes, Prominent nose, ... |
OMIM:301022 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Thick upper lip vermilion, Bifid uvula... |
OMIM:154780 |
Pierpont Syndrome |
|
Thin upper lip vermilion, Telecanthus, Posteriorly rotated ears, Wide nasal ridge, Uplifted earlo... |
ORPHA:487825 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc... |
OMIM:108720 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
Paternal Uniparental Disomy Of Chromosome X |
|
Cubitus valgus, Short metacarpal |
ORPHA:261524 |
Lambotte Syndrome |
|
Telecanthus, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Ocular anterior ... |
OMIM:245552 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia,... |
ORPHA:163649 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Cataract, Anteverted nares, Micrognathia, Microdontia, Knee flexion contracture, Upsla... |
OMIM:619694 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... |
ORPHA:85172 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Limited wrist extension, Blepharoph... |
OMIM:108145 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion ... |
ORPHA:496689 |
Microtriplication 11Q24.1 |
|
Joint dislocation, Keratoconus, Wide nose, Attached earlobe, Posteriorly rotated ears, Smooth phi... |
ORPHA:289522 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... |
ORPHA:166011 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Aicardi Syndrome |
|
Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Prominence of the ... |
ORPHA:50 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, B... |
OMIM:612530 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Coloboma, Retina... |
ORPHA:324416 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... |
OMIM:604864 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia, Orbital cyst |
OMIM:251505 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Epicanthus, Cataract, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridg... |
OMIM:618571 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, H... |
OMIM:120433 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow |
ORPHA:3268 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Chronic otitis me... |
OMIM:614188 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Hydrocephalus, Neonatal epiphyseal stippling, Short metatarsal, ... |
OMIM:101800 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Cerebellar hypoplasia, Talipes equinovarus, Campto... |
OMIM:616354 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Abnorma... |
ORPHA:193 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Posteriorly rotated ears, Dental ... |
ORPHA:2789 |
Alg6-Cdg |
|
Ataxia, Cerebellar hypoplasia, Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys... |
ORPHA:2631 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Cerebellar hypoplasia, Short distal ... |
ORPHA:86822 |
Agnathia-Otocephaly Complex |
|
Wide nose, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Low-set ears, Narrow mouth, C... |
OMIM:202650 |
Marshall-Smith Syndrome |
|
Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High pala... |
OMIM:602535 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... |
OMIM:617974 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Split foot, Malar flattening |
OMIM:183700 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Short finger |
OMIM:300049 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Epicanthus, Depressed nasal bridge, ... |
ORPHA:96264 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... |
ORPHA:3019 |
Warburg-Cinotti Syndrome |
|
Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha... |
OMIM:618175 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Cyclopia, Abnormal cran... |
ORPHA:990 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Wide nasal bridge, Gingival overgrowth, Downturned... |
OMIM:618729 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Temtamy Syndrome |
|
Dental crowding, Convex nasal ridge, Highly arched eyebrow, Lens luxation, Ectopia lentis, Lop ea... |
OMIM:218340 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Anteverted nares, Abnormal retinal va... |
ORPHA:791 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Developmental cataract, Microcornea, Screwdrive... |
OMIM:302350 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, High palate, Narrow mouth, Microp... |
ORPHA:2528 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Sensorineural hearing impairme... |
OMIM:166750 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Ptosis, Epicanthus, Exaggerated cupid's bow, Prominent nasal bridge, Hearing impairment, Microgna... |
OMIM:618659 |
20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
ORPHA:444051 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal,... |
OMIM:614813 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Met... |
OMIM:123450 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Choanal stenosis, High palate, ... |
ORPHA:798 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology |
ORPHA:163665 |
Baraitser-Winter Syndrome 2 |
|
Ptosis, Telecanthus, Thin upper lip vermilion, Abnormal pinna morphology, Highly arched eyebrow, ... |
OMIM:614583 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Micrognathia, Humeroradial synostos... |
OMIM:251230 |
3Mc Syndrome 2 |
|
Ptosis, Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Limited elbow mov... |
OMIM:265050 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal ... |
OMIM:614424 |
Steinfeld Syndrome |
|
Abnormal pinna morphology, Hearing impairment, Bifid uvula, Retinal coloboma, Aplasia of the nose... |
OMIM:184705 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... |
ORPHA:56304 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Micrognathia, Anteverted ears, Bulbous nose, Deep philtrum,... |
OMIM:613884 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln... |
ORPHA:2741 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... |
ORPHA:429 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Symphalangism, Distal |
|
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... |
OMIM:185700 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Micrognathia, Metaphyseal chondrodysplasia, Chiari t... |
ORPHA:166035 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Epicanthus, Posteriorly rotated ears, Cleft palate, Thin vermilion border, Long eyelashes, Low-se... |
OMIM:615502 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Thick upper lip vermilion, ... |
ORPHA:560 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... |
OMIM:156530 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Abnormal metacarpal morphology |
OMIM:269630 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Clinodactyly, Cerebellar... |
OMIM:618087 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Pes planus, Sandal gap, Small hand, Gait ataxia, Short foot, Pes cavus, Cerebellar vermis atrophy... |
OMIM:300354 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Encephalocele, Epicanthus, Mandibular prognathia, Micrognathia... |
ORPHA:1908 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent n... |
OMIM:614886 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Alobar holoprosencephaly, High palate, Short philtrum, Low-set ears, Macrotia, Downsl... |
OMIM:615433 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Abnormality of t... |
OMIM:300244 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Retinal detachment, Cataract, Prominent nasal bridge, Prominent nose, Abno... |
ORPHA:627 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth |
ORPHA:1423 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal, Small hand, S... |
OMIM:170390 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Protruding ear, Coloboma, Radioulnar synostosis, Macrotia, Hearing impairment |
OMIM:302905 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Synophrys, Op... |
OMIM:618737 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... |
ORPHA:3121 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou... |
OMIM:236500 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, De... |
OMIM:229200 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
Emery-Nelson Syndrome |
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Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Bardet-Biedl Syndrome 17 |
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Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia... |
OMIM:615994 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hear... |
OMIM:610023 |
16P13.11 Microdeletion Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyl... |
ORPHA:261236 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
X-Linked Intellectual Disability, Hedera Type |
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Cerebellar atrophy, Pes planus, Inability to walk, Calcaneovalgus deformity, Unsteady gait, Dysme... |
ORPHA:93952 |
Microcephaly, Short Stature, And Limb Abnormalities |
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11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Frontorhiny |
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Low-set, posteriorly rotated ears, Encephalocele, Epicanthus, Cataract, Camptodactyly of finger, ... |
ORPHA:391474 |
Cerebrooculofacioskeletal Syndrome 3 |
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Low-set ears, Microphthalmia, Cleft palate, Micrognathia |
OMIM:616570 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Optic disc pallor, Cataract, Macular atrophy, Prominent nose, Micrognathia, Optic atrophy, Microc... |
OMIM:616171 |
Sillence Syndrome |
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Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Gordon Syndrome |
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Finger syndactyly, Camptodactyly of finger, Scoliosis, Clinodactyly of the 5th finger, Hearing im... |
ORPHA:376 |
Melanocytic Nevus Syndrome, Congenital |
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Congenital giant melanocytic nevus, Prominence of the premaxilla, Anteverted nares, Narrow nasal ... |
OMIM:137550 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Smith-Mccort Dysplasia 1 |
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Waddling gait, Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, H... |
OMIM:607326 |
Trisomy 13 |
|
Cataract, Anophthalmia, Median cleft lip, Abnormality of the dentition, Abnormal retinal vascular... |
ORPHA:3378 |
Crouzon Syndrome |
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Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Keratitis, Hypoplasia of the m... |
OMIM:123500 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Hydrocephalus, Chiari malformation, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the cer... |
ORPHA:93262 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
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Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
Sandestig-Stefanova Syndrome |
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Prominent metopic ridge, Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Wide nasa... |
OMIM:618804 |
Pseudohypoparathyroidism, Type Ia |
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Short metacarpal, Short toe, Short metatarsal, Short finger, Brachydactyly |
OMIM:103580 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Small earlo... |
ORPHA:364577 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
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Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Weyers Acrofacial Dysostosis |
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Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Baraitser-Winter Syndrome 1 |
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Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Cleft upper lip, S... |
OMIM:243310 |
Symphalangism, Proximal, 1A |
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Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Conductive hearing impairmen... |
OMIM:185800 |
Joubert Syndrome 23 |
|
Polydactyly, Cerebellar dysplasia |
OMIM:616490 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
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Aplasia/Hypoplasia of the lens, Cataract, Genu valgum, Anal atresia, Abnormal palate morphology |
ORPHA:1381 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Unsteady gait, Small hand, Ankle clonus, Short foot, Cerebellar vermis atrophy |
OMIM:617435 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Coloboma, H... |
OMIM:601357 |
Coffin-Lowry Syndrome |
|
Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Abnormality of r... |
ORPHA:192 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ... |
OMIM:616651 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Gapo Syndrome |
|
Micrognathia, High, narrow palate, Protruding ear, Eruption failure, Megalocornea, Keratoconus, A... |
OMIM:230740 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Hypoplasia of... |
OMIM:264180 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Post... |
ORPHA:474 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Eyelid coloboma, Hypoplasia of the semicircular canal, Holopro... |
ORPHA:138 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Trichorhinophalangeal Syndrome, Type I |
|
Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the ha... |
OMIM:190350 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Anteverted nare... |
ORPHA:2510 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cleft hard palate, ... |
ORPHA:250999 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Pr... |
OMIM:157170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Coloboma, Retinal dysplasia, Megalocornea, Retinal atrophy... |
OMIM:236670 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Elbow dislo... |
ORPHA:3236 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Cubitus valgus, Hydrocephalus, Short 4th metacarpal |
ORPHA:2183 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Monosomy 13Q14 |
|
Epicanthus, Cataract, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Protruding ear, Ho... |
ORPHA:1587 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Abnormal form of th... |
ORPHA:1788 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of... |
ORPHA:444002 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Herniation of intervertebral nuc... |
OMIM:601216 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigme... |
OMIM:204000 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Conductive h... |
ORPHA:861 |
Chst3-Related Skeletal Dysplasia |
|
Waddling gait, Short metacarpal, Rhizomelia, Abnormality of the elbow, Genu valgum, Irregular epi... |
ORPHA:263463 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Bifid ... |
OMIM:200990 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Branchiootic Syndrome |
|
Branchial fistula, Abnormal nasolacrimal system morphology, Facial palsy, Lip pit, Micrognathia, ... |
ORPHA:52429 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Underdeveloped nasal alae, Micrognat... |
OMIM:614230 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Gait dis... |
ORPHA:2900 |
Distal Deletion 13Q |
|
Encephalocele, Optic atrophy, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia affecting the ey... |
ORPHA:1590 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... |
OMIM:619981 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finge... |
ORPHA:306542 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Micrognathia, Holoprosencephaly, Advanced eruption of teeth, Iris coloboma, Low-set... |
ORPHA:818 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
Neuroocular Syndrome |
|
Genu recurvatum, Synophrys, Lens coloboma, Microcornea, Downturned corners of mouth, Widely space... |
OMIM:619539 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle... |
OMIM:618853 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Short 5th metacarpal, Abnormality of the hand, Brachydactyly |
ORPHA:1264 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Cataract, Block vertebrae, Anteverted nares, Sp... |
OMIM:304050 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Poster... |
ORPHA:899 |
Roifman-Chitayat Syndrome |
|
Cone-shaped epiphysis, Umbilical hernia, Short metacarpal, Short metatarsal |
OMIM:613328 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co... |
OMIM:600593 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Cerebellar vermis hypoplasia, Broad hallux, Clinodactyly of the 2nd toe, Coxa v... |
OMIM:620073 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Palmoplantar... |
ORPHA:2251 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Abnormality of the dentition, Corneal erosion, Sensorineur... |
ORPHA:90354 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Lumbar hyperlordosis, Posteriorly rotated ears, Rhizomelia, Short neck, Me... |
OMIM:612813 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity, Median cleft palate |
ORPHA:2432 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... |
OMIM:620107 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq... |
OMIM:271630 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Protruding ear, Low-s... |
ORPHA:85284 |
Osteoglophonic Dysplasia |
|
Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi... |
OMIM:166250 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... |
OMIM:164900 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the long bones,... |
ORPHA:85167 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi... |
ORPHA:166272 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Abnormal chorioretinal morphology, Chorioretinal degeneration, Dilatated intern... |
ORPHA:1435 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Filippi Syndrome |
|
Cerebellar atrophy, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Fi... |
OMIM:272440 |
Norrie Disease |
|
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas... |
ORPHA:649 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Microcornea, Limbal dermoid, Iris coloboma, Encephalocele, Depressed nasal... |
ORPHA:1791 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Single transverse palmar crease, Monkey wrenc... |
OMIM:615777 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Sclerocornea, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopro... |
ORPHA:77298 |
8Q21.11 Microdeletion Syndrome |
|
Sclerocornea, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Iris hypopi... |
ORPHA:284160 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Anonychia-Ectrodactyly |
|
Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract, Abnormal optic disc mo... |
ORPHA:65 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia... |
OMIM:604841 |
Stromme Syndrome |
|
Cataract, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Intestinal malrotation... |
OMIM:243605 |
Carpenter Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Microcornea, High palate, Conductive hearing impairment,... |
OMIM:201000 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Corneal dystrophy, Dental crowding, Absent frontal sinuses, En... |
OMIM:253250 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears |
OMIM:618295 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... |
OMIM:184252 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, High palate, Ocular anterior segment dysgenesis, Dep... |
OMIM:612582 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperpigmentation of the skin, Selective tooth agenesis, Conical tooth, Absent ... |
OMIM:106260 |
Warburg Micro Syndrome 3 |
|
Cataract, Micrognathia, Optic atrophy, Narrow palate, Developmental cataract, Ankle clonus, Micro... |
OMIM:614222 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Waddling gait, R... |
OMIM:300106 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormal anterior ... |
ORPHA:782 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Prominent nasal bridge, Sensorineural hearing impairment, Downturned corners of mouth... |
OMIM:618652 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:612462 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna morphol... |
ORPHA:178303 |
Pitt-Hopkins Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p... |
OMIM:610954 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Wide nasal bridge, Protruding ear, Narrow pa... |
OMIM:618302 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... |
ORPHA:280200 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Depressed nasal bridge, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Low-... |
OMIM:612379 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly |
ORPHA:1795 |
Stickler Syndrome, Type I |
|
Arthropathy, Retinal detachment, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia... |
OMIM:108300 |
Cat-Eye Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Anal atres... |
ORPHA:195 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph... |
ORPHA:3224 |
Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Enlarged epiphyses, Epiphyseal dysplasia, Sensorineural hearing impairment, Platyspondyly, Malar ... |
OMIM:184840 |
Otospondylomegaepiphyseal Dysplasia |
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Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Micrognathia... |
ORPHA:1427 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
Split-Foot Malformation With Mesoaxial Polydactyly |
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1-2 toe syndactyly, Mesoaxial hand polydactyly, Sensorineural hearing impairment, Split hand, 4-5... |
OMIM:616890 |
Boomerang Dysplasia |
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Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
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Waddling gait, Short thumb, Broad hallux, Brachydactyly |
OMIM:165800 |
Mohr Syndrome |
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Short palm, Syndactyly, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Posta... |
OMIM:252100 |
Microphthalmia, Isolated, With Coloboma 9 |
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Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Low-se... |
OMIM:615145 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Apert Syndrome |
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Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypopl... |
ORPHA:87 |
Charlie M Syndrome |
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Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
Greenberg Dysplasia |
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Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Kapur-Toriello Syndrome |
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Posteriorly rotated ears, Intestinal malrotation, Bulbous nose, Orofacial cleft, Retinal coloboma... |
ORPHA:2328 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ... |
ORPHA:93346 |
Dysspondyloenchondromatosis |
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Kyphoscoliosis, Abnormal fibula morphology, Genu valgum, Vertebral segmentation defect, Platyspon... |
ORPHA:85198 |
Banki Syndrome |
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Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Rere-Related Neurodevelopmental Syndrome |
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Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Anteverted nares, Choanal atresia, Microgn... |
ORPHA:494344 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Brachydactyly, Acromesomelia |
ORPHA:40 |
Laron Syndrome |
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Limb undergrowth, Short long bone |
OMIM:262500 |
Keipert Syndrome |
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Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac... |
OMIM:301026 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph... |
ORPHA:93316 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
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Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
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Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Abnormal helix morphology, ... |
ORPHA:1259 |
Srd5A3-Cdg |
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Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Oligodontia, Spotty hyperpigmentation, ... |
ORPHA:324737 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Cataract, Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairment, Mi... |
OMIM:617306 |
Pfeiffer Syndrome |
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Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Craniofacial-Deafness-Hand Syndrome |
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Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Delayed eruption of teeth, Sensorineural hearing impairment, Cone-shaped epiphysis, Platyspondyly... |
ORPHA:71267 |
Chromosome 22Q11.2 Duplication Syndrome |
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Epicanthus, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasa... |
OMIM:608363 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
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Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... |
ORPHA:973 |
Van Maldergem Syndrome 1 |
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Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio... |
OMIM:601390 |
Perrault Syndrome 1 |
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Cerebellar atrophy, Ataxia, Gait ataxia, Talipes equinovarus, Pes cavus |
OMIM:233400 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Cerebellar vermis hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of... |
OMIM:615630 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Atkin-Flaitz Syndrome |
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Anteverted nares, Abnormality of the dentition, Broad nasal tip, Everted lower lip vermilion, Thi... |
ORPHA:1193 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Short metacarpal, Short fourth metatarsal, Overlapping toe, Femoral bowing, Narrow pelvis bone, S... |
OMIM:616723 |
Adams-Oliver Syndrome 2 |
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Depressed nasal bridge, Micrognathia, Bulbous nose, Hydrocephalus, Optic atrophy, Protruding ear,... |
OMIM:614219 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Abnormal verteb... |
ORPHA:166024 |
Mosaic Variegated Aneuploidy Syndrome |
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Intestinal polyposis, Low-set, posteriorly rotated ears, Wide nose, Cataract, Corneal opacity, Ep... |
ORPHA:1052 |
Split-Hand/Foot Malformation 3 |
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Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Tented upper lip vermilion, ... |
ORPHA:438216 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Hydranencephaly, Camptodactyly of finger, Micrognathia, Holoprosencephaly, Low-set ears, Blepharo... |
ORPHA:2570 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
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Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
2Q31.1 Microdeletion Syndrome |
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Prominent metopic ridge, Epicanthus, Camptodactyly of finger, Micrognathia, Bulbous nose, Optic d... |
ORPHA:251014 |
Monosomy 5P |
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Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Short neck, Small hand, ... |
ORPHA:281 |
Focal Dermal Hypoplasia |
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Linear hyperpigmentation, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot... |
OMIM:305600 |
Eiken Syndrome |
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Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Keipert Syndrome |
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Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop... |
ORPHA:2662 |
Familial Median Cleft Of The Upper And Lower Lips |
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Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Developmental And Epileptic Encephalopathy 66 |
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Thin upper lip vermilion, Synophrys, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ... |
OMIM:618067 |
Waardenburg Syndrome, Type 3 |
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Scapular winging, Partial albinism, Camptodactyly of finger, Blue irides, Hypopigmented skin patc... |
OMIM:148820 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho... |
OMIM:617405 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
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2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Mucopolysaccharidosis Type 2, Severe Form |
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Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Papilledema, Abnormal d... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Wide nose, Corneal... |
ORPHA:580 |
Microphthalmia, Lenz Type |
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Delayed eruption of teeth, Low-set, posteriorly rotated ears, Cataract, Abnormal dental morpholog... |
ORPHA:568 |
Ring Chromosome 21 Syndrome |
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Syndactyly, Small hand, Narrow palm, Gait disturbance, Holoprosencephaly, Multiple cafe-au-lait s... |
ORPHA:1445 |
Microphthalmia, Isolated, With Coloboma 6 |
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Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Acrocapitofemoral Dysplasia |
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Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... |
ORPHA:63446 |
Nevus Comedonicus Syndrome |
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Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Kapur-Toriello Syndrome |
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Cataract, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Bulbous nose, Cleft p... |
OMIM:244300 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... |
OMIM:608728 |
Van Maldergem Syndrome 2 |
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Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio... |
OMIM:615546 |
Cleidocranial Dysplasia 2 |
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Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
Phenobarbital Embryopathy |
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Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
Sclerosteosis |
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Craniofacial hyperostosis, Finger syndactyly, Sensorineural hearing impairment, 2-3 finger syndac... |
ORPHA:3152 |
Dihydropyrimidinase Deficiency |
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Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Al-Raqad Syndrome |
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Sandal gap, Inability to walk, Gait ataxia, Hypopigmentation of the skin, Brachydactyly |
OMIM:616459 |
Skraban-Deardorff Syndrome |
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Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's bow, Cleft palate, Hyperpl... |
OMIM:617616 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Papilledema, Abnormal d... |
ORPHA:217093 |
Mesomelia-Synostoses Syndrome |
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Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h... |
ORPHA:2496 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Lacrimoauriculodentodigital Syndrome |
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Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... |
ORPHA:2363 |
Optic Atrophy-Intellectual Disability Syndrome |
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Keratoconus, Epicanthus, Anteverted nares, Optic disc hypoplasia, Optic nerve hypoplasia, Promine... |
ORPHA:401777 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
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Glue ear, Short foot, Clinodactyly of the 5th finger, Low-set ears, Recurrent otitis media, Umbil... |
OMIM:619758 |
Refsum Disease, Classic |
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Short fourth metatarsal, Pes cavus, Somatic sensory dysfunction, Ataxia |
OMIM:266500 |
20P12.3 Microdeletion Syndrome |
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Epicanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, M... |
ORPHA:261295 |
Halperin-Birk Syndrome |
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Micrognathia, Optic atrophy, Hip dislocation, Developmental cataract, Semilobar holoprosencephaly... |
OMIM:618651 |
Bosma Arhinia Microphthalmia Syndrome |
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Cataract, Abnormal pinna morphology, Choanal atresia, Absent tragus, Paranasal sinus hypoplasia, ... |
OMIM:603457 |
Elsahy-Waters Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,... |
OMIM:211380 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
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Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Large tarsal bones, Microgn... |
OMIM:215150 |
Trichothiodystrophy 9, Nonphotosensitive |
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Ataxia, Brachydactyly |
OMIM:619692 |
Acrocephalopolydactyly |
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Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly |
ORPHA:221054 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
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Prominent fingertip pads, Cholesteatoma |
OMIM:614113 |
Autosomal Recessive Stickler Syndrome |
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Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Genu valgum, Irregular vert... |
ORPHA:250984 |
Osteogenesis Imperfecta, Type V |
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Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle... |
OMIM:610967 |
Epiphyseal Dysplasia, Baumann Type |
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Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
Progressive Pseudorheumatoid Dysplasia |
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Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl... |
OMIM:208230 |
Mucopolysaccharidosis, Type Iva |
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Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Acropectorovertebral Dysplasia |
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Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
Bardet-Biedl Syndrome 4 |
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Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Brachydactylous Dwarfism, Mseleni Type |
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Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Abnormalit... |
ORPHA:2619 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
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Iris hypopigmentation, Micrognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypo... |
ORPHA:2513 |
Hall-Riggs Syndrome |
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Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Hypopla... |
OMIM:234250 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Finger syndactyly, Toe syndactyly, Hypermelanotic macule, Hydrocephalus, Chiari malformation, Han... |
ORPHA:60040 |
Acitretin/Etretinate Embryopathy |
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Epicanthus, Aplasia/Hypoplasia of the maxilla, Anteverted nares, Abnormal retinal morphology, Mic... |
ORPHA:40366 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Pes planus, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metacarpal |
OMIM:619638 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Pigmentary retinopathy, Bilateral senso... |
OMIM:264470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Coloboma, Microphthalmia |
OMIM:613153 |
Donnai-Barrow Syndrome |
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Retinal detachment, Depressed nasal bridge, Retinal dystrophy, Intestinal malrotation, Posteriorl... |
ORPHA:2143 |
Rubinstein-Taybi Syndrome 1 |
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Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Co... |
OMIM:180849 |
Nager Syndrome |
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Low-set, posteriorly rotated ears, Ptosis, Sparse lower eyelashes, Micrognathia, Abnormal nasal m... |
ORPHA:245 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Protruding ear, Talipes equin... |
ORPHA:85279 |
Charcot-Marie-Tooth Disease, Type 4B3 |
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Pes planus, Syndactyly, Distal sensory impairment, Gait disturbance, Loss of ambulation, Distal l... |
OMIM:615284 |
Thrombocytopenia-Absent Radius Syndrome |
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Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal... |
OMIM:274000 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
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Freckling, Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Epicanthus, Cataract, Palpebral edema, Micrognathia, Brushfield spots, Optic nerve dysplasia, Cle... |
OMIM:214110 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
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Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
Pseudohypoparathyroidism, Type Ib |
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Short metacarpal, Brachydactyly |
OMIM:603233 |
Frontofacionasal Dysplasia |
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Ankyloblepharon, Orofacial cleft, Microcornea, Eyelid coloboma, Bifid uvula, Iris coloboma, Hypop... |
OMIM:229400 |
Axenfeld-Rieger Syndrome, Type 2 |
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Mandibular prognathia, Anal stenosis, Telecanthus, Hypoplasia of the maxilla, Hydrocephalus, Wide... |
OMIM:601499 |
Oculodentodigital Dysplasia |
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Selective tooth agenesis, Uveitis, Microcornea, High palate, Joint contracture of the 5th finger,... |
OMIM:164200 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
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Cerebellar atrophy, Cerebellar hypoplasia, Broad distal phalanx of finger, Broad thumb, Brachydac... |
OMIM:617763 |
3Q29 Microduplication Syndrome |
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Cataract, Craniosynostosis, Sclerocornea, Abnormality of the dentition, Deep philtrum, Wide nasal... |
ORPHA:251038 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... |
ORPHA:397973 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Posteriorly rotated e... |
OMIM:600325 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median... |
OMIM:608670 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt... |
ORPHA:370959 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m... |
OMIM:602849 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Talipes equinovarus |
OMIM:618917 |
Trisomy 8P |
|
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hydrocephalus, Recurrent uppe... |
ORPHA:264450 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal foot morphology, Brachydactyly |
ORPHA:168796 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Genu recurvatum, Uplifted earlobe, Narrow palate, Short upper lip, Macrodo... |
ORPHA:364028 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Pallister-Hall Syndrome |
|
Natal tooth, Depressed nasal bridge, Choanal atresia, Anteverted nares, Posteriorly rotated ears,... |
OMIM:146510 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Cupped ear, Joint contracture of the 4th fing... |
OMIM:618914 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Mixed hearing impairment, Long eyebrows, Cleft upper lip, Op... |
OMIM:201180 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Bor Syndrome |
|
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... |
ORPHA:107 |
Gapo Syndrome |
|
Delayed eruption of teeth, Keratoconus, Mandibular prognathia, Anteverted nares, Depressed nasal ... |
ORPHA:2067 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cataract, Prominent nasal bridge, Prominent nose, Micrognathia, Cariou... |
OMIM:214150 |
Dubowitz Syndrome |
|
Micrognathia, Protruding ear, Hypoplasia of the iris, High palate, Otitis media, Megalocornea, Ir... |
OMIM:223370 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:1647 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Telecanthus, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sens... |
OMIM:109120 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia |
OMIM:273680 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Cataract, Abnormally large globe, Sensorineural hearing impairment, Hydrocephalus, Coloboma, Micr... |
OMIM:615249 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Low hanging columella, Bilateral microphthalmos, Unilateral microphthalmos, Co... |
OMIM:619318 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Median cleft lip, Cleft palate, Holoprosencephaly, Low-set ears, Cyclopia |
ORPHA:2165 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... |
OMIM:147250 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Coxoauricular Syndrome |
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Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Depressed nasal bridge, Prominent crus ... |
ORPHA:794 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Telecanthus, Posteriorly rotated ears, Dental crowding, Abnormality of the midd... |
OMIM:130720 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Micrognathia, Hydrocephalus, Bi... |
ORPHA:2839 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
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Micrognathia, Prominent nose, High palate, Chorioretinal coloboma, Macrotia, Hyperplasia of the m... |
OMIM:620194 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Cataract, Abnormal chorioretinal morphology, Ap... |
ORPHA:564 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Postaxial hand polydactyly, Superior cerebellar dysplasia, Dandy-Walker malfo... |
OMIM:617622 |
Refsum Disease |
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Abnormality of retinal pigmentation, Short metacarpal, Ataxia, Abnormal foot morphology, Hammerto... |
ORPHA:773 |
Laurence-Moon Syndrome |
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Finger syndactyly, Ataxia, Bilateral single transverse palmar creases, Hand polydactyly, Brachyda... |
ORPHA:2377 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal tip, Thick lower... |
OMIM:300602 |
Microphthalmia With Limb Anomalies |
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Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Coffin-Siris Syndrome 2 |
|
Sandal gap, Cerebellar hypoplasia, Short distal phalanx of finger, Dandy-Walker malformation, Bra... |
OMIM:614607 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
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Short fourth metatarsal, Short fifth metatarsal, 2-3 toe syndactyly, Increased carrying angle, Cl... |
OMIM:261990 |
Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Depressed nasal bridge, Genu recurvatum, Micrognathia, Cupped ear, Wide... |
OMIM:249310 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Dental crowding, Underdevel... |
OMIM:619941 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Choanal atresia, Facial palsy, Absent eyelashes, Carious teeth, Bulbous nose, Ano... |
ORPHA:2316 |
Martsolf Syndrome 1 |
|
Epicanthus, Cataract, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Microgna... |
OMIM:212720 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap... |
ORPHA:177 |
15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Broad eyebrow, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Heari... |
ORPHA:94065 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Intestinal obstruction, Abnormal eyebrow morphology, Agangli... |
ORPHA:897 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Platyspondyly, Flattened metacarpal heads |
OMIM:271600 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cataract, Micrognathia, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Low-set e... |
ORPHA:93267 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyly, Split foot, Cut... |
DECIPHER:46 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ... |
OMIM:618569 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cataract, Posteriorly rotated ears, Facial palsy, Microgna... |
ORPHA:2780 |
Diprosopus |
|
Abnormality of retinal pigmentation, Abnormality of the nose, External ear malformation, Non-midl... |
ORPHA:1681 |
Muscle-Eye-Brain Disease |
|
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Brachydactyly, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Synophrys, Deep philtrum, Protruding ear, Short philtrum, Joint contracture of the 5th finger, De... |
OMIM:620098 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Cataract, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Retin... |
OMIM:614105 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the outer ear, High, narrow palate |
ORPHA:2515 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Abnormality of skin pigmentation, Short philtrum, Holop... |
ORPHA:1449 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd... |
OMIM:601358 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Micrognathia, Bowing of th... |
OMIM:255800 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing |
ORPHA:1858 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Congenital hip dislocation, Posteriorly rotated ears, Limited elbow movement, Prominen... |
OMIM:300280 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic... |
OMIM:607095 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Short metatarsal, Paresthesia, Short 3rd metacarpal, Br... |
ORPHA:79444 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Micrognathia, High, narrow palate, High palate, Anteverted nares, Brushfield spots, Wide anterior... |
OMIM:214100 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis ... |
OMIM:166300 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyse... |
OMIM:300863 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Micrognathia, Synophrys, Tooth malposition, Wide nasal br... |
ORPHA:529962 |
Coffin-Siris Syndrome 5 |
|
Sandal gap, Arachnodactyly, Cerebellar hypoplasia, Dandy-Walker malformation, Short distal phalan... |
OMIM:616938 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Protruding ear,... |
ORPHA:776 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Broad-based gait, Ataxia, Hypoplasia of the pons, Retrocerebellar cyst, Talipes equinovarus, Camp... |
ORPHA:397709 |
Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Prominent nose, Micrognathia, Diastema, Bulb... |
OMIM:620185 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Pierre-Robin sequence, Dow... |
OMIM:611961 |
Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Micrognathia, Hydrocephalus, Cleft palate, Coloboma, Low-set ears, Downsl... |
OMIM:220210 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cataract, Micrognathia, Hydrocephal... |
ORPHA:3301 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Posteriorly rotated ears, Cleft upper lip, Hydrocephalus, Upslanted palpebral fiss... |
OMIM:264480 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... |
ORPHA:1327 |
Usher Syndrome Type 1 |
|
Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m... |
ORPHA:231169 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma, Optic atrophy |
OMIM:274270 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ... |
OMIM:304120 |
Zika Virus Disease |
|
Optic disc hypoplasia, Ankle swelling, Macular atrophy, Wrist swelling, Retinal pigment epithelia... |
ORPHA:448237 |
Pfeiffer Syndrome Type 2 |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Alobar holop... |
OMIM:301043 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Anteverted nares, Optic nerve hypopla... |
OMIM:615583 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,... |
OMIM:617396 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Zellweger Syndrome |
|
Epicanthus, Cataract, Depressed nasal bridge, Abnormal chorioretinal morphology, Corneal opacity,... |
ORPHA:912 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, An... |
ORPHA:506353 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han... |
ORPHA:1801 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Depressed nasal bridge, An... |
ORPHA:404440 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Severe sensorineural... |
OMIM:620186 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Marden-Walker Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Wide anterior fontanel, High, narrow palate, Pyloric ... |
OMIM:248700 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm... |
OMIM:156550 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Prominent metopic ridge, Anteverted nares, Camptodactyly of finger, Depressed n... |
OMIM:616920 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cataract, Malabsorption, Iridocyclitis, Keratoconjunctivitis, Perifoveal ring... |
OMIM:240300 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Microcornea, Conductive hearing impa... |
ORPHA:2710 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Hypopigmented skin pat... |
ORPHA:1825 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc... |
ORPHA:15 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge... |
OMIM:300963 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Anteverted nares, Sparse eyelashes, Optic atrophy, Retrognathia, Hypoplasia of teeth,... |
OMIM:234050 |
Pitt-Hopkins Syndrome |
|
Pes planus, Ataxia, Single transverse palmar crease, Tapered finger, Broad fingertip, Short metat... |
ORPHA:2896 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered finger, Flatte... |
ORPHA:157965 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Epicanthus, Hyperextensibility of the knee, Ectopia lentis, Osteoarthritis, Ir... |
OMIM:130000 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal ep... |
ORPHA:1458 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate |
ORPHA:945 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Sensorineural hearing impairment, Microc... |
ORPHA:139471 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Dee... |
OMIM:610536 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Microcornea, Widely-spaced... |
OMIM:601349 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Cleft palate, Microco... |
OMIM:156610 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Platyspon... |
OMIM:618958 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Brachydactyly |
OMIM:615314 |
Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Micrognathia, Abnormal pupil morphology, Microcorne... |
ORPHA:233 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Small hand, Short foot, Short... |
ORPHA:1001 |
Larsen Syndrome |
|
Short metacarpal, Spatulate thumbs, Elbow dislocation, Talipes equinovalgus, Dislocated wrist, Sh... |
OMIM:150250 |
Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod... |
OMIM:300590 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu varum, Fibula... |
OMIM:602557 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic disc coloboma, Cleft ... |
ORPHA:1790 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ptosis, Epicanthus, Depressed nasal bridge, Bulbous nose, Bilateral microp... |
ORPHA:369891 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Hydrocephalus, Wide nasal bridg... |
OMIM:612651 |
Non-Distal Deletion 10Q |
|
Brachydactyly, Ataxia, Gait disturbance, Clinodactyly of the 5th finger, Overlapping fingers, Bil... |
ORPHA:1581 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Conjunctivitis, Short philtr... |
OMIM:616268 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Protrudi... |
OMIM:261540 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Carious teeth, Hip dislocation,... |
OMIM:203550 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Wide nose, Hypoplasia of the maxilla, Optic atrophy, Cleft palate, Low-set ears, Short no... |
OMIM:614261 |
3-Methylglutaconic Aciduria, Type Iv |
|
Single transverse palmar crease, Cerebellar dysplasia |
OMIM:250951 |
Deafness, X-Linked 7 |
|
Ptosis, Telecanthus, Posteriorly rotated ears, Wide nasal bridge, Unilateral microphthalmos, Atre... |
OMIM:301018 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dental crowding, Micrognathia, Coloboma, High palate, Short philtrum, Microdontia, Abnormality of... |
ORPHA:251028 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Open mouth, Synophrys, Submucous cleft... |
OMIM:617412 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Micrognathia, Sensorineural hearing impairment, Wide nasal bridge, Prot... |
ORPHA:2479 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Irregular vertebral endplate... |
OMIM:618395 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Depressed nasal bridge, Retinal dystrophy, Intestinal malrotation, ... |
OMIM:222448 |
Hartsfield Syndrome |
|
Wide nose, Epicanthus, Posteriorly rotated ears, Median cleft lip, Craniosynostosis, Alobar holop... |
OMIM:615465 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Coloboma, High palate, Anteverted nares, Cleft lip, Low-set ears, Smooth philtrum, ... |
OMIM:616975 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Telecanthus, Occipital encephalocele, Posteriorly rotated ears, R... |
OMIM:615948 |
Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Choreoathetosis... |
ORPHA:79443 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Shortening of all... |
OMIM:616809 |
Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg... |
ORPHA:3447 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Malar prominence, Abnormal ... |
ORPHA:2715 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hy... |
OMIM:241800 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Short neck, Clinodactyly, Hydrocephalus, Low-set ears, Overfolded helix, Heari... |
ORPHA:251046 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
OMIM:218000 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Conductive hearing imp... |
OMIM:235510 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Synophrys, Otitis media, Thickened helices, Conductive hearing impairment, Chronic o... |
ORPHA:581 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Highly arched eyebrow, Diastema, Bilateral ptosis, Bulbous nose, Synoph... |
ORPHA:329224 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,... |
OMIM:234100 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
Pelger-Huet Anomaly |
|
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Pes cavus, Short 4th... |
OMIM:169400 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Rhizomelia, Ataxia, Micrognathia, Phalangeal cone-shaped epiphyses, Postaxial hand polydactyly, S... |
OMIM:266920 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, Knee flexion contrac... |
OMIM:618162 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Short palm |
OMIM:618522 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Knee flexion contracture, Attenuation of retinal blood vessels, Low-set, posteriorly rotated ears... |
ORPHA:468631 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Spott... |
OMIM:619719 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Brachydactyly |
ORPHA:2956 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Eyelid coloboma, Anotia,... |
ORPHA:268249 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Bulbous nose, Upslanted palpebral fissure, Macroglossia, Coloboma, Wide m... |
OMIM:616789 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
Charge Syndrome |
|
Anophthalmia, Micrognathia, Coloboma, Holoprosencephaly, Iris coloboma, Facial palsy, Cleft upper... |
OMIM:214800 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Shallow orbits, Conductive... |
OMIM:182212 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly |
ORPHA:1914 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ... |
ORPHA:95699 |
Hypomelanosis Of Ito |
|
Syndactyly, Macular hypopigmented whorls, streaks, and patches, Hand polydactyly, Radial deviatio... |
OMIM:300337 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Smooth philtrum, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Hip dislocation, Prot... |
ORPHA:481152 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow greater s... |
OMIM:602271 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly |
OMIM:618618 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender long bones with... |
OMIM:608154 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Epicanthus, Jejunal atresia, Ileal atresia, Micrognathia, Epicanthus i... |
OMIM:618820 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Micrognathia, Fractures of the long bones, Platyspon... |
ORPHA:319195 |
Kabuki Syndrome |
|
Orofacial cleft, Protruding ear, Microcornea, Coloboma, High palate, Widely spaced teeth, Microdo... |
ORPHA:2322 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Hand clenching |
ORPHA:37612 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... |
OMIM:211750 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Epicanthus, Micrognathia, External ear malformation, Cleft pal... |
ORPHA:2505 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Median cleft lip, Orofacial cleft, Aplasia of the nose, Atresia of the external auditory canal, H... |
ORPHA:3186 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Hydrocephalus, Holoprosencephaly, Hearing impairment |
ORPHA:93274 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Anteverted nares, Tented upper lip vermilion, Uplifted earlobe, Cleft palat... |
OMIM:616449 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology, Short middle phalan... |
ORPHA:63442 |
Costello Syndrome |
|
Keratoconus, Low-set, posteriorly rotated ears, Epicanthus, Generalized hyperpigmentation, Depres... |
ORPHA:3071 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... |
ORPHA:90654 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration |
OMIM:275400 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Depressed nasal bridge, Lens luxation, Ectopia lentis, Hypoplasia of the ... |
OMIM:608328 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Highly arched eyebrow, Hypoplasia of ... |
OMIM:609460 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Clinodactyly, Large fleshy ears, Thoracic kyphosis, Low-set ears, Ove... |
OMIM:619092 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Prominent nose, Downturned corners of mouth, Choanal stenosis, Short philt... |
OMIM:601808 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Micrognathia, Abnormal foot morphology, Hydrocephalus, Adducted thumb, Cutaneous... |
OMIM:617822 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Otofaciocervical Syndrome |
|
Depressed nasal bridge, Anteverted nares, Protruding ear, Abnormal antihelix morphology, High pal... |
ORPHA:2792 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Mend Syndrome |
|
Telecanthus, Cataract, Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia,... |
ORPHA:401973 |
Progressive Osseous Heteroplasia |
|
Hypermelanotic macule, Brachydactyly |
ORPHA:2762 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma, Cleft palate, Cleft upper lip |
OMIM:600251 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, Coloboma, High palate, Short philtrum, Wide ... |
OMIM:309500 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Erythrokeratodermia Variabilis |
|
Hypermelanotic macule, Tapered finger, Patchy palmoplantar hyperkeratosis, Irregular hyperpigment... |
ORPHA:317 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure, Macrotia, Anal atr... |
ORPHA:93950 |
Endove Syndrome, Limb-Brain Type |
|
Toe syndactyly, Aplasia of the 3rd finger, Umbilical hernia, Cerebellar agenesis, Triangular tibi... |
OMIM:619218 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... |
ORPHA:93352 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Protruding ear, Tibial bowing, Hypoplastic iliac wing, Small earlobe, Abno... |
ORPHA:93315 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Ankle clonus, Overlapping toe, Ataxia |
OMIM:618598 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill... |
OMIM:601812 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition... |
ORPHA:2095 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Hyperlordos... |
OMIM:253010 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Abnormal oral mucosa morphology, Micrognathia, Long nose, High, narrow palate, Downturned corners... |
ORPHA:1968 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Micrognathia, Cleft upper lip, Cleft palate, Microtia, Bifid nose, Atresia of th... |
OMIM:239800 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Micrognathia, Premature graying of hair, Conductive hearing impairment, Hypoplastic... |
OMIM:113620 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Abnormal metaphysis morphology, Limb undergrowth |
ORPHA:1861 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Telecanthus, Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive ... |
ORPHA:2010 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver... |
OMIM:212780 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t... |
ORPHA:2635 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko... |
ORPHA:2714 |
Holoprosencephaly 11 |
|
Cleft lip, Synophrys, Cleft palate, Holoprosencephaly, Thick eyebrow |
OMIM:614226 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Anteriorly placed anus, Choanal stenosis, High palate, Bifid uvula, Anteverted nares, Depressed n... |
OMIM:123790 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... |
ORPHA:290 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Microcor... |
OMIM:268400 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration, Abnormality of the dentition |
OMIM:251700 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Persistence of primary teeth, Conical tooth, Optic atrophy, Wide nasal bridge, Dental m... |
OMIM:618727 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Coxa valga, Hypoplastic vertebral bodies, Holoprosencephaly,... |
ORPHA:2163 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Platyspondyly, Shor... |
OMIM:614524 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Cataract, Ectropion, Carious teeth, Pyloric stenosis, Developmental cataract, Low-se... |
OMIM:616395 |
Marcus-Gunn Syndrome |
|
Unilateral ptosis, Abnormal ear morphology, Choanal atresia, Morning glory anomaly, Abnormal fift... |
ORPHA:91412 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, High palate, Conductive... |
ORPHA:2751 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla, Dislocated radial head |
ORPHA:2975 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, B... |
OMIM:300166 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Cerebellar vermis hypoplasia, Toe syndactyly, Short femur, Mesoa... |
OMIM:277170 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Micrognathia, Short foot, Abnormal diaphysis morphology,... |
ORPHA:3409 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Sandal gap, Abnormal finger morphology, Clubbing of toes, Abnormal epiphysis morpholo... |
ORPHA:3051 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Epicanthus, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hama... |
OMIM:269860 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Coxa vara, Hypopla... |
OMIM:313400 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Micrognathia, Metaphyseal chondrodysplasia, Cafe-au-lait... |
OMIM:250410 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Hitchhiker thumb, Thoracolumbar scoliosis, Single transverse p... |
ORPHA:2437 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
Wiedemann-Steiner Syndrome |
|
Pes planus, Broad-based gait, Tapered finger, Micrognathia, Contracture of the distal interphalan... |
OMIM:605130 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Microdontia, Bifid uvula, Depressed nasal bridge, Cleft... |
OMIM:129400 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnor... |
ORPHA:1782 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... |
ORPHA:508533 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, Small hand, Spina bifida occulta, Short 4th metacarpal |
ORPHA:1787 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Large fleshy ears, High palate, Bifid uvula, Supernumerary tooth, Wide nose, Genera... |
ORPHA:3473 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Upper limb as... |
ORPHA:1597 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda... |
OMIM:615986 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyph... |
OMIM:231070 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Inability to walk, Small hand, Narrow palm, Short foot, Campt... |
OMIM:615547 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Ataxia, Micrognathia, Central Y-... |
ORPHA:2754 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Kyphosis, Scoliosis |
OMIM:300676 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Posteriorly rotated ears, Broad nasal tip, Micrognathia, Abn... |
OMIM:618529 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Blepharop... |
ORPHA:293725 |
Multiple Sulfatase Deficiency |
|
Smooth philtrum, Abnormality of retinal pigmentation, Cataract, Anteverted nares, Depressed nasal... |
ORPHA:585 |
Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma, Bulbous nose, Macrotia, Anal atresia |
OMIM:617695 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Micrognathia, Wide nasal bridge, Large earlobe, Abnormal antihelix morphol... |
ORPHA:1438 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Craniosynostosis, Hearing abnormality,... |
ORPHA:1555 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted ... |
ORPHA:1915 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal pinna morphology, Abnormal external nose morphology, High palate, Holoprosencephaly, Low... |
ORPHA:556955 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Genu varum, Hip dislocat... |
OMIM:619451 |
Cocaine Embryofetopathy |
|
Encephalocele, Short distal phalanx of finger |
ORPHA:1911 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Highly arched eyebrow, Long philtrum, Microphthalmia... |
OMIM:300887 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Smooth philtrum, Anteverted nares, Corneal opacity, Posteriorly rotated ears, Micrognathia, Kerat... |
OMIM:602562 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Optic atrophy, Retinal dysplasia, Hol... |
OMIM:253800 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Downturned corners of mouth, High palate, Conductive hearing impairment, Iris colob... |
OMIM:605627 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Choanal atresia, Cleft upper lip, ... |
OMIM:607597 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Abnor... |
ORPHA:93329 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, R... |
ORPHA:293939 |
Nablus Mask-Like Facial Syndrome |
|
Hypoplasia of the maxilla, High palate, Small earlobe, Depressed nasal bridge, Anteverted nares, ... |
OMIM:608156 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Optic atrophy, D... |
ORPHA:1493 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Abnormally ossified vertebrae, Lumba... |
ORPHA:94068 |
Usher Syndrome Type 3 |
|
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Vestibular ... |
ORPHA:231183 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
ORPHA:2776 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Impaired tactile sensation, Syndactyly, Clinodactyly |
OMIM:619091 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Pyloric stenosis, S... |
ORPHA:457279 |
Fraser Syndrome 1 |
|
Cleft ala nasi, Anophthalmia, Dental crowding, Malformed lacrimal duct, Choanal stenosis, Conduct... |
OMIM:219000 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee... |
OMIM:600920 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve... |
OMIM:614643 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Low-set, posteriorly rotated ears, Finger syndactyly, Arachnodactyly, Camptoda... |
ORPHA:2994 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Sensorineur... |
ORPHA:959 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Posteriorly rotated ears, Abnormal pinna... |
ORPHA:228396 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Fronta... |
ORPHA:1528 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... |
OMIM:215140 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Epicanthus, Depressed nasal bridge, Hydrocephalus, Large earlobe, Microphthalmia, Downslanted pal... |
OMIM:602501 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Cataract, Odontogenic keratocysts of the jaw, Narrow mouth... |
ORPHA:77301 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Sparse eyelashes, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, C... |
OMIM:300946 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ... |
OMIM:617866 |
Dubowitz Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, Abnormality of skin pigmentation, High palate, Spi... |
ORPHA:235 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Depressed nasal bridge, An... |
ORPHA:819 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Depressed nasal ridge, Cle... |
OMIM:613885 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Depressed nasal bridge, Abnormal pinna morphology, Sparse eyelashes, Sparse eyebrow, Se... |
ORPHA:35173 |
Holoprosencephaly 14 |
|
Median cleft lip, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Cle... |
OMIM:619895 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft pal... |
OMIM:615524 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb... |
ORPHA:93360 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of fi... |
ORPHA:1101 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Hearing abnormality, Cupped ear, Ocular albinism, Wide nasal bridge, Anteriorly pla... |
ORPHA:1352 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Cleft upper lip, Cleft palate, Central poste... |
OMIM:244600 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Enamel hypoplasia, Macrotia, Palmoplantar keratoderma |
OMIM:613576 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Hydrocephalus, Developmental cataract, Macroglossia, Microphthalmia |
OMIM:613155 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen... |
OMIM:142900 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal... |
ORPHA:397715 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b... |
OMIM:151210 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm,... |
OMIM:300232 |
Doors Syndrome |
|
Short lingual frenulum, Downturned corners of mouth, High palate, Widely spaced teeth, Spina bifi... |
ORPHA:79500 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Rhizom... |
ORPHA:763 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Underdeveloped nasal alae, Wide nasal... |
OMIM:613456 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
Achondroplasia |
|
Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Conductive hearing impairment, ... |
OMIM:100800 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Bu... |
OMIM:614437 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of ... |
OMIM:613717 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Trisomy 12P |
|
Epicanthus, Thick eyebrow, Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of t... |
ORPHA:1699 |
Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... |
ORPHA:99772 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Cataract, Epicanthus, Palpebral edema, Hearing impairment, M... |
OMIM:614866 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Sandal gap, Short toe, Clinodactyly of the 5th finger, Spina bifida occulta, Sh... |
OMIM:617877 |
Joubert Syndrome 33 |
|
Syndactyly, Ataxia |
OMIM:617767 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Prominent nose, Micrognathia, Developmental cataract, Micropht... |
OMIM:610756 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Microcornea... |
OMIM:309800 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Trisomy 9P |
|
Dental crowding, Abnormal nasal morphology, Abnormal pupil morphology, Non-midline cleft lip, Pro... |
ORPHA:236 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Camptodactyly of finger, Micrognathia, Malar prominence, Microcornea, Long eyelashes, M... |
ORPHA:48431 |
Cerebellar-Facial-Dental Syndrome |
|
Cataract, Anteverted nares, Micrognathia, Sparse eyebrow, Dental malocclusion, Wide nasal bridge,... |
ORPHA:444072 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Holoprosencephaly, Bifid uvula, Microretrognathia, Anteverted nare... |
OMIM:270400 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly |
OMIM:266265 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Short neck, Mesomelic/rhizomelic limb shortening, ... |
ORPHA:2347 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ... |
OMIM:143095 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Non-midline cleft lip, Retinopathy |
ORPHA:1995 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Iliac crest serration, Abnormal metacarp... |
ORPHA:168549 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Short neck,... |
OMIM:305400 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Epicanthus, Depressed nasal bridge, Sensorineural hearing impairment, Lobar holoprosencephaly, Mi... |
OMIM:618500 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Micrognathia, Hydrocephalus, Submucous cleft har... |
ORPHA:2189 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham... |
OMIM:251750 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microcornea, Col... |
OMIM:610125 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Kyphosis, Elbow flexion contracture, Vertebral wedging, Cox... |
OMIM:259450 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93260 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Short... |
OMIM:617137 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Hydrocephalu... |
OMIM:224400 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Brushfield spots, Hypopigmented skin patches, Abnormal epiph... |
ORPHA:1784 |
Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn... |
OMIM:610017 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment, Carious teeth, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
Ohdo Syndrome, X-Linked |
|
Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Depressed nasal brid... |
OMIM:300895 |
Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia... |
OMIM:107480 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Narrow nasal ridge, Prominent nose, Hiatus hernia, Micrognathia, Macrotia, ... |
OMIM:251300 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Sensorineural hearing impairm... |
ORPHA:52055 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Cataract, Anophthalmia, Hypermelanoti... |
ORPHA:90321 |
3Q29 Microdeletion Syndrome |
|
Cataract, Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft,... |
ORPHA:65286 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Microg... |
OMIM:216340 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Hydrocephalus, Sandal gap, Brachydactyly |
ORPHA:2180 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Absent eyebrow, Abnormal dental morphology, Selective tooth ... |
ORPHA:1897 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Syndactyly, Cerebellar atrophy |
OMIM:616430 |
Short Syndrome |
|
Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Abnormality of the dentition, Ab... |
ORPHA:3163 |
Isolated Exencephaly |
|
Depressed nasal bridge, Abnormal facial skeleton morphology, Holoprosencephaly, Low-set ears, Hyp... |
ORPHA:563612 |
Cousin Syndrome |
|
Micrognathia, Microcornea, Wrist flexion contracture, Dislocated radial head, Humeroradial synost... |
OMIM:260660 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Broad nas... |
OMIM:619680 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Underfolded helix, Bilateral mi... |
ORPHA:2563 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Thanatophoric Dysplasia Type 1 |
|
Brachydactyly, Short femur, Bowing of the long bones, Micromelia, Hypoplastic ilia, Abnormal sacr... |
ORPHA:1860 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Ankyloblepharon, Pterygium, A... |
OMIM:263650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat... |
OMIM:309520 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius... |
ORPHA:3320 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism... |
ORPHA:710 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... |
ORPHA:2538 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Bilateral camptodactyly, Prominent fingertip pads, Hip ... |
OMIM:619557 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Abnormal ilium mo... |
ORPHA:2655 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, High palate, Bilateral ptosis, Hearing impairment |
ORPHA:329336 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Short foot, Hip dysplasia, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:601427 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac... |
OMIM:271640 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Congenital Toxoplasmosis |
|
Microphthalmia, Abnormality of retinal pigmentation, Hydrocephalus, Hearing impairment |
ORPHA:858 |
Jansen-De Vries Syndrome |
|
Short foot, Broad-based gait, Small hand, Brachydactyly |
OMIM:617450 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, P... |
OMIM:619194 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Hypopigmented skin patches, Genu valgum, Abnormal metacarpal morphology, Short dis... |
ORPHA:1295 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Vi... |
ORPHA:2556 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Short phalanx of f... |
OMIM:300845 |
Coffin-Siris Syndrome 11 |
|
Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Esophageal ... |
OMIM:618779 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal br... |
ORPHA:435638 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Dental crowding, Synophrys, Downturned corners of mouth, Short philtrum, Widel... |
OMIM:301044 |
Gorlin Syndrome |
|
Arachnodactyly, Palmar pits, Hydrocephalus, Plantar pits, Melanocytic nevus, Brachydactyly |
ORPHA:377 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Holoprosencephaly, Lo... |
OMIM:619879 |
Ctcf-Related Neurodevelopmental Disorder |
|
Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set... |
ORPHA:363611 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Elbow... |
ORPHA:628 |
Joubert Syndrome 37 |
|
Wide nose, Prominent metopic ridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge... |
OMIM:619185 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Delayed ... |
OMIM:210710 |
Osteogenesis Imperfecta, Type Iv |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Micrognathia, Coloboma, Abnormal optic disc morphology,... |
ORPHA:508498 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal mo... |
ORPHA:1104 |
Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific... |
ORPHA:353298 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Abnormality of retinal pigmentation, Elbow dislocation, Coxa vara, Irregula... |
ORPHA:1824 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Hypoplasia o... |
ORPHA:1798 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia |
ORPHA:85173 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Bifid nasal tip, Microtia, Atresia of the external auditory canal, Bifid nose, Conductive hearing... |
ORPHA:2213 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Anteverted nares, Exaggerated cupi... |
ORPHA:464738 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Uplifted earlobe, Micrognathia, Synophrys, Microcornea, Microdontia, Depressed nasal bridge, Wide... |
OMIM:616734 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Low-set, posteriorly rotated ears, Prominent metopic ridge, Retinal atrophy, U... |
ORPHA:97297 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Microgn... |
OMIM:300534 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Hearing impairment, High, narrow ... |
OMIM:618494 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Cowden Syndrome 5 |
|
Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fu... |
OMIM:615108 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Protruding ea... |
ORPHA:52 |
Mosaic Trisomy 1 |
|
Microretrognathia, Depressed nasal bridge, Camptodactyly of finger, Abnormal pinna morphology, Th... |
ORPHA:1692 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss... |
OMIM:601492 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Cerebellar hypoplasia, Short palm, Clinoda... |
OMIM:217980 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac... |
ORPHA:3214 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Hand polydactyly, Enlarged cerebellum, Ataxia |
ORPHA:65285 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... |
OMIM:271510 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hydrocephalus, Drumstick terminal phalanges, Umbilical hernia, Dandy-Walker malformation, Brachyd... |
OMIM:612938 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Coffin-Siris Syndrome 7 |
|
Chiari type I malformation, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:618027 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Monosomy 9P |
|
Micrognathia, Synophrys, Anotia, High palate, Depressed nasal bridge, Anteverted nares, Highly ar... |
ORPHA:261112 |
Cerebellofaciodental Syndrome |
|
Cataract, Sparse eyebrow, Dental malocclusion, Genu valgum, Taurodontia, Low-set ears, Macrodonti... |
OMIM:616202 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Posteriorly rotated ears, Broad hallux, Wide anterior fontanel, Hand p... |
OMIM:239710 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Short lower limbs |
OMIM:259440 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
Tonne-Kalscheuer Syndrome |
|
Pes planus, Broad-based gait, Micrognathia, Blue irides, Broad thumb, Brachydactyly |
OMIM:300978 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Abnormal foot morpholo... |
ORPHA:3219 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... |
OMIM:619148 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Narrow nasal bridge, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Pro... |
ORPHA:1806 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Abnormality of the dentition, Atresia of the external auditory canal, Conductive hearing impairme... |
OMIM:221320 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Brachydactyly |
ORPHA:2145 |
Joubert Syndrome 3 |
|
Epicanthus, Anteverted nares, Retinal dystrophy, Highly arched eyebrow, Wide nasal bridge, Pigmen... |
OMIM:608629 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Deep philtrum, High palate, Absent eyebrow, Depressed nasal bridge, Anteverted nare... |
OMIM:115150 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, Simple ear, Hip dislocation, High palate, Atresia of the external auditory canal, N... |
OMIM:602471 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Carious teeth, Short ... |
ORPHA:582 |
Hyperreflexia |
|
Ankle clonus, Abnormality of retinal pigmentation |
OMIM:145290 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Umbilical hernia |
ORPHA:1035 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Abnormality of the elbow, Brachydactyly |
ORPHA:2701 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Cataract, Dental crowding, Intestinal malrotation, Carious teeth, Sensorineural hear... |
ORPHA:353281 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Cataract, Depresse... |
OMIM:300990 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Cleft soft palate, Micrognathia, Coloboma, Low-set ears, Downslanted pa... |
OMIM:606851 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Camptodactyly of finger, Abnormal retinal morphology, Prominent nasal b... |
OMIM:610758 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Underfolded helix, Thick lower lip vermilion, Dental maloc... |
OMIM:157980 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida, Micromelia |
ORPHA:63862 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Camptodactyly, Clinodactyly of the 5th finger, Brachy... |
OMIM:619123 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Corneal opacity, Camptodactyly of finger, Hearing impairment, Ectopia lentis... |
ORPHA:2092 |
Distal Deletion 6P |
|
Micrognathia, Orofacial cleft, Hypoplasia of the iris, Downturned corners of mouth, Short philtru... |
ORPHA:96125 |
Schilbach-Rott Syndrome |
|
Epicanthus, Posteriorly rotated ears, Prominent nose, Long nose, Micrognathia, Submucous cleft ha... |
OMIM:164220 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Prominent nasal bridge, Choanal atresia, Lop ear, Sensorineural hearing... |
OMIM:300472 |
Carey-Fineman-Ziter Syndrome |
|
Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova... |
ORPHA:1358 |
Alopecia-Intellectual Disability Syndrome |
|
Split hand, Brachydactyly |
ORPHA:2850 |
Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Brachydactyly |
ORPHA:79414 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, Micrognathi... |
ORPHA:3253 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Wide anterior fontanel, Clinodactyly of the 5th finger, He... |
OMIM:619736 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Duodenal stenosis, Microtia, Microphthalmia, Short nose |
ORPHA:2547 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Cowden Syndrome 6 |
|
Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fu... |
OMIM:615109 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Protruding ear, Abnormal optic... |
ORPHA:2526 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormal dental enamel morph... |
ORPHA:1005 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Low-set ears |
OMIM:620062 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Convex nasal ridge, Hiatus hernia, Micrognathia, Astigmatism, High palate, Long phil... |
OMIM:208050 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Cat Eye Syndrome |
|
Anal stenosis, Epicanthus, Intestinal malrotation, Rectal fistula, Micrognathia, Rectal atresia, ... |
OMIM:115470 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ... |
ORPHA:2879 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Cupped ear, Wide nasal bridge, Microc... |
OMIM:110100 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Anteriorly placed a... |
ORPHA:1488 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Micrognathia, Metaphyseal sclerosis, Small hand, Short foot, Cerebellar hypoplasia |
OMIM:616051 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent t... |
ORPHA:974 |
Lowry-Wood Syndrome |
|
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul... |
OMIM:226960 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the philtrum, Non-midline cleft lip... |
ORPHA:1770 |
Snijders Blok-Campeau Syndrome |
|
Epicanthus, Prominent nose, Wide nasal bridge, Astigmatism, High palate, Widely spaced teeth, Low... |
OMIM:618205 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Ptosis, Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue |
ORPHA:2743 |
Warburg Micro Syndrome 2 |
|
Cataract, Prominent nasal bridge, Asymmetry of the ears, Optic atrophy, Developmental cataract, M... |
OMIM:614225 |
Osteogenesis Imperfecta, Type I |
|
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Choanal atresia, Cleft soft palate, Lacrimal duct stenosis, Micrognathia,... |
OMIM:154500 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Arachnoid Cyst |
|
Encephalocele, Mydriasis, Facial palsy, Vertigo, Hydrocephalus, Cranial nerve compression, Holopr... |
ORPHA:2356 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Widely spaced te... |
OMIM:613451 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Telecanthus, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, ... |
ORPHA:228390 |
Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Metaphyseal widening,... |
OMIM:239850 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Conductive hearing impairment, Spina b... |
OMIM:218600 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Epicanthus, Prominent nasal bridge, Micrognathia, Sensorineura... |
ORPHA:1131 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bull's eye maculopathy, Micrognathia, Hypoplasia of the maxilla, Synophrys, High palate, Vertebra... |
OMIM:213980 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Pes planus, Scapular winging, Single transverse palmar crease, Micromelia, Mon... |
OMIM:618870 |
Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Pigmentary retinopathy, Sensorineural hearing impairment, Ptosis |
OMIM:619473 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Epicanthus, Telecanthus, Wide nasal bridge, Protruding ear, Genu valgum, H... |
ORPHA:1778 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Spotty hypopigmentation,... |
OMIM:615789 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ptosis, Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, ... |
ORPHA:453499 |
Cardiofaciocutaneous Syndrome |
|
High palate, Thickened helices, Low-set, posteriorly rotated ears, Anteverted nares, Depressed na... |
ORPHA:1340 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Up... |
OMIM:616462 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... |
OMIM:113650 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Depressed nasal bridge, Anteverted nares, Camptodact... |
ORPHA:920 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Genu recurvatum, Corneal opacity, Abnormal nasal morphology,... |
ORPHA:578 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Micrognathia |
ORPHA:1514 |
3C Syndrome |
|
Finger syndactyly, Micrognathia, Missing ribs, Hydrocephalus, Hand polydactyly, Abnormal hip bone... |
ORPHA:7 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cerebellar hyp... |
OMIM:616038 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology... |
ORPHA:1842 |
Witteveen-Kolk Syndrome |
|
Glue ear, Uplifted earlobe, High, narrow palate, Protruding ear, Anisocoria, High palate, Short p... |
OMIM:613406 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Abnormal diaphysis morpholo... |
ORPHA:1657 |
Rothmund-Thomson Syndrome Type 2 |
|
Hypopigmentation of the skin, Short metacarpal, Plantar hyperkeratosis, Hyperpigmentation of the ... |
ORPHA:221016 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, Camptodactyly of finger, Brachydactyly |
ORPHA:2863 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Retinal detachment, Abnormal optic chiasm morphology, Cataract, Prominent nasal bridge, Cleft sof... |
ORPHA:268261 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Ataxia, T... |
ORPHA:488642 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Short 4th metacarpal, Short clavicles |
OMIM:606220 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Accessory carpal bones, Vertebral segmentation defect, Abnormal... |
ORPHA:503 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Co... |
OMIM:248390 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy |
ORPHA:3156 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypopigmentation of the skin, Short metacarpal, Plantar hyperkeratosis, Hyperpigmentation of the ... |
ORPHA:221008 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, High palate, Short philtrum, Median cleft palate, Prominent metop... |
OMIM:617746 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Prominent nose, High palate, Spontaneous conjunctival filtering bleb, Bifid uvula, Iris atrophy, ... |
OMIM:601552 |
7Q31 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Wide nasal ridge, Short palpebral fissure, Prominent nose, Hypoplasia of... |
ORPHA:251061 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate... |
ORPHA:313892 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Ablepharon, Telecanthus, Ectropion, Anteverted nares, Abnormal pinna m... |
ORPHA:1231 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Rodrigues Blindness |
|
Narrow nasal bridge, Sclerocornea, Protruding ear, Microcornea, Microphthalmia, Tooth malposition |
OMIM:268320 |
Weill-Marchesani Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:3449 |
Hypertrichosis Cubiti |
|
Abnormality of the elbow, Rhizomelia, Micromelia |
ORPHA:2220 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Anal stenosis, Optic disc hypoplasia, Choanal atresia, Aganglion... |
OMIM:607323 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Neural tube defect, Microph... |
OMIM:600776 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... |
OMIM:216300 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence,... |
OMIM:620183 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Microdontia, Antevert... |
ORPHA:93357 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Few cafe-au-lait spots, Posteriorly rotated ears, Dental crowding, Protruding tongue, Broad nasal... |
OMIM:618106 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th... |
ORPHA:137834 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Platyspondyly, Abnormal epiphysis m... |
ORPHA:2107 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Peters anomaly, Microphthalmia, Downslanted ... |
OMIM:614526 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Histiocytoid Cardiomyopathy |
|
Corneal opacity, Hydrocephalus, Optic atrophy, Cleft palate, Microphthalmia, Megalocornea, Congen... |
ORPHA:137675 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormal vestibular function, Cataract, Abnormality of denta... |
ORPHA:886 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Submuco... |
OMIM:222765 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, ... |
ORPHA:1865 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... |
ORPHA:2788 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Posteriorly rotated ears, Sclerocornea, Uplifted earlobe, Microg... |
OMIM:607932 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... |
OMIM:310600 |
Curry-Jones Syndrome |
|
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... |
OMIM:601707 |
Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep... |
OMIM:602400 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Anteverted nares, Aganglionic mega... |
ORPHA:2059 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Protruding ear... |
OMIM:614856 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ... |
ORPHA:53271 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Increased intervert... |
OMIM:224300 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Generalized hyperpigmentation, Sparse eyelash... |
ORPHA:1071 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ... |
OMIM:520000 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Depressed nasal bridge, Ectopia lentis, Hypoplasia of the maxilla, Microspherophakia, N... |
OMIM:277600 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Coloboma, High palate, Otitis media, Conductive hearing impairment... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Coloboma, High palate, Otitis media, Conductive hearing impairment... |
ORPHA:353277 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Knee flexion contracture, Coloboma, Eyelid coloboma, High palate, Shallow orbits, W... |
OMIM:268300 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Epicanthus, Congenital hip dislocation, Pyloric stenosis, Atresia of the external auditory canal,... |
OMIM:133705 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Pes valgus, Br... |
OMIM:614376 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Depressed nasal bridge, Micrognathia, Carious teeth, Depress... |
ORPHA:742 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte... |
ORPHA:163654 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Prominent nasal... |
ORPHA:357058 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormal eyelid morphology... |
ORPHA:1812 |
Craniofacioskeletal Syndrome |
|
Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Cerebellar hypopla... |
OMIM:300712 |
Joubert Syndrome 22 |
|
Microphthalmia, Coloboma, Retinal dysplasia |
OMIM:615665 |
Geroderma Osteodysplastica |
|
Mandibular prognathia, Beaking of vertebral bodies, Hip dislocation, Abnormal form of the vertebr... |
ORPHA:2078 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Clino... |
OMIM:180860 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia... |
ORPHA:2521 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Prominent nasal bridge, Cleft soft palate, Hiatus hernia, Eosinophili... |
OMIM:615582 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed ... |
ORPHA:1299 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Retinal detachment, Cataract, Abnormal chorioretinal morphology, Campt... |
ORPHA:464 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:613604 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Smooth philtrum, Wide nose, Prominent nasal bridge, Hypoplasia of the ... |
ORPHA:50814 |
Laron Syndrome |
|
Short toe, Abnormality of the elbow, Micrognathia, Brachydactyly |
ORPHA:633 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Cataract, Freckling, Malabsorption, Retrognathia, Triangular mouth, Protr... |
OMIM:601675 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Synophrys, Downturned corners of mouth, Periodontitis, Iris... |
ORPHA:955 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Micrognathia, Microdontia, Micro... |
ORPHA:3191 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Pes planus, Short fourth metatarsal, Short fifth metatarsal, Cerebel... |
OMIM:619841 |
Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
Neu-Laxova Syndrome |
|
Cataract, Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Spina bifida, Abn... |
ORPHA:2671 |
Cowden Syndrome 1 |
|
Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fu... |
OMIM:158350 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis, Allergic rhinitis |
OMIM:603165 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Conical incisor, Conjunctivitis, Microdontia, Corneal perfor... |
OMIM:149730 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Platyspondyly, Short ... |
OMIM:616229 |
Distal 17P13.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Limited elbow movement, Protruding ear, High palate, Hypoplasia of the zy... |
ORPHA:319171 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Oculocerebrocutaneous Syndrome |
|
Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Orbital cyst, Cl... |
OMIM:164180 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal... |
ORPHA:3412 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Ptosis, Blepharophimosis, Microdontia, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced... |
ORPHA:2728 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Hypop... |
ORPHA:1553 |
Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Holoprosencephaly |
OMIM:300706 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Vertebral segmentation d... |
ORPHA:1323 |
Joubert Syndrome 2 |
|
Encephalocele, Depressed nasal bridge, Retinal dystrophy, Hydrocephalus, Optic disc coloboma, Hig... |
OMIM:608091 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Anteverted nares, Prominent nasal bridge, Optic atroph... |
OMIM:615663 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... |
OMIM:609638 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia |
OMIM:615181 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Myhre Syndrome |
|
Mandibular prognathia, Ptosis, Craniofacial hyperostosis, Cataract, Hypoplasia of the maxilla, Su... |
ORPHA:2588 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Opsismodysplasia |
|
Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm... |
ORPHA:2746 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Telecanthus, Anteverted nares, Camptodactyly of finger, Craniosynost... |
ORPHA:2462 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... |
ORPHA:83463 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Hoode... |
OMIM:612863 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb |
ORPHA:1794 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta, White forelock |
ORPHA:2475 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the ... |
ORPHA:1786 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Almond-shaped palpebral fissure, Epiblepharon, Bul... |
OMIM:619103 |
Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Blepharophimosis, Bulbous nose, Submucous cleft hard palate, Velophary... |
OMIM:192430 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Ptosis, Intestinal p... |
OMIM:309900 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Depressed nasal ridge, Orofacial cleft, High palate, Conductive hearing impairment, Th... |
OMIM:607872 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E... |
ORPHA:199302 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Short philtrum, Conductive hearing impairment, Chronic ... |
ORPHA:567 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Hearing impairment |
ORPHA:480 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Craniosynostosis, C... |
ORPHA:83 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Abnormality of the dentition |
ORPHA:3363 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Ptosis, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal mal... |
OMIM:243180 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Amelia |
OMIM:601163 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Acrofacial Dysostosis 1, Nager Type |
|
Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absent lower eyelashes, Conductive hea... |
OMIM:154400 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Epicanthus, Depressed nasal bridge, Intestinal malrotation, Ab... |
ORPHA:35107 |
1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Bulbous nose, Sensorineural hearing impairment, Hydrocephalus, Wide nasal b... |
ORPHA:250989 |
Smith-Magenis Syndrome |
|
Pes planus, Impaired pain sensation, Broad palm, Short palm, Abnormal forearm morphology, Brachyd... |
OMIM:182290 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Chiari type I malformation, Overla... |
OMIM:618316 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa v... |
OMIM:601370 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Den... |
OMIM:617883 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Hydroce... |
OMIM:187600 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Depressed nasal bridge, Abnormal den... |
ORPHA:1452 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M... |
ORPHA:570 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Patellar... |
OMIM:613805 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Holoprosencephaly, Bifid uvula, Low-set, posteriorly rotated ears, Microre... |
ORPHA:672 |
Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Intestinal malrotation, Spina bifida, Elbow dislocation... |
ORPHA:99776 |
Cockayne Syndrome B |
|
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Delayed e... |
OMIM:133540 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy, Astigmatism |
OMIM:268060 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Cornelia De Lange Syndrome |
|
Micrognathia, Synophrys, Microcornea, Downturned corners of mouth, High palate, Widely spaced tee... |
ORPHA:199 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Mandibular prognathia, Cataract, Anteverted nare... |
ORPHA:2969 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Choroidal ne... |
ORPHA:51608 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pes planus, Pain insensitivity, Congenital hip dislocation, Tapered finger, Micrognathia, Hypopla... |
OMIM:616007 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium, ... |
ORPHA:1433 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly |
ORPHA:3306 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Cataract, Optic atrophy |
OMIM:617255 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma, Hydrocephalus |
ORPHA:141333 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly |
ORPHA:2824 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Shashi-Pena Syndrome |
|
Short metacarpal, Deep palmar crease |
OMIM:617190 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m... |
ORPHA:50945 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Brachydactyly, Limited elbow extension and supination, Dislocated radial head |
ORPHA:401935 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate, Horizontal eyebrow |
ORPHA:209908 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Protruding ear, Abnormality of skin pigmentation, Coloboma, High ... |
OMIM:619475 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia |
OMIM:300843 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... |
ORPHA:99646 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing... |
ORPHA:485405 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e... |
OMIM:615877 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Pseudoaminopterin Syndrome |
|
Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow moveme... |
ORPHA:221120 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Plantar pits, Irregular ossific... |
OMIM:109400 |
Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Umbilical hernia, Short ribs, Micromelia |
OMIM:600972 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short long bone, Dysgenesis of the cerebellar vermi... |
OMIM:619479 |
Geleophysic Dysplasia 1 |
|
Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f... |
OMIM:231050 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Pigmentary retinopathy, Hip dislocation, Facial palsy |
ORPHA:370968 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Anteverted nares, Abnormal eyelash morphology, Optic atrophy... |
ORPHA:2518 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Craniosynostosis, Hiatus hernia, Pyloric stenosis, Abnormal zygomatic bone morpholog... |
ORPHA:3342 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Marfan Syndrome |
|
Retinal detachment, Cataract, Genu recurvatum, Protrusio acetabuli, Dental crowding, Ectopia lent... |
OMIM:154700 |
Mmep Syndrome |
|
Mandibular prognathia, Microphthalmia, Median cleft lip, Orofacial cleft |
ORPHA:3434 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Peters anomaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Pigm... |
OMIM:309801 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Micrognathia, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hyp... |
OMIM:253280 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Telecanthus, Camptodactyly of finger, Lip pit, Large earlobe, Hypodontia, ... |
ORPHA:1236 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Ptosis, Mandibular prognathia, Protruding tongue, Optic atrophy, ... |
ORPHA:72 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Mandibular prognathia, Finger syndactyly, Branchial cyst, Single transverse palmar crease, Tapere... |
ORPHA:435938 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, De... |
OMIM:607812 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal... |
OMIM:613320 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Microdontia, Genu varum, M... |
OMIM:224690 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Depressed nasal bridge, Abnormal pinna morphology, Hamartoma of tongue, Esophageal d... |
OMIM:617925 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:604292 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia |
OMIM:226700 |
Achondrogenesis Type 1A |
|
Micromelia, Micrognathia, Short foot, Short palm, Umbilical hernia |
ORPHA:93299 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Aplasia/Hypoplasia of the cerebellar vermis, Dee... |
ORPHA:254346 |
Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Buratti-Harel Syndrome |
|
Epicanthus, Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, ... |
OMIM:619314 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Mottled pi... |
OMIM:608612 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Epicanthus, Sinusitis, Choanal atresia, Micrognathia,... |
OMIM:251260 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micrognathia, Shor... |
OMIM:616145 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Convex nasal ridge, M... |
OMIM:241410 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cataract |
OMIM:614307 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract |
ORPHA:363741 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Cataract, Anophthalmia, Optic nerve hypoplasia, Sclerocorn... |
OMIM:206900 |
Coffin-Siris Syndrome 6 |
|
Clinodactyly, Micrognathia, Brachydactyly |
OMIM:617808 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten... |
OMIM:241310 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Microretrognathia, Hamartoma of tongue, Prominent nose, Sparse eyebro... |
OMIM:616300 |
Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Short foot, Talipes equinovarus, Umbilical hernia |
ORPHA:93298 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Mandibular prognathia, Prominent nasal bridge, Carious teeth, ... |
ORPHA:1110 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
Saethre-Chotzen Syndrome |
|
Ptosis, Abnormal nasolacrimal system morphology, Narrow nose, Prominent crus of helix, Long nose,... |
OMIM:101400 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Brachydactyly |
ORPHA:436245 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Brachydactyly, Rhizomelia, Broad thumb, Mesomelia |
ORPHA:171866 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormality ... |
ORPHA:513456 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Epicanthus, Blepharophimosis, Bilateral choanal atresia/steno... |
ORPHA:314679 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph... |
OMIM:617425 |
Mowat-Wilson Syndrome |
|
Uplifted earlobe, Microcornea, Widely spaced teeth, Chorioretinal coloboma, Iris coloboma, Wide n... |
OMIM:235730 |
Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Cataract, Prominent nasal brid... |
OMIM:139210 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Chorioretinal dysplasia, Micrognathia, Abnormal pupil mor... |
ORPHA:534 |
Iniencephaly |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofacial cleft, Spina... |
ORPHA:63259 |
Cockayne Syndrome A |
|
Mandibular prognathia, Prominent nose, Abnormality of skin pigmentation, Retinal atrophy, Retinal... |
OMIM:216400 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Underdeveloped nasal alae, Broad nasal tip, High, narrow pala... |
OMIM:272950 |
Achondrogenesis Type 2 |
|
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ... |
ORPHA:93296 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportio... |
OMIM:263520 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Anotia, Atresia of the external a... |
OMIM:608257 |
Kbg Syndrome |
|
Vertebral fusion, Single transverse palmar crease, Short neck, Cutaneous syndactyly, Finger clino... |
ORPHA:2332 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Se... |
OMIM:120330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Retinal dysplasia |
OMIM:614830 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal |
ORPHA:66518 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Camptodactyly of finger, Spina bifida, Shor... |
ORPHA:261318 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Sm... |
OMIM:181270 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Syndactyly, Small hand, Melanocytic nevus |
OMIM:616489 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short thumb, Hypoplasia of the radius, Chiari malformation, Cafe-au-lait spot, Shor... |
OMIM:609053 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Protruding ear, Clinodactyly of the ... |
ORPHA:69085 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Bifid nasal tip, Sparse eyebrow, Unilateral microphth... |
OMIM:618874 |
Toluene Embryopathy |
|
Smooth philtrum, Epicanthus, Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of t... |
ORPHA:1920 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Abnormal pinna morphology, Sparse eyelashes, Malar flattening, Sparse eyebrow, Concave ... |
OMIM:302960 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... |
ORPHA:2920 |
Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Conductive hearing impairment, Finger syndactyly |
ORPHA:1997 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal intervertebral disk morphology, Ca... |
ORPHA:2311 |
Trichorhinophalangeal Syndrome Type 2 |
|
Bilateral single transverse palmar creases, Talipes, Avascular necrosis of the capital femoral ep... |
ORPHA:502 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Epicanthus, Anteverted nares, Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix... |
OMIM:619122 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Posteriorly rotated ears, Fractured radius, Short neck, Micrognathia, Decreased fibu... |
OMIM:616897 |
Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate,... |
ORPHA:2306 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Micrognath... |
OMIM:611209 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Microtia, Long... |
OMIM:608149 |
Trichothiodystrophy |
|
Joint dislocation, Epicanthus, Craniosynostosis, Hypoplasia of mandible relative to maxilla, Cari... |
ORPHA:33364 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Wi... |
OMIM:180500 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodacty... |
ORPHA:397590 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Choanal atresia, Micrognathia, Cleft palate, Microtia, Atresia of the e... |
OMIM:613309 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Congenital hip dislocation, Posteriorly rotated ears, Cleft soft palate, Epicanthu... |
OMIM:117650 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Cerebellar atrophy, Microretrognathia, Pes cavus, Proportionate shortening of all digits, Tapered... |
ORPHA:280633 |
Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis |
ORPHA:2771 |
Khan-Khan-Katsanis Syndrome |
|
Tented upper lip vermilion, Delayed closure of the anterior fontanelle, Highly arched eyebrow, Tr... |
OMIM:618460 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment |
ORPHA:101082 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... |
OMIM:101200 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
Specific Granule Deficiency 2 |
|
Sandal gap, Brachydactyly |
OMIM:617475 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Optic disc pallor, Cataract, Neonatal death |
OMIM:613730 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Arachnodactyly, Slender long bones with narrow diaphyses, Sco... |
ORPHA:536467 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micr... |
OMIM:610706 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Ptosis, Epicanthus, Posteriorly rotated ears, Anophthalmia, Underdeveloped n... |
ORPHA:264200 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Short metatarsal, Cubitus valgus, Short distal phalanx of finger, Brachydactyly |
OMIM:617157 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... |
ORPHA:783 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... |
ORPHA:2753 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Epicanthus, Aganglionic megacolon, Hydrocephalus, Wide ... |
OMIM:613603 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ... |
ORPHA:1512 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly |
OMIM:618381 |
Gracile Bone Dysplasia |
|
Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly |
OMIM:602361 |
Diamond-Blackfan Anemia |
|
Epicanthus, Depressed nasal bridge, Cleft soft palate, Micrognathia, Cleft lip, Developmental gla... |
ORPHA:124 |
Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Hearing abnormality, Hip dislocation, Pl... |
OMIM:616507 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... |
ORPHA:2554 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cataract, Narrow nose, Carious teeth, Macr... |
ORPHA:90324 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ... |
OMIM:603671 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Pain insensitivity, Sandal gap, Single transverse palmar crease, Tapered finger... |
OMIM:617061 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Tapered finger, Short thumb, Clinodactyly of the 5th finger, Enlarged cerebellum, Brachydactyly |
ORPHA:477993 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, High palate, Short philtr... |
OMIM:617140 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Flexion contracture of finger, Bone spicule pigmentation of the retina, Cataract, Decreased senso... |
OMIM:609033 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ... |
OMIM:253220 |
Cockayne Syndrome |
|
Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retinal atrophy, Abnormal den... |
ORPHA:191 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon... |
OMIM:610915 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
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Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Becker Nevus Syndrome |
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Upper limb asymmetry, Abnormal tibia morphology, Spina bifida occulta, Micromelia |
ORPHA:64755 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Wide anterior fontanel, Abnormal ea... |
ORPHA:116 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Coach Syndrome 2 |
|
Coloboma, Hydrocephalus, Chorioretinal coloboma |
OMIM:619111 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Medial flaring of the eyebrow, Smooth philtrum, Dental crowding, Intestinal malrotation, Narrow n... |
OMIM:617602 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge, Sparse lateral eyebrow |
OMIM:614564 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the ear, Subcapsular cataract |
OMIM:268020 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Fg Syndrome Type 1 |
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Finger syndactyly, Limited elbow extension and supination, Broad toe, Pes planus, Single transver... |
ORPHA:93932 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Micrognathia, Abnormality of skin pigmentation, High palate, Spina bi... |
ORPHA:84 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, U... |
OMIM:221900 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Sensorineural hearing impairment, Short toe, Cone-shaped epiphyses of the phalanges of the hand, ... |
OMIM:619269 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Cupped... |
OMIM:263750 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Pigmentary retinopathy, Postaxial polydactyly |
OMIM:605231 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Micrognathia, Metatarsus adductus, Flared metaphysis, Hip dysplasia, Sh... |
OMIM:249420 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Anophthalmia, Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Bifid u... |
ORPHA:2250 |
Coach Syndrome 1 |
|
Encephalocele, Optic disc pallor, Occipital encephalocele, Anteverted nares, Esophageal varix, Wi... |
OMIM:216360 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Abnormality of the dentition, Optic atrophy, Melanocytic nev... |
ORPHA:2801 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi... |
OMIM:268310 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Optic disc coloboma, Opacification of the corneal stroma, Hypoplastic... |
OMIM:169550 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fingers, Decreas... |
OMIM:612394 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac... |
OMIM:105830 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Short neck, Micrognathia, Shoulder dislocation, Prominent antitragus, Dislocated radial head, Mic... |
OMIM:245600 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Olig... |
OMIM:612289 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
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Rocker bottom foot, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb under... |
ORPHA:453510 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Ptosis, Anteverted nares, Cleft soft palate, Highly arched eyebrow, Micrognathia, Wide nasal brid... |
ORPHA:2282 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Prominent nose, Micrognathia, Synophrys, Protruding ear, High palate, Wide... |
OMIM:612474 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, 4-5 toe syndactyly, 2-3 toe cutaneous syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly |
ORPHA:508542 |
Fraser Syndrome |
|
Cleft ala nasi, Anophthalmia, Dental crowding, Orofacial cleft, Malformed lacrimal duct, High pal... |
ORPHA:2052 |
Fryns Syndrome |
|
Tented upper lip vermilion, Microretrognathia, Anteverted nares, Cleft upper lip, Esophageal atre... |
OMIM:229850 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Cataract, Esophageal stenosis, Hypermelanotic macule, Malabsorption,... |
ORPHA:1775 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i... |
OMIM:620114 |
Holoprosencephaly 4 |
|
Median cleft lip and palate, Depressed nasal bridge, Median cleft lip, Absent nasal septal cartil... |
OMIM:142946 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h... |
ORPHA:52427 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Chitayat Syndrome |
|
Hallux valgus, Brachydactyly |
OMIM:617180 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Joubert Syndrome 15 |
|
Retinopathy, Coloboma, Retinal dystrophy, Exencephaly |
OMIM:614464 |
Tarp Syndrome |
|
Finger syndactyly, Broad-based gait, Single transverse palmar crease, Rocker bottom foot, Postaxi... |
ORPHA:2886 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Limited wrist movement, Abnormal thumb m... |
ORPHA:67036 |
Wolfram Syndrome 1 |
|
Cataract, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Ptosis |
OMIM:222300 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Bone spicule pigmentation of the retina, Ataxia, Postaxial polydactyly, Postaxial han... |
OMIM:209900 |
Osteogenesis Imperfecta, Type Xxi |
|
Bowing of the legs, Coxa valga, Coxa vara, Platyspondyly, Scoliosis, Bowing of the arm |
OMIM:619131 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Protruding ear, Low-set ears, Short palm, Retr... |
ORPHA:73246 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology |
ORPHA:261272 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Micrognathia, Hydrocephalus, Brachydactyly |
ORPHA:2075 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Ollier Disease |
|
Platyspondyly, Abnormal metaphysis morphology, Micromelia |
ORPHA:296 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Micrognathia, Short toe, Limb undergrowth, Umbilical hernia, Short phalanx of finger |
OMIM:225410 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Anteverted na... |
ORPHA:175 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Micrognathia, Short metatarsal, Cubitus valgus, Short 4th metacarpal, Muscle hyper... |
ORPHA:1772 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Prominent nose, Flat acetabular roof, Genu valgum, Abnormal mandible condylar process morphology,... |
ORPHA:2976 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th... |
ORPHA:1305 |
Alg8-Cdg |
|
Brachydactyly, Ataxia, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
Joubert Syndrome 17 |
|
Ataxia, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Distal Deletion 19P |
|
Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Hypoplasia of the maxilla, Sensorine... |
ORPHA:96129 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Brachydactyly |
OMIM:614592 |
Cln3 Disease |
|
Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy |
ORPHA:228346 |
Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
Rhyns Syndrome |
|
Short long bone, Radial bowing, Short femoral neck, Brachydactyly |
OMIM:602152 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Achondrogenesis |
|
Umbilical hernia, Micromelia, Micrognathia |
ORPHA:932 |
Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Abnormal soft... |
ORPHA:884 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Micrognathia, Brachydactyly |
OMIM:620156 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Micrognathia, Pigmentary retinopathy, High palate, Abnormality of globe size, ... |
ORPHA:502423 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ... |
ORPHA:319675 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Micrognathia, Camptodactyly of finger, Bilateral single transverse palmar creases |
ORPHA:2083 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ... |
OMIM:616894 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Heimler Syndrome 1 |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Macular dystrophy, Enamel ... |
OMIM:234580 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Abnormal pupil morph... |
ORPHA:261552 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secon... |
OMIM:269500 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate |
OMIM:257910 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment |
ORPHA:141 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Clinodactyly of the 5th finger, Cubitus valgus, Hypopigmentation of the skin, ... |
OMIM:620237 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm |
ORPHA:238750 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Unsteady gait, Ataxia |
ORPHA:1942 |
Thauvin-Robinet-Faivre Syndrome |
|
Epicanthus, Sensorineural hearing impairment, Protruding ear, Macroglossia, Coloboma, Retinal col... |
OMIM:617107 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Protruding ear, High palate, Simple ear, Anteverted nares, Depressed nas... |
OMIM:619325 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Umbilical hernia, Brachydactyly |
ORPHA:3218 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Micrognathia, Brachydactyly |
OMIM:618265 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi... |
OMIM:619227 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductiv... |
OMIM:164210 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Palmoplantar cutis laxa, Hydr... |
OMIM:616482 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coloboma, Abnormality of dental color, Corneal opacity, Hypopigmentation of the skin |
OMIM:163200 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Wide nasal bridge, Cl... |
OMIM:614083 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Radio-Tartaglia Syndrome |
|
Pes planus, Ataxia, Micrognathia, Tapered finger, Gait imbalance, Pes cavus, Brachydactyly |
OMIM:619312 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f... |
OMIM:600987 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Hypopigmented skin patches, Coxa vara, Multiple cafe-au-lait spots, Narrow pelvis bon... |
ORPHA:2637 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Micrognathia, Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Cerebellar dysplasia |
OMIM:601374 |
Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Retinal dystrophy |
OMIM:614465 |
Restrictive Dermopathy 1 |
|
Natal tooth, Entropion, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, Sparse eyela... |
OMIM:275210 |
Aural Atresia, Congenital |
|
Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Spina bifida occulta, En... |
ORPHA:2911 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Ataxia, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe,... |
ORPHA:2750 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Epicanthus, Cleft soft... |
OMIM:614557 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Micrognathia, Paresthesia, Hyperpigmented nevi, Short distal phalanx of finger,... |
ORPHA:2959 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Rhizomelia, Brachydactyly |
ORPHA:2645 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Camptodactyly of toe, Conductive hearing impairment, Dislocated radial ... |
OMIM:265000 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Single transverse palmar crease, S... |
OMIM:305450 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hip dislocation, Macroglossia, Pigmentary retinopathy, Open mouth |
OMIM:613156 |
Eec Syndrome |
|
Entropion, Carious teeth, Choanal atresia, Abnormal dental enamel morphology, Keratitis, External... |
ORPHA:1896 |
Proteus Syndrome |
|
Central heterochromia, Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of t... |
ORPHA:744 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Dahlberg-Borer-Newcomer Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:1563 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Synophrys, Abnormality of the ear, Downturned corners of mouth, Short phil... |
ORPHA:3455 |
Unilateral Ocular Duplication |
|
Encephalocele, Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Cleft pa... |
ORPHA:3374 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Freckling, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic... |
OMIM:610651 |
Microtia-Anotia |
|
Holoprosencephaly, Anotia, Microtia |
OMIM:600674 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Clinodactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Poly... |
OMIM:311200 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
Cowden Syndrome |
|
Ataxia, Abnormal cerebellum morphology, Hypopigmented skin patches, Melanocytic nevus, Palmoplant... |
ORPHA:201 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of the dentition, Gingivitis, Pigmentary retinopathy, Otitis... |
OMIM:203800 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Slender long bone, Microtia, Low-set ears |
OMIM:613804 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Leigh Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, Ptosis |
OMIM:256000 |
Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... |
ORPHA:3194 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Micrognathia, Depressed nasal ridge, Pigmentary retinopathy, High palate, Distichiasis |
OMIM:600462 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
W Syndrome |
|
Telecanthus, Depressed nasal bridge, Broad nasal tip, Elbow dislocation, Submucous cleft hard pal... |
ORPHA:2804 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth,... |
ORPHA:2152 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Flared metaphys... |
OMIM:615349 |
Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Micrognathia, Prominent nose, Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi... |
ORPHA:261537 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Telecanthus, Sparse eyelashes, Choanal atresia, Underdeveloped nasal alae, Sparse ey... |
ORPHA:2108 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Talipes, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the... |
ORPHA:1234 |
Chand Syndrome |
|
Short fifth metatarsal, Ataxia |
ORPHA:1401 |
Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Micromelia, Micrognathia, ... |
OMIM:613848 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Natal tooth, Occipital encephalocele, Thin upper lip vermilion, Camptodactyly of... |
OMIM:249000 |
Amish Lethal Microcephaly |
|
Optic atrophy, Cleft soft palate, Spina bifida, Micrognathia |
ORPHA:99742 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Delayed eruption of teeth, Cataract, Conical tooth, ... |
OMIM:308300 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Arachnodactyly, Long palm, Tapered finger, Camptodac... |
ORPHA:2215 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, Clinodactyly of t... |
ORPHA:1292 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Myelomeningocele, Deep palmar crease, Brachydactyly |
ORPHA:1752 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal nostril morphology, Anal atresia, Narrow mouth |
ORPHA:3469 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Chorioretinitis, Odontogenic keratocysts of the jaw, Coloboma |
ORPHA:199276 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... |
ORPHA:536471 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Peripheral retinal avascularization, Tented upper lip vermilion, Micrognat... |
ORPHA:96334 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Aplasia/Hypoplasia of the pa... |
OMIM:613803 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Short phalanx of finger |
OMIM:208060 |
Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Impaired pain sensation, Gait disturbance... |
ORPHA:870 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Tal... |
OMIM:224410 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hydrocephalus, Hemivertebrae, Umbilical hernia, Low-set e... |
OMIM:104350 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Concave nasal ridge, ... |
OMIM:602482 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... |
ORPHA:261323 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... |
ORPHA:1873 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Anteverted nares, Tarsal synostosis, Posteriorly rotated ears, Conductiv... |
OMIM:157800 |
Diamond-Blackfan Anemia 7 |
|
Choanal atresia, Cleft palate, Atresia of the external auditory canal, Esophagitis, Recurrent oti... |
OMIM:612562 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Thick eyebrow, Hooded eyelid, Prominent nose, Micrognathia, Sensori... |
OMIM:618971 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... |
OMIM:268315 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Coronal cle... |
OMIM:620076 |
Rin2 Syndrome |
|
Pes planus, Umbilical hernia, Brachydactyly |
ORPHA:217335 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Lim... |
OMIM:166210 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormal intervertebral disk morphology |
ORPHA:1345 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Wide nose, Cataract, Spina bifida, Micrognathia, Absent eyelashes, Swollen lip, Macro... |
OMIM:256520 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, White... |
ORPHA:79432 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Patellar dislocation... |
ORPHA:2916 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Micrognathia, Pigmentary retinopathy, High palate, Hearing impairment |
OMIM:617675 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r... |
ORPHA:2021 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of... |
OMIM:122880 |
Neuromuscular Oculoauditory Syndrome |
|
Epicanthus, Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretinal lacunae,... |
OMIM:618733 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Kyphosis, Hydrocephalus, Platyspondyly, Narrow iliac wing, Dentinogenesis impe... |
OMIM:616294 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Micromelia, Short palm, Hyperpigmentation of the skin, Brachydactyly |
ORPHA:2176 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Ataxia, Brachydactyly |
OMIM:616954 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Clinodactyly, Hydrocephalus |
ORPHA:2169 |
Joubert Syndrome 28 |
|
Optic disc pallor, Wide nasal bridge, Pigmentary retinopathy, Highly arched eyebrow |
OMIM:617121 |
Aredyld Syndrome |
|
Abnormal pelvic girdle bone morphology, Brachydactyly |
ORPHA:1133 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Prominent nose, Micrognathia, Deep philtrum, Protruding... |
OMIM:150230 |
Ramon Syndrome |
|
Delayed eruption of teeth, Optic disc pallor, Gingival fibromatosis, Narrow palate, Pigmentary re... |
OMIM:266270 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, T... |
ORPHA:466768 |
Toriello-Carey Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the cerebellum, Clinodactyly, Dandy-Walker malformation, Brac... |
ORPHA:3338 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Platyspondyly, Posterior scalloping of vertebral bodies, Hip dysplasi... |
OMIM:619698 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy, Ptosis |
OMIM:252011 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Prominent nose, Micrognathia, Synophrys, Multiple joint d... |
OMIM:619503 |
Tetraamelia Syndrome 1 |
|
Cataract, Choanal atresia, Micrognathia, Cleft upper lip, Hydrocephalus, Single naris, Cleft pala... |
OMIM:273395 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Medial flaring of the eyebrow, Prominent nasal bridge, Pigment... |
ORPHA:110 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, Pes valgus, Brachydactyly |
OMIM:619995 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Increased carrying angle, Brachydactyly |
OMIM:247410 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cleft palate, Glossop... |
ORPHA:1393 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Entropion, Anteverted nares, Dental crowding, Broad nasal tip, Hypoplasia ... |
OMIM:617402 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Increased interve... |
OMIM:607944 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Hydrocepha... |
OMIM:618476 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Retinal detachment, Keratoconus, Congenital hip dislocation, Depressed nasal b... |
OMIM:225400 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ear, Submuco... |
ORPHA:3426 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the ver... |
ORPHA:354 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Hiatus hernia, Micrognathia, Hip dislocation, High palate, Low-set ears, Narrow mouth... |
OMIM:617729 |
Native American Myopathy |
|
Micrognathia, Conductive hearing impairment, Bilateral ptosis, Cleft palate, Downturned corners o... |
ORPHA:168572 |
Prader-Willi Syndrome |
|
Syndactyly, Hypopigmentation of hair, Impaired pain sensation, Acromicria, Small hand, Narrow pal... |
OMIM:176270 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, He... |
ORPHA:636 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly |
ORPHA:1318 |
Mgat2-Cdg |
|
Cerebellar hypoplasia, Brachydactyly |
ORPHA:79329 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal |
OMIM:209770 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Ectopia lentis, Micrognathia, High, narrow palate, Wide nasal bridge, Low-set ears,... |
ORPHA:284979 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Knee flexion contracture, Downturned corners of mouth, High... |
OMIM:259050 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Abnormal dental enamel morphology, Abnormality of the hand, Camp... |
ORPHA:2273 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Ayme-Gripp Syndrome |
|
Tapered finger, Chiari type I malformation, Radioulnar synostosis, Camptodactyly, Brachydactyly |
OMIM:601088 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Low-set, posteriorly ... |
ORPHA:800 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Enlarged joints, Persistence of primary teeth, Long nose, Broad nasal tip, L... |
ORPHA:2044 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Micrognathia, Absent thumb, Hypoplasia of the radius, Brachydactyly |
ORPHA:96097 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Sensorineural hearing impairment, Conjunctivitis |
OMIM:242150 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem... |
OMIM:610759 |
Prader-Willi Syndrome Due To Translocation |
|
Pes planus, Hypopigmentation of hair, Overlapping toe, Iris hypopigmentation, Micrognathia, Small... |
ORPHA:177907 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Short middle phalanx of the 2nd finger, Ab... |
OMIM:119600 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Hypermelanotic macule, Broad palm, Clinodactyly of the 5th finger, Cafe-au-lait spot |
OMIM:618505 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Smooth philtrum, Cataract, Depressed nasal bridge, Craniosynostosis, Micrognathia, Microdontia, D... |
OMIM:620005 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Bruck Syndrome 2 |
|
Platyspondyly, Elbow flexion contracture, Talipes equinovarus, Femoral bowing |
OMIM:609220 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cataract, Peters anomaly, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmo... |
OMIM:613150 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Depressed nasal bridge, Broad nasal tip, Cleft lip, Cupped ear, Narrow palate, Depres... |
OMIM:618223 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Conductive hearing im... |
OMIM:194190 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Alagille Syndrome 1 |
|
Cataract, Depressed nasal bridge, Band keratopathy, Long nose, Bulbous nose, Macrotia, Chorioreti... |
OMIM:118450 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Woolly Hair |
|
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars... |
ORPHA:170 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Abnormal he... |
ORPHA:158687 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti... |
OMIM:267750 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal nasolacrimal system morphology, Choanal atresia, Facial palsy, Ab... |
ORPHA:2658 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Micrognathia, Aplasia/Hypoplasia of th... |
ORPHA:1225 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus |
ORPHA:397951 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Ataxia, Brachydactyly |
ORPHA:168577 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Premature graying of hair, White forelock, Neoplas... |
ORPHA:902 |
Gm1 Gangliosidosis Type 1 |
|
Broad long bone diaphyses, Hypoplastic vertebral bodies, Platyspondyly, Flared iliac wing, Short ... |
ORPHA:79255 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Atresia of the exte... |
OMIM:617666 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to... |
ORPHA:3255 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Single transverse palmar crease, Short ne... |
OMIM:148050 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middl... |
OMIM:136140 |
Hypophosphatasia, Infantile |
|
Micromelia, Bowing of the legs, Vertebral clefting, Platyspondyly, Unossified vertebral bodies, M... |
OMIM:241500 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... |
ORPHA:3404 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Micrognathia, Cleft upper lip, Cleft palate, Distichiasis, Conjunctivitis, Recurrent c... |
OMIM:153400 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... |
OMIM:604757 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Dental crowding, Ectopia lenti... |
ORPHA:394 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Umbilical hernia, Brachydactyly |
OMIM:616028 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Camptodactyly of finger, Abnormal nasolacrimal system morphology, Promi... |
ORPHA:3047 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Camptodactyly, Limb undergrowth, Long hallux |
ORPHA:79322 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd... |
ORPHA:3015 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Bifid uvu... |
ORPHA:500150 |
Müllerian Aplasia And Hyperandrogenism |
|
Cubitus valgus, Brachydactyly |
ORPHA:247768 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Hypoplasia ... |
OMIM:619321 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia |
ORPHA:2772 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adduct... |
OMIM:227330 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Absent frontal sinuses, Anosmia, Abnormal cornea mo... |
OMIM:244400 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Con... |
OMIM:278730 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Entropion, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... |
OMIM:615113 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Brachydactyly, Short long bone, Short palm |
OMIM:619184 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina |
ORPHA:100996 |
Pycnodysostosis |
|
Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolytic defects of the distal phalang... |
OMIM:265800 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, Short clavic... |
ORPHA:313855 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Cataract, Pigmentary reti... |
ORPHA:88628 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chronic ... |
ORPHA:1507 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr... |
OMIM:619472 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia, Ptosis |
ORPHA:466722 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Gorham-Stout Disease |
|
Abnormality of the temporomandibular joint, Abnormal facial skeleton morphology, Abnormal ethmoid... |
ORPHA:73 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb... |
OMIM:230600 |
Marden-Walker Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Pyloric stenosis, Hydrocephalus,... |
ORPHA:2461 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, High palate, Ptosis |
OMIM:220110 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Abnormal 5th finger morphology, Microtia, Symphalangism of the ... |
ORPHA:1439 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Micrognathia, Aplasia... |
OMIM:151050 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3217 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran... |
OMIM:303600 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Retinal degeneration |
ORPHA:542306 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Ablepharon-Macrostomia Syndrome |
|
Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly... |
OMIM:200110 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Adducted thumb, Micromelia, Bilateral single transverse palmar creases |
ORPHA:50810 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Polydactyly |
OMIM:619869 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... |
OMIM:610442 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Micrognathia, Recurrent upper respiratory tract infections, Coloboma, Protein-losing enteropathy,... |
OMIM:618183 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ptosis, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas, Hearing impairment |
OMIM:560000 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormality of skin pigmentation, Palmoplantar kerato... |
ORPHA:2908 |
Degcags Syndrome |
|
Prominent nose, Micrognathia, Synophrys, Abnormality of skin pigmentation, Premature graying of h... |
OMIM:619488 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Single transverse palmar crease, Short thumb, Clinodactyly, ... |
ORPHA:1708 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Esophageal Atresia |
|
Barrett esophagus, Choanal atresia, Intestinal malrotation, Hearing impairment, Pyloric stenosis,... |
ORPHA:1199 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormal pupi... |
ORPHA:286 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Single transverse palmar crease |
ORPHA:79243 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,... |
OMIM:610168 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Downturned corners of mouth, Small earlobe, Genu varum, Absent eyebrow, Anteverted ... |
OMIM:264090 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait ... |
ORPHA:1969 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Proximal placement of thum... |
OMIM:122470 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Short foot, Cl... |
ORPHA:1974 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Trichinellosis |
|
Facial palsy, Trismus, Vertigo, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria,... |
ORPHA:863 |
Cinca Syndrome |
|
Brachydactyly |
ORPHA:1451 |
Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel... |
OMIM:257980 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Brachydactyly |
OMIM:608624 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Micrognathia, Tapered finger, Long fingers, Sensori... |
OMIM:611174 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormal... |
ORPHA:79282 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Hydrocephalus, Optic atrophy, Macro... |
ORPHA:505248 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Cleft maxillary alveolar ridge, Spina bifida occulta,... |
ORPHA:508488 |
Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Chorea, Elbow flexion con... |
OMIM:619777 |
Fibrous Dysplasia Of Bone |
|
Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal mandible morpho... |
ORPHA:249 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Bowing of the legs, Aplasia/Hypoplasia of the patella, Preaxial hand polyd... |
OMIM:617063 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Kleefstra Syndrome 1 |
|
Talipes equinovarus, Single transverse palmar crease, Brachydactyly |
OMIM:610253 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Toe clinodactyly, Clinodactyly of ... |
ORPHA:217346 |
White-Sutton Syndrome |
|
Waddling gait, Micrognathia, Broad thumb, Broad foot, Hypoplastic cervical vertebrae, Brachydactyly |
OMIM:616364 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Umbilical hernia, Clinodactyly of the 5th f... |
OMIM:304110 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micromelia, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus, Preaxial polydactyly, Anence... |
OMIM:616546 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
Glutamine Deficiency, Congenital |
|
Micromelia, Camptodactyly |
OMIM:610015 |
Bencze Syndrome |
|
Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Depressed nasal bridge, Sparse eyelashes, Abnormal o... |
OMIM:305100 |
Williams Syndrome |
|
Micrognathia, Rectal prolapse, Protruding ear, Chronic otitis media, Microdontia, Megalocornea, S... |
ORPHA:904 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cataract |
OMIM:618805 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Delayed eruption of primary teeth, Lacrimal duct atresia, Hyperpigmented streaks, M... |
OMIM:300952 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
Desmoid Tumor |
|
Intestinal polyposis, Abnormality of retinal pigmentation, Intestinal obstruction, Malabsorption |
ORPHA:873 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Brachydactyly |
ORPHA:457193 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Spondyloocular Syndrome |
|
Long toe, Posteriorly rotated ears, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers... |
OMIM:605822 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Epicanthus, Highly arched eyebrow, Anisocoria, Anteriorly placed anus, Narrow pa... |
OMIM:618653 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Tented upper lip vermilion, Thin upper lip vermilion |
OMIM:619517 |
Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Ab... |
OMIM:618050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae... |
OMIM:613154 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Cataract, Intestinal pseudo-obstruction, Retinal pigment epithelial... |
OMIM:607459 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia, Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Occipital encephalocele, Abnormal intervert... |
ORPHA:887 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Brachydactyly, Posteriorly rotate... |
ORPHA:97360 |
Macs Syndrome |
|
Pes planus, Single transverse palmar crease, Micrognathia, Umbilical hernia, Brachydactyly |
OMIM:613075 |
Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition |
OMIM:183400 |
Kabuki Syndrome 2 |
|
Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachydactyly |
OMIM:300867 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis |
OMIM:615220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Hip dislocation |
OMIM:619059 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Weill-Marchesani Syndrome 4 |
|
Brachydactyly |
OMIM:613195 |
Raine Syndrome |
|
Bowing of the long bones, Micromelia, Micrognathia, Hydrocephalus, Long hallux, Brachydactyly |
OMIM:259775 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Volvulus, Gingival bleeding, Developmental cataract |
ORPHA:335 |
Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Single transverse palmar crease, Ataxia, Micrognathia, Clinodactyly of the 5th fing... |
OMIM:617062 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, L... |
OMIM:613001 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Keratoconus, Epicanthus, Malabsorption, Elbow dislocation, Decreased nerve con... |
ORPHA:285 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,... |
ORPHA:1855 |
Distal Deletion 9P |
|
Brachydactyly |
ORPHA:1642 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... |
ORPHA:3352 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Fibrous syngnathia, Scoliosis |
ORPHA:1300 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Later... |
OMIM:242900 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epicanthus, Micrognathia, Synophrys, Abnormality of dermal melanosomes, Dental malocclusion, Wide... |
ORPHA:73223 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Micro... |
ORPHA:2636 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short neck, Abnorma... |
ORPHA:1830 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Umbilical hernia |
OMIM:614520 |
Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Generalized hyperpigmentation, Short palm |
ORPHA:3339 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Pes planus, Hypermobility of toe joints, Micrognathia, Numerous congenital melanocytic nevi, Shor... |
ORPHA:99413 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly |
OMIM:601353 |
Mosaic Monosomy X |
|
Pes planus, Hypermobility of toe joints, Micrognathia, Numerous congenital melanocytic nevi, Shor... |
ORPHA:99228 |
Monosomy X |
|
Pes planus, Hypermobility of toe joints, Micrognathia, Numerous congenital melanocytic nevi, Shor... |
ORPHA:99226 |
Turner Syndrome |
|
Pes planus, Hypermobility of toe joints, Micrognathia, Numerous congenital melanocytic nevi, Shor... |
ORPHA:881 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part... |
OMIM:617660 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Tongue atrophy, Sensorineural hearing impairment, Opti... |
ORPHA:99949 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hearing abnormality, Symphalangism affe... |
ORPHA:2990 |
Fraser Syndrome 3 |
|
Short toe, Micrognathia, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esoph... |
OMIM:301068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia |
OMIM:616538 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Developmental... |
ORPHA:93325 |
Holoprosencephaly 1 |
|
Proboscis, Alobar holoprosencephaly, Aplasia of the nose, Microphthalmia, Cyclopia, Ethmocephaly,... |
OMIM:236100 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Orthostatic Hypotension 1 |
|
Brachydactyly |
OMIM:223360 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Coxa ... |
ORPHA:3107 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Micrognathia, Lower limb asymmetry, Clinodactyly of... |
ORPHA:96182 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... |
ORPHA:2211 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Long foot, Broad 2nd toe, Palmoplantar hyperkeratosis, Gait ataxia, Large hands... |
OMIM:280000 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Retinal vein occlusion, Pseud... |
OMIM:177650 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, Long eyelashes, High palate... |
OMIM:612292 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Melanocytic nevus, Split foot, Freckling |
ORPHA:978 |
Fanconi Anemia, Complementation Group G |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:614082 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
Dominant Beta-Thalassemia |
|
Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Genu valgum, Upslanted pa... |
ORPHA:231226 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy, Cataract |
ORPHA:79095 |
Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing... |
ORPHA:404448 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Levator palpebrae ... |
ORPHA:45358 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Small... |
OMIM:180700 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Knee flexion contracture |
ORPHA:3208 |
Timothy Syndrome |
|
Cutaneous syndactyly |
OMIM:601005 |
Bloom Syndrome |
|
Syndactyly, Spotty hypopigmentation, Hand polydactyly, Clinodactyly of the 5th finger, Cafe-au-la... |
OMIM:210900 |
Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Brushfield spots, Broad palm... |
OMIM:190685 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Hearing impairment, Prominent nose, Anisocoria, Dow... |
OMIM:615510 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Single transverse palmar crease, Branchial anomaly, Pes valgus, Short palm, Prominent... |
ORPHA:466950 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Neurooculorenal Syndrome |
|
Iris atrophy, Mixed hearing impairment, Intestinal malrotation, Highly arched eyebrow, Micrognath... |
OMIM:620305 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hydrocephalus, Pigmentary retinopathy, Low-set ears, Macrotia, Smooth philtrum |
OMIM:277400 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Cataract, Blepharophimosis, External ear malformation, Anteriorly placed a... |
ORPHA:857 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy, Bilateral sensorineural hearing impairment, Ptosis |
ORPHA:436271 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneou... |
OMIM:620029 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus... |
OMIM:606170 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Ptosis |
OMIM:530000 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Communicating hydrocephalus, Mixed hearing impairment, Short neck, Sensori... |
ORPHA:309282 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad femoral neck,... |
ORPHA:488434 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Communicating hydrocephalus, Dev... |
ORPHA:2119 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Depressed nasal ridge, Holoprosencephaly, Median c... |
ORPHA:95494 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormality of the tongue, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Telecanthus, Entropion, Choanal atresia, Camp... |
ORPHA:1662 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Corneal ulceration, Steatorrhea,... |
ORPHA:14 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd... |
ORPHA:373 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re... |
OMIM:617023 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Fat malabsorption, Rod-c... |
ORPHA:96180 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Cleft ... |
ORPHA:790 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal pinna morphology, Micrognathia, Anencephaly, Cleft palate, Stillbirth,... |
OMIM:236680 |
Fanconi Anemia, Complementation Group F |
|
Microtia, Conductive hearing impairment, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of ... |
OMIM:603467 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Cataract, Narrow nasal ridge, Developmental cataract, Pigmentary retinop... |
OMIM:606721 |
Maternal Phenylketonuria |
|
Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb |
ORPHA:2209 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge |
ORPHA:2835 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia |
OMIM:611134 |
Beta-Thalassemia Major |
|
Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Genu valgum, Upslanted pa... |
ORPHA:231214 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... |
OMIM:619727 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Decreased nerve conduct... |
ORPHA:167 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Hypoplasia of the zygomatic bone, Wide nose, Anteverted nares, Long philtrum |
ORPHA:3074 |
Pearson Syndrome |
|
Ptosis, Cataract, Hearing impairment, Corneal stromal edema, Pigmentary retinopathy, Steatorrhea,... |
ORPHA:699 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Bilateral microphthalmos, Wide nasal bridge, Neonatal death, Low-set ... |
OMIM:601186 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Coxa v... |
OMIM:614976 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Abnormal pupil morphology, Sensorineural hearing impairment,... |
ORPHA:90658 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Abnormality of th... |
ORPHA:1556 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Hip di... |
OMIM:182250 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Tapered finger, Abnormal toe morphology, Micro... |
DECIPHER:81 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Low-set ears, Duodenal stenosis |
ORPHA:2470 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Downslanted palpebral fissures, Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Ro... |
OMIM:192445 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia |
OMIM:603194 |
Linear Nevus Sebaceus Syndrome |
|
Telecanthus, Genu recurvatum, Melanocytic nevus, Microphthalmia, Irregular hyperpigmentation, Iri... |
ORPHA:2612 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Hydrocephalus, Polycoria, Retinal hemorrhage, Dev... |
OMIM:175780 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia |
OMIM:611561 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Pain insensitivity, Cerebellar vermis hypoplasia, Sandal gap, Broad-based... |
OMIM:620330 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... |
OMIM:259770 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly |
ORPHA:847 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Pgm3-Cdg |
|
Decreased/absent ankle reflexes, Ataxia, Brachydactyly |
ORPHA:443811 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Dental crowding, Prominent nose, High, narrow palate, Narrow mouth, Upslante... |
OMIM:300967 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly |
ORPHA:488632 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Abnormality of skin pigmentation, L... |
OMIM:227646 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Abnormality of retinal pigmentation, Craniosynostosis |
ORPHA:1496 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Micrognathia, Patchy hypo- and hyperpigmentation, Developmen... |
ORPHA:79474 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Apla... |
ORPHA:1521 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Coloboma |
ORPHA:47159 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Congenital hip dislocation, Lagophthalmos, Bilateral ... |
ORPHA:404454 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Tapered finger, Micrognathia, Small hand, Short foot, Camptodactyly, Clinodactyl... |
OMIM:309590 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Hypopigmented skin patches, Palmoplantar hyperkeratos... |
ORPHA:2907 |
Familial Dysautonomia |
|
Orthostatic hypotension, Corneal opacity, Corneal erosion, Abnormal pupil morphology, Optic atrop... |
ORPHA:1764 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Pes planus, Talipes, Spina bifida, Missi... |
ORPHA:2308 |
Noonan Syndrome |
|
Micrognathia, Melanocytic nevus, Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydac... |
ORPHA:648 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran... |
ORPHA:91500 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Brachydactyly |
ORPHA:466943 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Single transverse palmar crease, Short neck... |
ORPHA:96123 |
Faciocardiomelic Syndrome |
|
Telecanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Hyperpl... |
OMIM:612731 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ... |
ORPHA:3474 |
Chops Syndrome |
|
Brachydactyly |
OMIM:616368 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Meester-Loeys Syndrome |
|
Pes planus, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Umbilical hernia, Brac... |
OMIM:300989 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Limb undergrowth, Clinodactyly |
OMIM:616541 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Micrognathia, Postaxial hand polydactyly, Polydactyly, Short ribs, Mesome... |
OMIM:613610 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate |
OMIM:619053 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... |
OMIM:617088 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Coronal cleft vertebrae, Talipes equinovarus... |
OMIM:620025 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Optic atrophy, Unilateral microphthalmos |
OMIM:615085 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Brachydactyly |
ORPHA:1519 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... |
OMIM:601803 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Delayed closure of the anterior fontanelle, Developmental cataract, Retinal calcific... |
OMIM:127000 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Limb undergrowth, Hip dislocation |
OMIM:618005 |
Developmental And Epileptic Encephalopathy 89 |
|
Limb undergrowth, Microretrognathia, Talipes equinovarus |
OMIM:619124 |
Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:609054 |
Melas |
|
Intestinal pseudo-obstruction, Sensorineural hearing impairment, Optic atrophy, Pigmentary retino... |
ORPHA:550 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Retrognathia, Abnormality iris morphology |
ORPHA:91387 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Depressed nasal bridge, Anteverted nares, Aqueductal stenosis, Hydrocephalus, Esophageal varix, P... |
OMIM:619534 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Iridocorneal Endothelial Syndrome |
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Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Aceruloplasminemia |
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Blepharospasm, Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Cone-Rod Dystrophy 2 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Joubert Syndrome 8 |
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Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy, Ptosis |
OMIM:612291 |
Fanconi Anemia, Complementation Group R |
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Microphthalmia, Hydrocephalus, Anal atresia, Agenesis of permanent teeth |
OMIM:617244 |
Pyknoachondrogenesis |
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Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas... |
ORPHA:3003 |
Manitoba Oculotrichoanal Syndrome |
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Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Nasolacrimal duct obstruction, Ant... |
OMIM:248450 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
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Blepharospasm, Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Tooth Agenesis, Selective, 4 |
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Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ... |
OMIM:150400 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
Oculotrichoanal Syndrome |
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Anal stenosis, Anophthalmia, Bifid nasal tip, Upper eyelid coloboma, Nasolacrimal duct obstructio... |
ORPHA:2717 |
Mckusick-Kaufman Syndrome |
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Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P... |
OMIM:236700 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Ocular albinism, Short foot, Hip... |
ORPHA:1606 |
Peters Plus Syndrome |
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Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Hydrocephalus, Short foot, Clino... |
ORPHA:709 |
Slc39A8-Cdg |
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Limb undergrowth, Cutaneous syndactyly of toes, Elbow flexion contracture |
ORPHA:468699 |
Kinsship Syndrome |
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Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, P... |
OMIM:619297 |
Phakomatosis Pigmentokeratotica |
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Coloboma, Spina bifida, Melanocytic nevus |
ORPHA:2874 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Keratoconus |
OMIM:609438 |
Retinitis Pigmentosa 58 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Trichothiodystrophy 2, Photosensitive |
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Agenesis of maxillary lateral incisor |
OMIM:616390 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Conical incisor |
OMIM:300291 |
Microcephaly 20, Primary, Autosomal Recessive |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Septopreoptic Holoprosencephaly |
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Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Revesz Syndrome |
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Leukocoria, Fine, reticulate skin pigmentation, Exudative retinopathy, Megalocornea, Oral leukopl... |
OMIM:268130 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Hip subluxation, Bra... |
ORPHA:444077 |
Fanconi Anemia, Complementation Group C |
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Epicanthus, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Hearing impairment |
OMIM:227645 |
Leukocyte Adhesion Deficiency Type Ii |
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Limb undergrowth, Umbilical hernia, Overlapping toe, Broad palm |
ORPHA:99843 |
Stüve-Wiedemann Syndrome |
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Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio... |
ORPHA:3206 |
Occipital Horn Syndrome |
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Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis, Genu valgum, ... |
OMIM:304150 |
Infantile Nephropathic Cystinosis |
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Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the dentition |
ORPHA:2235 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus, Narrow nasal ridge, Thin vermilion border, Periodontitis, Premature loss of teeth, A... |
OMIM:130050 |
Collagenoma, Familial Cutaneous |
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Iris atrophy, Sensorineural hearing impairment |
OMIM:115250 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Abnormal pelvic girdle bone morphology, Platyspondyly, Sinusitis, Growth arrest lines |
OMIM:102700 |
Retinitis Pigmentosa 49 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Pantothenate Kinase-Associated Neurodegeneration |
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Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... |
ORPHA:157850 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Hearing impairment |
OMIM:600901 |
Hennekam Syndrome |
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Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, External ear malformation,... |
ORPHA:2136 |
Incisors, Lower Central, Absence Of |
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Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
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Agenesis of central incisor |
OMIM:302400 |
Fanconi Anemia, Complementation Group A |
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Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot, Hearing impairment |
OMIM:227650 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Pigmentary retinopathy, Sensorineural hearing impairment, Rod-cone dystrophy, Optic atrophy |
ORPHA:255210 |
Semilobar Holoprosencephaly |
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Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid... |
ORPHA:93924 |
Acrocephalopolydactylous Dysplasia |
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Postaxial hand polydactyly, Micromelia |
OMIM:200995 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Genu valgum, Platyspondyly, F... |
OMIM:309000 |
Osteogenesis Imperfecta, Type Vii |
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Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... |
OMIM:610682 |
Osteogenesis Imperfecta |
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Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Micrognathia, Fractures of... |
ORPHA:666 |
Noonan Syndrome 1 |
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Micrognathia, Radial deviation of finger, Cubitus valgus, Clinodactyly, Cafe-au-lait spot, Brachy... |
OMIM:163950 |
Cone-Rod Dystrophy 10 |
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Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Cystinosis, Nephropathic |
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Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Genu... |
OMIM:219800 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Pes planus, Tapered finger, Micrognathia, Talipes calcaneovalgus, Genu valgum, Talipes equinovaru... |
OMIM:309580 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
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Ankle clonus, Talipes valgus, Submucous cleft hard palate, Narrow nose |
OMIM:618891 |
Retinitis Pigmentosa 45 |
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Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Pigmentary retinopathy |
OMIM:609015 |
Bifid Uvula |
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Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Mitochondrial Trifunctional Protein Deficiency |
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Pigmentary retinopathy |
ORPHA:746 |
Chromosome 14Q11-Q22 Deletion Syndrome |
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Micrognathia, Hip subluxation, Mesomelia |
OMIM:613457 |
Coats Disease |
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Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Pigmentary retinopathy |
ORPHA:71212 |
Cone-Rod Dystrophy 6 |
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Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Impaired pain sensation, Brachydactyly |
ORPHA:293987 |
Multiple System Atrophy 1, Susceptibility To |
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Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:146500 |
Retinoblastoma |
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Vitritis, Leukocoria, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
C Syndrome |
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Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo... |
ORPHA:1308 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Epiphyseal dysplasia, Deep palmar crease, Micromelia |
ORPHA:1675 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
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Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Aspartylglucosaminuria |
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Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verteb... |
OMIM:208400 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial... |
ORPHA:93271 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Eyelid apraxia, Hyperpigmentation of the skin, Optic atrophy, Blepharospasm, Pigmentary retinopat... |
OMIM:234200 |
Night Blindness, Congenital Stationary, Type 1B |
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Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Pmm2-Cdg |
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Mandibular prognathia, Abnormal pinna morphology, Kyphoscoliosis, Long fingers, Macrotia, Platysp... |
ORPHA:79318 |