| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microphthalmia, Microcephaly, Brachydactyly |
OMIM:233270 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Thick corpus callosum, Macrocephaly, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand po... |
OMIM:615938 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Micr... |
ORPHA:64754 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Anophthalmia, Microphthalmia, Microcephaly, Occipital encephalocele, ... |
OMIM:613885 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Microphthalmia, Microcephaly |
ORPHA:3434 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Microcephaly, Microphthalmia, Rocker bottom f... |
OMIM:616570 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... |
OMIM:600384 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Agenesis of corpus callosum, Congenital hip dislocation, Mic... |
OMIM:164180 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial h... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Spina bifida, Macrocephaly, Hydrocephal... |
ORPHA:1931 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... |
ORPHA:93320 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... |
OMIM:211960 |
| Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertrophic cardio... |
OMIM:615382 |
| Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
| Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
| Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Hypoplasia of the brainstem, Primary microcephaly, Thin corpus callosum, Dy... |
OMIM:615771 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyl... |
ORPHA:139471 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Humero-Radial Synostosis |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... |
ORPHA:3265 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Anophthalmia, Hip ... |
OMIM:206920 |
| Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Microcephaly |
OMIM:251220 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... |
OMIM:615297 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly |
OMIM:213010 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Agenesis... |
ORPHA:380 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Microphthalmia, Abnormal thumb morphology |
OMIM:614082 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr... |
ORPHA:1528 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly,... |
OMIM:603194 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| 15Q11Q13 Microduplication Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Agenesis of cerebellar vermis, Anencephaly, Hydrocephalus, Microphtha... |
OMIM:611134 |
| Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Microphthalmia, Ab... |
OMIM:218670 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Joubert Syndrome 22 |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Hypoplasia of the corpus callosum... |
OMIM:615665 |
| Meckel Syndrome, Type 5 |
|
Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Occipital en... |
OMIM:611561 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
| Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Microphthalmia, Microcephaly |
ORPHA:291 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius |
ORPHA:2476 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Deviation of finger, Anophthalmia |
ORPHA:1104 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... |
OMIM:603546 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Cavum septum pellucidum, Hydrocephalus, Syndactyly, Megalencephaly, Microphthalmia, ... |
OMIM:602501 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... |
ORPHA:2839 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Macrocephaly, Spindle-shaped finger, Cerebral atrophy, Hypoplasia of t... |
ORPHA:166024 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Seckel Syndrome 2 |
|
Cerebellar hypoplasia, Heart murmur, Clinodactyly of the 5th finger, Microcephaly, Microphthalmia |
OMIM:606744 |
| Hydrolethalus |
|
Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydac... |
ORPHA:2189 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... |
ORPHA:1617 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Hypertrophic cardio... |
OMIM:619902 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... |
OMIM:182230 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
| Lissencephaly 8 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Type II lissencephaly, Microphthalmia... |
OMIM:617255 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplasia, ... |
OMIM:613155 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Short toe, Hallux valgus, Spina bifida, Toe syndactyly, Short distal pha... |
ORPHA:1327 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Microphthalmia, Cerebellar hypoplasia |
OMIM:614830 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Czeizel-Losonci Syndrome |
|
Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of toes, Spina bif... |
ORPHA:2437 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial agenesis of the ... |
OMIM:616171 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly |
OMIM:617119 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microphthalmia, Microcephaly |
ORPHA:3469 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... |
ORPHA:1553 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypopl... |
ORPHA:2117 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Type II lissencephaly, Microphthalmia, Occipital encephalocele, Macrocephaly at birth |
ORPHA:324416 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... |
OMIM:136760 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... |
ORPHA:1777 |
| Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Insulin resistance, Enlarged polycystic ovaries, Insulin-resistant diabetes mell... |
ORPHA:90301 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Spina bifida, Abnormal thumb morphology, Proximal... |
ORPHA:1120 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
| Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
| Microphthalmia, Syndromic 8 |
|
Split foot, Microphthalmia, Microcephaly |
OMIM:601349 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Microphthalmia, Cerebral atrophy, Microcephaly |
OMIM:274270 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microphthalmia, Microcephaly |
OMIM:619981 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, H... |
ORPHA:899 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Transient Neonatal Diabetes Mellitus |
|
Abnormality of the urinary system, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, A... |
ORPHA:99886 |
| Cofs Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Cerebra... |
ORPHA:1466 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia |
ORPHA:2440 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Schisis Association |
|
Spina bifida, Anencephaly, Encephalocele, Microcephaly |
ORPHA:63862 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
| Trisomy 1Q |
|
Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Cerebellar hypoplasia, Toe synd... |
ORPHA:261344 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Microcephaly, Absent toe, Short distal phala... |
OMIM:614814 |
| Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
| Hypomelanosis Of Ito |
|
Clinodactyly, Hand polydactyly, Macrocephaly, Syndactyly, Radial deviation of finger, Microcephal... |
OMIM:300337 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap... |
ORPHA:1908 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... |
OMIM:169550 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Macrocephaly, Tapered finger, Clinodactyly of the 5th finger |
OMIM:618725 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Macrocephaly, Metaphyseal cupping of ... |
OMIM:300863 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia |
ORPHA:411986 |
| Fountain Syndrome |
|
Large hands, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
| Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Cerebellar hypoplasia, Overlapping toe, Microphthalmia, Microcephaly,... |
OMIM:600118 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral w... |
OMIM:619091 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Microcephaly |
OMIM:147250 |
| Curry-Jones Syndrome |
|
Hemimegalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, ... |
OMIM:601707 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Macrocephaly, Brachydactyly, Syndactyly, Megalenceph... |
OMIM:600325 |
| 17Q12 Microduplication Syndrome |
|
Toe syndactyly, Microphthalmia, Finger syndactyly, Cortical dysplasia |
ORPHA:261272 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... |
OMIM:617927 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebellar hypoplasia, Simplified gyral pattern, Microphthalmia, Pachygyria, Microcephaly, Cerebr... |
OMIM:251270 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Split foot, Split hand |
DECIPHER:46 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Cerebellar hypoplasia, Spina bifida, Toe syndactyly, Lissencephaly, Microcepha... |
OMIM:616038 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Occipital enc... |
OMIM:607361 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical myelopathy, Agenesis of co... |
OMIM:207950 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum |
ORPHA:63260 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Agenesis of ... |
OMIM:175700 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Leukoencephalopathy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrocephalus, Optic ner... |
OMIM:615181 |
| Trisomy 13 |
|
Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morphology, Microphthal... |
ORPHA:3378 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Thick corpus callosum, Hydrocephalus, Macrocephaly, Mitral regurgitation,... |
OMIM:603387 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Cerebellar hypoplasia, Thin corpus callosum, Short finger, Clinodactyly, Syn... |
OMIM:300049 |
| Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
| Pierpont Syndrome |
|
Short toe, Abnormal cortical gyration, Primary microcephaly, Short finger, Excessive wrinkling of... |
ORPHA:487825 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Anophthalmia, Macrocephaly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Agyria, Hydrocephal... |
OMIM:613153 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Macrocephaly, Clin... |
ORPHA:3210 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia involvin... |
OMIM:157900 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Thin corpus callosum, Camptodactyly, Down-sloping shoulders, Microphthalmia, Microcephaly, Cubitu... |
OMIM:619694 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Cerebellar hypoplasia, Hydrocep... |
ORPHA:163966 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:77298 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Anophthalmia, Abnormal finger morphology, Abnormal cortical gyration, Abnormal... |
ORPHA:2538 |
| Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Patellar hypoplasia, Patellar aplasia, Hypoplastic radial head, Spina bifida, Ili... |
OMIM:161200 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th finger, Brachydactyly... |
OMIM:618914 |
| Nephronophthisis 15 |
|
Polydactyly, Cerebellar vermis hypoplasia |
OMIM:614845 |
| Pierpont Syndrome |
|
Short toe, Short foot, Short finger, Microphthalmia, Microcephaly, Deep palmar crease, Short palm... |
OMIM:602342 |
| Adams-Oliver Syndrome 2 |
|
Cerebellar hypoplasia, Hydrocephalus, Macrocephaly, Single transverse palmar crease, Absent dista... |
OMIM:614219 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Meckel Syndrome, Type 10 |
|
Cerebellar hypoplasia, Anencephaly, Camptodactyly, Dandy-Walker malformation, Postaxial foot poly... |
OMIM:614175 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy |
ORPHA:85447 |
| Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Occip... |
OMIM:614815 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Cerebellar hypopl... |
OMIM:610758 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Short palm, Hypertension |
ORPHA:79094 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Syringomyelia, Phocomelia, Ta... |
OMIM:274000 |
| Joubert Syndrome 10 |
|
Macrocephaly, Postaxial polydactyly, Cerebellar vermis hypoplasia |
OMIM:300804 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal palmar dermatoglyphics, Finger syndactyly, Spina bifida, Toe sy... |
ORPHA:2092 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Proximal placement of thumb, Abnormal metaphysis morphology, Abnormal epiphysis m... |
ORPHA:93267 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Macrocephaly, Epiphyseal dysplasia, Flatt... |
OMIM:607131 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus... |
OMIM:615249 |
| Meckel Syndrome |
|
Preaxial hand polydactyly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:564 |
| Monosomy 5P |
|
Finger syndactyly, Small hand, Microcephaly |
ORPHA:281 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Anophthalmia, Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Hydro... |
ORPHA:3412 |
| Sclerosteosis |
|
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly |
ORPHA:3152 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Preaxial hand polydactyly, Short 5th finger, Spina bifida, Broad phalanx, Per... |
ORPHA:508498 |
| Caudal Duplication |
|
Spina bifida, Spinal cord lesion, Myelomeningocele |
ORPHA:1756 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Hydrocephalus, Macrocephaly, Dandy-Walker malformation, Optic nerve ... |
OMIM:605627 |
| Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Abnormality of the upper limb, Encephalocele, Finger syndactyly,... |
ORPHA:974 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Spina bifida, Hydrocephalus, Macrocephaly, Down-s... |
OMIM:109400 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... |
OMIM:113000 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Spina bifida, Biparietal narrowing, Hip dislocation, Dandy-Walker malfor... |
ORPHA:99776 |
| Joubert Syndrome 14 |
|
Meningocele, Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Intracranial hemorrhage, ... |
OMIM:614424 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs i... |
OMIM:615415 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Ap... |
ORPHA:1926 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Microcephaly, Hypoplastic ischia |
OMIM:616910 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Abnormal shoulder morphology |
ORPHA:2345 |
| Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syndactyly, Anopht... |
ORPHA:264200 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia, Absent distal phalanges, Small hand, 2-5 finger cutaneous syndactyly |
OMIM:619339 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Spina bifida, Porencephalic cyst, Clinodactyly of the 5th finger, ... |
ORPHA:1393 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Arrhinencephaly, Optic ne... |
OMIM:617914 |
| Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper limb, Aplasia/Hypoplasia of the corpus callosum... |
ORPHA:3380 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Congenital Toxoplasmosis |
|
Cerebral calcification, Hydrocephalus, Microphthalmia, Microcephaly |
ORPHA:858 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Foot polydactyly, Porencephalic cyst, Short finger, Hand polydactyly... |
OMIM:258860 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper ... |
ORPHA:88630 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia |
ORPHA:2547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Cerebral ischemia, Toe syndactyly, Foot ... |
ORPHA:60040 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Mitral valve... |
ORPHA:730 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Microphthalmia, Rocker bottom foot, Microcephaly |
OMIM:610756 |
| Bresek Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Postaxial hand polydactyly |
ORPHA:85284 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Anophthalmia, Ulnar deviation of finger, Aniridia, Mitral regurgitation,... |
ORPHA:1101 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormal urine carbohydrate level |
ORPHA:2056 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... |
OMIM:617102 |
| Cousin Syndrome |
|
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... |
OMIM:260660 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly |
ORPHA:1406 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Lissencephaly, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Dysplastic corpus callosum, ... |
OMIM:614833 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Relative macrocephaly, Clinodactyly of the 5th finger, Upper limb asymmetry |
ORPHA:231140 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Temtamy Syndrome |
|
Thick corpus callosum, Agenesis of corpus callosum, Hip dislocation, Aortic regurgitation, Short ... |
OMIM:218340 |
| Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Dan... |
ORPHA:63259 |
| Ritscher-Schinzel Syndrome 2 |
|
Cerebellar hypoplasia, Clinodactyly, Camptodactyly, Macrocephaly, Overlapping toe, Broad hallux, ... |
OMIM:300963 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Clinodactyly of the 2nd finger, Abnormally large globe, Short fo... |
ORPHA:363417 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Coxa valga, Joint contracture of the hand, Cerebellar hypoplasia, Elbow flexion contracture, Agen... |
OMIM:214150 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Agenesis of corpus callosum, Lissencephaly, Overlapping toe, Preaxial polydactyly, Microcephaly, ... |
OMIM:618142 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Aplasia/Hypoplasia of the corpus callosum, Aqueductal stenosis, Humero... |
OMIM:251230 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot |
OMIM:601005 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Macrocephaly, Microcephaly, Brachydactyly |
ORPHA:313781 |
| Holoprosencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Spinal dysraphism, Encephalocele, Branchial anomaly, Anopht... |
ORPHA:2162 |
| Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Toe syndactyly, Spina bifida occulta, Postaxial ha... |
OMIM:305600 |
| Amish Lethal Microcephaly |
|
Spina bifida, Lissencephaly, Microcephaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia |
ORPHA:99742 |
| Joubert Syndrome 23 |
|
Polydactyly, Dysplastic corpus callosum |
OMIM:616490 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Microphthalmia |
ORPHA:195 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion contracture, Absent... |
ORPHA:1692 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Urethral atresia, Enlarged kidney, Dextrocardia, Transposition of ... |
OMIM:314390 |
| Sandestig-Stefanova Syndrome |
|
Primary microcephaly, Clinodactyly, Camptodactyly, Microphthalmia, Bilateral single transverse pa... |
OMIM:618804 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation, Syringomyelia |
ORPHA:404451 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Syndactyly, Toe clinodact... |
OMIM:300244 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Microphthalmia, Cerebellar hypoplasia |
OMIM:613730 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia |
OMIM:618838 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... |
ORPHA:59315 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Syndactyly, Holoprosencephaly, Narrow palm, Microcephaly |
ORPHA:1445 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of toe, Biparietal narrowing, Macrocephaly, Microphthalmia, Sandal ... |
ORPHA:251038 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydrocephalus, P... |
ORPHA:370959 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th finger, H... |
ORPHA:1352 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Enlarged kidney, Nonketotic hypoglycemia, Polycystic kidney dysplasia, Long-chai... |
OMIM:608836 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Microphthalmia |
ORPHA:48431 |
| Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Joint contracture of the hand, Primary microcephaly, Spina bifida, Short umbil... |
OMIM:256520 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... |
OMIM:617926 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5th finger, Dow... |
ORPHA:1520 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Short toe, Broad femoral neck, Cardiomyopathy, Avascular necrosis of the... |
OMIM:212720 |
| Monosomy 18P |
|
Hypertension, Holoprosencephaly, Microcephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
| Limb Body Wall Complex |
|
Duplication of hand bones, Encephalocele, Myelomeningocele, Forearm reduction defects, Cutaneous ... |
ORPHA:2369 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... |
ORPHA:392 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Warburg Micro Syndrome 2 |
|
Global brain atrophy, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Overlapping toe, ... |
OMIM:614225 |
| Frontorhiny |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cranium bifidu... |
ORPHA:391474 |
| Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
| Baraitser-Winter Syndrome 2 |
|
Lissencephaly, Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum |
OMIM:614583 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function, Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Sirenomelia |
|
Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia |
ORPHA:3169 |
| Joubert Syndrome 7 |
|
Genu valgum, Hypoplasia of the brainstem, Encephalocele, Abnormal corpus callosum morphology, Pos... |
OMIM:611560 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Macroce... |
OMIM:614643 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology, Microphthalmia, Microcephaly |
ORPHA:290 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Syndactyly, Holoprosencephaly, Mitral regurgitation, Microphthalmia, ... |
OMIM:619879 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Sh... |
ORPHA:2994 |
| Mohr Syndrome |
|
Metaphyseal irregularity, Preaxial hand polydactyly, Preaxial foot polydactyly, Partial duplicati... |
OMIM:252100 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Impaired gluconeogenesis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Rec... |
OMIM:212140 |
| Gracile Bone Dysplasia |
|
Slender long bone, Hydrocephalus, Flared metaphysis, Microphthalmia, Brachydactyly, Aniridia |
OMIM:602361 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hip dysplasia, Agenesis of corpus callosum, Hydrocephalus, Deviation of the 5th finger, Broad hal... |
OMIM:616362 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Corpus callosum atrophy, Diffuse cerebral atrophy, Microcephaly |
ORPHA:77299 |
| Neurooculocardiogenitourinary Syndrome |
|
Abnormality of the palmar creases, Secondary microcephaly, Microphthalmia, Tricuspid regurgitation |
OMIM:618652 |
| 3P25.3 Microdeletion Syndrome |
|
Tapered finger, 2-3 finger syndactyly, Congenital pseudoarthrosis of the clavicle, Broad hallux, ... |
ORPHA:435638 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Clinodactyly of the 5th f... |
OMIM:236500 |
| Holoprosencephaly 9 |
|
Anophthalmia, Abnormal cortical gyration, Hydrocephalus, Optic nerve hypoplasia, Holoprosencephal... |
OMIM:610829 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Tapered finger, Pulmonic stenosis, Anencephaly, Agenesis of corpus callosum, Campt... |
OMIM:619148 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral ... |
OMIM:607597 |
| Weaver Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Macrocephaly, Broad thumb, Sandal gap, Abnormal metap... |
ORPHA:3447 |
| Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Postaxial foot polydacty... |
OMIM:264480 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Microcephaly, Arachnodactyly |
OMIM:619092 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Thin corpus callosum, Broad hallux, Single transverse palmar crease, Microphthalmia, Microcephaly... |
OMIM:614105 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb, Abnormal thumb morphology |
ORPHA:1825 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Short foot, Finger syndactyly, Toe syndacty... |
ORPHA:93258 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly |
OMIM:617883 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... |
OMIM:609945 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Broad hallux, Syndactyly, Broad thumb, Microcephaly, Promi... |
OMIM:613684 |
| Hallermann-Streiff Syndrome |
|
Pulmonary arterial hypertension, Telangiectasia, Spina bifida, Slender long bone, Hypertension, A... |
OMIM:234100 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly |
OMIM:614702 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Camptodactyly, Syndactyly, Split foot, Split hand |
OMIM:603543 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Broad thumb, Microceph... |
OMIM:619721 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Hand clenching, Anophthalmia, Talipes equinovarus, Radioulnar synostosis, Dan... |
OMIM:300166 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Shoulder dislocation, Absent thumb, Radial deviation of the hand, Aplasia of... |
OMIM:607323 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
| Fanconi Anemia |
|
Triphalangeal thumb, Abnormality of the upper limb, Finger syndactyly, Spina bifida, Aplasia/Hypo... |
ORPHA:84 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Spinal dysraphism, Hallux valgus, Hip dislocation, Metatarsus adductus, ... |
OMIM:114290 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
| Developmental And Epileptic Encephalopathy 1 |
|
Global brain atrophy, Microphthalmia, Microcephaly |
OMIM:308350 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Arrhinencephaly, Radioulnar synostosis, Abnormal pelvic g... |
ORPHA:1788 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
| Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Arrhinencephaly, Central Y-... |
OMIM:277170 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Global brain atrophy, Microphthalmia, Microcephaly, Cere... |
OMIM:616920 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Metatarsal synostosis, Oligodactyly, Promin... |
ORPHA:2756 |
| Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly |
OMIM:614615 |
| 1Q21.1 Microdeletion Syndrome |
|
Toe syndactyly, Foot polydactyly, Agenesis of corpus callosum, Hydrocephalus, Hand polydactyly, C... |
ORPHA:250989 |
| Trisomy 20P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Spina bifida, Brachydactyl... |
ORPHA:261318 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Contracture of thumb, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus ca... |
OMIM:607932 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Tapered finger, Short foot, Finger syndactyly... |
ORPHA:251014 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flat acetabular roof, Hemiatrophy of upper limb, Abnormal f... |
ORPHA:163649 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hypoglycemia, Decreased glomerular filtration rate, Hepatomegaly, Fasting hypogl... |
OMIM:232200 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Cerebellar hypoplasia, Spina bifida, Macrogyria, Cerebral calcificati... |
ORPHA:2671 |
| Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Genu valgum, Flexion contracture of the 2nd toe, Radioulnar synostosis, Flexi... |
ORPHA:2712 |
| Joubert Syndrome 21 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Hypoplasia of the brainstem, Anophtha... |
OMIM:615636 |
| Meacham Syndrome |
|
Ventricular septal defect, Cardiac total anomalous pulmonary venous connection, Enlarged kidney, ... |
OMIM:608978 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615994 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Aicardi Syndrome |
|
Cavum septum pellucidum, Spina bifida, Cerebellar vermis hypoplasia, Partial agenesis of the corp... |
OMIM:304050 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Tapered finger, Sandal gap |
ORPHA:1438 |
| Cockayne Syndrome Type 2 |
|
Subcortical white matter calcifications, Anophthalmia |
ORPHA:90322 |
| Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Finger clinodactyly, Cutaneous... |
OMIM:272440 |
| Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Macrocephaly, Sh... |
OMIM:169400 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Arrhythmia, Synostosis of carpal bones, Microphthalmia, Bilateral single transverse palmar creases |
ORPHA:3191 |
| Joubert Syndrome 37 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Postaxial polydactyly, Cerebellar vermis hypop... |
OMIM:619185 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Cerebellar hypoplasia, Hip dysplasia, Camptodactyly, Microphthalmi... |
OMIM:611961 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Clubbing of fingers, Internal hemorrhage |
ORPHA:335 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Hypoplasia of the radius, Optic nerve hypoplasia, Absent sept... |
OMIM:609053 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... |
ORPHA:137902 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Postaxial hand polydactyly, Postaxial po... |
OMIM:217085 |
| Ivic Syndrome |
|
Limited interphalangeal movement, Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limi... |
OMIM:147750 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly,... |
ORPHA:397590 |
| Marden-Walker Syndrome |
|
Hypoplasia of the brainstem, Joint contracture of the hand, Cerebellar hypoplasia, Inferior cereb... |
OMIM:248700 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Microphthalmia, Brachydactyly |
OMIM:614526 |
| Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty... |
ORPHA:959 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria |
OMIM:222100 |
| Jacobsen Syndrome |
|
Short toe, Finger syndactyly, Spina bifida, Toe syndactyly, Long hallux, Macrocephaly, Hip disloc... |
ORPHA:2308 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Neonatal hypoglycemia, Hypertrophic cardiomyopathy, Bivent... |
OMIM:261740 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short long bone, Macrocephaly, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs... |
OMIM:615503 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Cardiomyopathy, S... |
ORPHA:175 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Agyria, Hydrocephalus, Macrocephaly, Cerebellar vermis hypoplasia, Cerebral calcification, Buphth... |
OMIM:616538 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Renal tubular acidosis, Dicarboxylic aciduria, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Finger syndactyly, Clinodactyly, Broad dista... |
ORPHA:464738 |
| Baraitser-Winter Syndrome 1 |
|
Lissencephaly, Duplication of phalanx of hallux, Microphthalmia, Microcephaly, Pachygyria, Aortic... |
OMIM:243310 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Nephrotic syndrome |
OMIM:269920 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Long penis, Hypoglycemia, Postprandial hyperglycemia, In... |
OMIM:262190 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bottom foot, Bulbo... |
OMIM:304120 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Atrial septal defect, Nephritis, Hype... |
OMIM:617303 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Macrocephaly, Microphthalmia |
OMIM:617306 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism, Tethered cord, Sandal gap, Macrodactyly |
OMIM:612918 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Acrofrontofacionasal Dysostosis 2 |
|
Hand polydactyly, Broad hallux, Syndactyly, Broad thumb, Microcephaly |
OMIM:239710 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Encephalocele, Patellar hypoplasia, ... |
OMIM:603671 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Microcephaly |
OMIM:257910 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Mitral stenosis, Tethered cord, Microcephaly, Aortic valve stenosis |
OMIM:617660 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Triploidy |
|
Meningocele, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the corpus callosum, Fin... |
ORPHA:3376 |
| Hemochromatosis, Type 1 |
|
Glucose intolerance, Diabetes mellitus, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hip dysplasia, Cerebellar vermis hypoplasia, Overlapping toe, Microphthalmia, Cerebral atrophy, O... |
OMIM:618494 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Insulin resistance, Nephropathy, Hyperglycemia, E... |
ORPHA:69076 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida, Hip dislocation, Abnormality of tibia morphology, Abnormality of ... |
ORPHA:93929 |
| Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Encephalocele, Toe syndactyly, Periventricular leukomalacia, Hyp... |
OMIM:100300 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microphthalmia, Microcephaly |
ORPHA:1942 |
| Microphthalmia, Syndromic 3 |
|
Anophthalmia, Optic nerve aplasia, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Hypoplas... |
OMIM:206900 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Syndactyly, Brachydactyly, Portal hypertension, Tricuspid regurgitation |
OMIM:616589 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, At... |
OMIM:208540 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Single transverse palmar crease, Microphthal... |
OMIM:616449 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Postaxial polydactyly, Short long bone |
OMIM:615633 |
| Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Joint contracture of the hand, Clinodactyly of the 5th toe, Single trans... |
OMIM:244300 |
| Refsum Disease |
|
Short metacarpal, Heart block, Microphthalmia, Hammertoe, Abnormal epiphysis morphology, Cardiomy... |
ORPHA:773 |
| Oculo-Palato-Cerebral Syndrome |
|
Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Small hand, Microphthalmia, Micr... |
ORPHA:2714 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cerebellar hypoplasia, 3-4 finger cutaneous syndactyly, Holoprosencephaly, Microphthalmia, Sandal... |
OMIM:612530 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Brachydactyly, Deep palm... |
OMIM:619451 |
| Laurence-Moon Syndrome |
|
Brachydactyly, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Upper limb asymmetry, Microphthalmia, Microcephaly, Umbilical hernia |
ORPHA:2505 |
| Roberts Syndrome |
|
Wrist flexion contracture, Aplasia/Hypoplasia of the thumb, Abnormality of the upper limb, Comple... |
ORPHA:3103 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Tapered finger, Macular hypoplasia, Overlapping toe, Microcephaly, Postaxial polydactyly |
OMIM:613792 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Holoprosencep... |
ORPHA:1587 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia, Heart murmur |
ORPHA:2728 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Warburg Micro Syndrome 3 |
|
Cerebral cortical atrophy, Clinodactyly of the 5th finger, Secondary microcephaly, Microphthalmia... |
OMIM:614222 |
| Teebi-Shaltout Syndrome |
|
Caudal appendage, Talipes equinovarus, Camptodactyly, Metatarsus adductus, Syndactyly, Single tra... |
OMIM:272950 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hypoglycemia, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, F... |
OMIM:232220 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Hypoplasia of the radius, Relative macrocephaly, Syndactyly, Brachydactyly, Pos... |
OMIM:617895 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Hepat... |
OMIM:256550 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Hydrocephalus, Ulnar bowing, Hypoplastic ischia, Single transv... |
OMIM:617866 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Broad hallux, Syndactyly... |
OMIM:212780 |
| Mulibrey Nanism |
|
Nephroblastoma, Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly |
OMIM:253250 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
2-3 toe syndactyly, Macrocephaly, Single transverse palmar crease, Microphthalmia, Joint contract... |
OMIM:620098 |
| Joubert Syndrome 15 |
|
Polydactyly |
OMIM:614464 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Telangiectasia, Abnormal EKG, Hydrocephalus, Macrocephaly, Hypoplasia of the fovea, ... |
ORPHA:93400 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Syndactyly, Clinodactyly of the 5th finger |
OMIM:601163 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Genu varum, Advanced ossification of carpal bones, Coxa valga, Short met... |
OMIM:615777 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia |
OMIM:619053 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Tapered distal ... |
OMIM:609638 |
| Tyrosinemia, Type I |
|
Enlarged kidney, Glomerular sclerosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hepatomegaly, N... |
OMIM:276700 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Complete duplication of thumb... |
ORPHA:568 |
| Stromme Syndrome |
|
Cerebellar hypoplasia, Hydrocephalus, Optic nerve hypoplasia, Preaxial polydactyly, Microcephaly,... |
OMIM:243605 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Small hand, Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Short palm |
OMIM:241410 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Wide pubic symphysis, Encephalocele, Myelomeningocele, Cutaneous... |
OMIM:219000 |
| White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:2475 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Encephalocele, Short long bone, Cerebellar hypoplasia, Flat acetabular roof, Relativ... |
OMIM:616300 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Microcephaly |
OMIM:301022 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Microcephaly, Postaxial polydactyly |
ORPHA:544254 |
| Pfeiffer Syndrome |
|
Short middle phalanx of toe, Finger syndactyly, Humeroradial synostosis, Elbow ankylosis, Hydroce... |
OMIM:101600 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Microcephaly, Arachnodactyly, Short palm |
ORPHA:73246 |
| Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphthalmia, Microcep... |
ORPHA:891 |
| Endocrine-Cerebroosteodysplasia |
|
Aplasia/Hypoplasia of the cerebellum, Focal polymicrogyria, Ulnar deviation of the hand, Agenesis... |
OMIM:612651 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Clinodactyly, Broad hallux, Sandal gap, Microphthalmia, Brachydactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... |
ORPHA:255249 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Cerebella... |
OMIM:617822 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Agyria, Hydrocephalus, Hypopla... |
OMIM:253800 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Short distal ph... |
ORPHA:1515 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis |
OMIM:608022 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Aplasia/Hypoplasia of the corpus callosum, Syringomyelia, Hip dysplasia |
ORPHA:531151 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Buphthalmos, Ty... |
OMIM:613150 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short long bone, Absent tibia, Short digit, Agenesi... |
OMIM:613091 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Tapered finger, Finger syndactyly, Camptodactyly, Single transverse palmar crease, Microcephaly, ... |
ORPHA:435938 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Cutaneous syndactyly, Neural tube defect |
OMIM:119580 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Clinodactyly of the 5th finger, Brachydactyly, Spina bifida occult... |
ORPHA:1786 |
| Cohen Syndrome |
|
Genu valgum, Tapered finger, Finger syndactyly, Slender toe, Clinodactyly of the 5th finger, Narr... |
ORPHA:193 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Clinodactyly, Single transverse palmar crease, Microcephaly, Brachydactyly |
OMIM:618950 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Nonketotic hypoglycemia, Dicarboxylic aciduria, Hypertrophic card... |
OMIM:201475 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Spina bifida, Foot polydactyly, Arrhinencephaly, Hydrocephalus, Talipes equinovarus,... |
ORPHA:567 |
| Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... |
OMIM:618280 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Short 5th finger, Broad hallux, Broad thumb, Sandal gap, Microcephaly, Short ... |
OMIM:600987 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... |
ORPHA:85451 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus, Hypoplasia of the ... |
ORPHA:3186 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Cerebral cortical atrophy, Finger syndactyly, Cerebellar hypoplasia, Toe syndactyly, Abnormal met... |
ORPHA:3224 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Hepatomegaly, Cardio... |
ORPHA:42 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial polydactyly |
OMIM:615996 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Short foot, Finger syndactyly, Small hand, Clinodactyly of the 5th finge... |
ORPHA:915 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Clinodactyly of the 5th finger, Microphthalmia, Microcephaly |
ORPHA:2399 |
| Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Hyperintensity of cerebral white matter on MRI, Flared iliac wing, Spina bifida occu... |
OMIM:180849 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Abnormality of the kidne... |
ORPHA:552 |
| Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Short metacarpal, Short finger, Abnormal finger flexion crea... |
ORPHA:2980 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... |
OMIM:252920 |
| Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist... |
ORPHA:3472 |
| Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Abnormal pelvis bone ossification, Abnormal pelv... |
ORPHA:166119 |
| Galloway-Mowat Syndrome 3 |
|
Simplified gyral pattern, Camptodactyly, Hypertension, Hip dislocation, Lissencephaly, Microphtha... |
OMIM:617729 |
| Tarp Syndrome |
|
Short sternum, Cerebellar hypoplasia, Hypoplasia of the radius, Talipes equinovarus, Clinodactyly... |
OMIM:311900 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Syndactyly, Brachydactyly, Short distal phala... |
OMIM:614091 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Postaxial polydactyly, Broad dist... |
ORPHA:404440 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sandal gap, Postaxial polydactyly, Broad distal phalanx of finger |
OMIM:615761 |
| Mend Syndrome |
|
2-3 toe syndactyly, Hydrocephalus, Hand polydactyly, Overlapping toe, Broad hallux, Microphthalmi... |
ORPHA:401973 |
| Neurofibromatosis, Type I |
|
Genu valgum, Aqueductal stenosis, Spina bifida, Hydrocephalus, Macrocephaly, Hypertension, Tibial... |
OMIM:162200 |
| Methylcobalamin Deficiency Type Cble |
|
Hypoplasia of the brainstem, Hydrocephalus, Clinodactyly, Hypertension, Abnormal cerebral white m... |
ORPHA:2169 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Encephalocele, Spina bifida, Microcephaly, Arrhythmia |
ORPHA:991 |
| Fraser Syndrome |
|
Myelomeningocele, Encephalocele, Wide pubic symphysis, Finger syndactyly, Toe syndactyly, Anophth... |
ORPHA:2052 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... |
ORPHA:3320 |
| Eem Syndrome |
|
Ectrodactyly, Finger syndactyly |
ORPHA:1897 |
| Cockayne Syndrome Type 1 |
|
Hypertension, Anophthalmia, Basal ganglia calcification |
ORPHA:90321 |
| Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Macrocephaly, Postaxial foot polydacty... |
OMIM:608091 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger, Microphthalmia |
OMIM:302350 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Macrocephaly, Unilateral microphthalmos |
OMIM:615085 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Microcephaly, Cerebellar hypoplasia |
OMIM:618087 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Autosomal Dominant Keratitis |
|
Macular hypoplasia, Corneal neovascularization, Hypoplastic iris stroma, Hypoplasia of the fovea,... |
ORPHA:2334 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Agenesis of cerebellar vermis, Encephalocele, Microphthalmia, Agenesis of corpus callosum |
ORPHA:228390 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Acetabular spurs, Abnormal ilium mor... |
ORPHA:1505 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal... |
ORPHA:228308 |
| Oculodentodigital Dysplasia |
|
Short middle phalanx of the 5th finger, 4-5 finger syndactyly, Clinodactyly, Hip dislocation, Abn... |
OMIM:164200 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Leprechaunism |
|
Hyperinsulinemia, Enlarged ovaries, Enlarged kidney, Insulin resistance, Long penis, Recurrent in... |
ORPHA:508 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Long fingers, Dandy-Walker malfo... |
OMIM:156610 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebellar hypoplasia, Hypoplasia of the iris, Porencephalic cyst, Hydrocephalus, Agenesis of cor... |
OMIM:613001 |
| 3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Mi... |
ORPHA:65286 |
| Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... |
ORPHA:710 |
| Klippel-Trenaunay-Weber Syndrome |
|
Hand oligodactyly, Syndactyly, Hand polydactyly, Macrodactyly |
OMIM:149000 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Ketonuria |
OMIM:618857 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Encephalocele, Myelomeningocele, Cerebellar hypoplasia, Flared iliac win... |
ORPHA:90652 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Short long bone, Hypoplasia of the ulna, Apl... |
ORPHA:2256 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Cardiomyopathy, Arachnodactyly, Hand muscle atrophy, Spina bifida, Hydrocephalus, Macrocephaly, C... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Cardiomyopathy, Arachnodactyly, Hand muscle atrophy, Spina bifida, Hydrocephalus, Macrocephaly, C... |
ORPHA:363958 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Short femoral neck, Coxa vara, Radioulnar synostosis, Clinodactyly of the 5th... |
OMIM:614701 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of the olfactory bulb, Anophthalmia |
ORPHA:2250 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Hydrocephalus, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgit... |
ORPHA:2556 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Small hand, 4-5 finger syndactyly, 2-4 toe cutaneous syndactyly, Broad long bones, Microphthalmia... |
OMIM:257850 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Camptodactyly, Syndactyly, Bilateral microphthalmos, Abnormality of the hand, Umbil... |
ORPHA:369891 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria |
ORPHA:251004 |
| Vater/Vacterl Association |
|
Triphalangeal thumb, Spina bifida, Short thumb, Hypoplasia of the radius, Patent urachus, Radioul... |
OMIM:192350 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing, Hi... |
ORPHA:1005 |
| Oculocerebrocutaneous Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Cerebellar hypoplasia, Hydrocephalu... |
ORPHA:1647 |
| Microphthalmia, Syndromic 9 |
|
Pulmonic stenosis, Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
| Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macrocephaly, Unilateral microphthalmos, Adducted thumb, Microcephaly, Polymicrogyria |
OMIM:618874 |
| Galloway-Mowat Syndrome 1 |
|
Hand clenching, Hypoplasia of the brainstem, Joint contracture of the hand, Hypoplasia of the iri... |
OMIM:251300 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Aortic regurgitation, Toe clinodactyly, Mitral... |
ORPHA:254346 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Short digit, Syndactyly, Proximal placement of thumb, Microcephaly, Brachydactyly, Hypoplasia of ... |
OMIM:615789 |
| Incontinentia Pigmenti |
|
Camptodactyly of finger, Pulmonary arterial hypertension, Retinal hemorrhage, Cerebral cortical a... |
ORPHA:464 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, H... |
ORPHA:2166 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Finger syndactyly, Small hand, Toe syndactyly, Hydrocephalus, Short hallux, ... |
ORPHA:93259 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent foramen ovale, Nephrotic syndrome, Enlarged kidney, Atrial septal defect, Hepatosplenomega... |
ORPHA:505248 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Broad thumb, Microphthalmia, Microcephaly, Bilateral sin... |
ORPHA:1236 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Microphthalmia, Microcephaly, Shor... |
OMIM:603467 |
| Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Tethered cord, Myeloschisis, Dermal si... |
OMIM:600145 |
| Orofaciodigital Syndrome Type 6 |
|
Aplasia/Hypoplasia of the corpus callosum, Foot polydactyly, Mesoaxial polydactyly, Biparietal na... |
ORPHA:2754 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
| Bartsocas-Papas Syndrome |
|
Absent thumb, Finger syndactyly, Toe syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Hyp... |
ORPHA:391428 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aqueductal stenosis, Anophthalmia, Clinodactyly of the 5th ... |
ORPHA:138 |
| 2Q37 Microdeletion Syndrome |
|
Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, Small hand, Macrocephaly, Clinod... |
ORPHA:1001 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Relative macrocephaly, Clinodactyly of the 5th finger, Small hand |
OMIM:616489 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Hypoplasia of the corpus callosum, Finger syndactyly, Pachygyria, Microcephaly |
ORPHA:66629 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Syndactyly, Aortic valve stenosis, Pulmonic stenosis, Dandy-Walker malformation |
OMIM:220210 |
| Refsum Disease, Classic |
|
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy |
OMIM:266500 |
| 8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Abnormal m... |
ORPHA:284160 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Joint contracture of the 5th finger, Cerebellar v... |
OMIM:619562 |
| Frontofacionasal Dysplasia |
|
Hypoplasia of the corpus callosum, Encephalocele, Microphthalmia, Hypoplasia of olfactory tract |
ORPHA:1791 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Simplified gyral pattern, Microphthalmia, Microcephaly |
OMIM:152950 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Finger syndactyly, Macrocephaly, Spina bifida occulta, Micr... |
ORPHA:2311 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Raynaud phenomenon, Arrhythmia |
ORPHA:2874 |
| Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Cutaneous finger syndactyly, Elbow flexion contracture, Clino... |
ORPHA:2920 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Epiphyseal stippling, Dandy-Walker malformation, Abnormal pelvic girdle bone morphology, Tarsal s... |
OMIM:302960 |
| Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
| Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, Macular hypoplasia, Hydrocephalus, Overlapping toe, Broad hallux... |
OMIM:300960 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Hypoplastic iris stroma |
OMIM:193500 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morphology, Abnorm... |
ORPHA:3429 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Agenesis of corpus callosum, Dilated cardiomyopathy,... |
OMIM:300952 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Hip dysplasia, Hydrocephalus, Microcephaly, Cerebral atrophy, Hypopla... |
OMIM:614576 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Coxa valga, Epiphyseal stippling, Camptodactyly, Lissencephaly, M... |
ORPHA:96334 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Ho... |
OMIM:184705 |
| Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Enlarged kidney, Hepatosplenomegaly, Multiple renal cysts, Splenomegaly |
ORPHA:464329 |
| Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Hand monodactyly, Anophthalmia, Arrhinencephaly, Absent tibia, H... |
OMIM:214800 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Ventricular septal defect, Pericardial effusion, Enlarged kidney, Abno... |
ORPHA:79328 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Agyria, Hydrocephalus, Agenesis of corpus cal... |
OMIM:236670 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Complete duplication of thumb phalanx, Microphthalmia, Microcephaly, Absent radius,... |
OMIM:600901 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Camptodactyly, Absent palmar crease, Syndactyly, Microphthalmia, Hypoplasia of ... |
OMIM:614230 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Cerebellar hypoplasia, Clinodactyly, Syndactyly, Proximal placement of thumb, Microcephaly, Brach... |
OMIM:217980 |
| Pallister-Hall Syndrome |
|
Mesoaxial foot polydactyly, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Postaxial foot... |
OMIM:146510 |
| Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Perisylvian polymicrogyria, Secondary microcephaly, Microphthalmia, Hy... |
OMIM:615663 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hypoplasia of the corpus callosum, Hip dysplasia, Microphthalmia, Cerebellar vermis hypoplasia |
ORPHA:494344 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Clinodactyly of the 5th toe, Clinodactyly of the 5th finge... |
ORPHA:3255 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Kbg Syndrome |
|
Single transverse palmar crease, Finger clinodactyly, Cutaneous syndactyly, Microcephaly |
ORPHA:2332 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing, Abn... |
ORPHA:1323 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Myelomeningocele, Abnormal cortical gyration, Porencephalic cyst, Hydrocephalus, Cli... |
OMIM:311200 |
| Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t... |
OMIM:227646 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Microphthalmia, Ag... |
ORPHA:3301 |
| Vitreoretinochoroidopathy |
|
Retinal neovascularization, Vitreous hemorrhage, Microphthalmia |
OMIM:193220 |
| Fetal Alcohol Syndrome |
|
Biparietal narrowing, Microphthalmia, Microcephaly |
ORPHA:1915 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Cerebellar hypoplasia, Foot polydactyly, Cerebral hypoplasia, Anencephal... |
OMIM:249000 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Microphthalmia, Polymicrogyria |
OMIM:612379 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Hypoplasia of the frontal lobes, Lobar holoprosencephaly, Optic nerve hy... |
ORPHA:468631 |
| Tukel Syndrome |
|
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Split hand, Finger syndactyly, Brachydactyly |
ORPHA:2145 |
| Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
| Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Polydactyly |
OMIM:616629 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polydactyly, Midline brain calcifications, Joint contracture of the hand, Agyria, Camptodactyly, ... |
OMIM:247200 |
| Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Agenesis... |
ORPHA:137675 |
| Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of... |
ORPHA:158687 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Hallux valgus, Finger syndactyly, Foot polyda... |
ORPHA:2008 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Complete duplication of thumb phalanx, Microphthalmia, Microcephaly, Absent radius,... |
OMIM:227650 |
| H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Diabetes mellitus, Micropenis |
ORPHA:168569 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiomegaly, Micropenis, Hy... |
OMIM:616897 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Cerebellar hypoplasia, Short digit, Open operculum, Dandy-Walker malformation, Early... |
ORPHA:397715 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Neonatal hypoglyce... |
ORPHA:116 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Hip dysplasia, Clubbing of toes, Clinodactyly of the 5th finger, Abnormal dist... |
ORPHA:783 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Diabetes mellitus, Hepatomegaly, Hyperglycemia, Cardiomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:465508 |
| Micro Syndrome |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Lissencephaly, Microphthalm... |
ORPHA:2510 |
| Mycophenolate Mofetil Embryopathy |
|
Foot polydactyly, Hydrocephalus, Microphthalmia, Short palm, Agenesis of corpus callosum |
ORPHA:268249 |
| Apert Syndrome |
|
Broad distal phalanx of the thumb, Broad distal hallux, Preaxial hand polydactyly, Limited elbow ... |
OMIM:101200 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Finger syndactyly, Aplasia/Hypoplasia involving the central nervous system, Aplasia of the distal... |
OMIM:308050 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cranium bifidum occultum, Pectoral muscle hypoplasia/aplasia, Microphtha... |
ORPHA:306542 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microphthalmia, Microcephaly |
OMIM:234050 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
| Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Clinodactyly of the 5th finger |
OMIM:619736 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Glomerulonephritis, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Telangiectasia, Microphthalmia, Microcephaly, Corneal neovascularization |
OMIM:278730 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Anencephaly, Hydrocephalus, Cerebellar vermis hypoplasia, Preaxial polydactyly... |
OMIM:616546 |
| Bohring-Opitz Syndrome |
|
Short toe, Hypoplasia of the brainstem, Tapered finger, Ulnar deviation of the wrist, Agenesis of... |
OMIM:605039 |
| Myhre Syndrome |
|
Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Short long bone, Short finger, Camptodacty... |
OMIM:139210 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Hydrocephalus, Single transverse palmar crease, Junctional ectopic t... |
OMIM:309801 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Short foot, Hyperextensibility of the finger joints, Clinodactyly, Syndactyly, ... |
OMIM:305400 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cerebral cortical atrophy, Abnormal cortical gyration, Palmoplantar hyperhidrosis, Cessation of h... |
OMIM:617527 |
| Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Hydrocephalus, Macrocephaly, Microphthalmia, Calcification of falx cere... |
ORPHA:77301 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Cardiomegaly, Proteinuria |
OMIM:618886 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Crane-Heise Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Aplastic clavicle, Finger syndactyly, Toe syndactyly, ... |
ORPHA:1512 |
| Premature Aging Syndrome, Penttinen Type |
|
Slender long bone, Macrocephaly, Palmoplantar hyperkeratosis, Flexion contracture of finger, Oste... |
OMIM:601812 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Macrocephaly, Thickened cortex of long bon... |
OMIM:127000 |
| Acrofacial Dysostosis, Palagonia Type |
|
Spina bifida occulta, Short 4th metacarpal, Finger syndactyly, Small hand |
ORPHA:1787 |
| Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Abnormal cortical gyration, Anencephaly, Arrhi... |
OMIM:236680 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Cerebral cortical atrophy, Hyperextensibility of the finger join... |
OMIM:151050 |
| Cantú Syndrome |
|
Coxa valga, Finger syndactyly, Macrocephaly, Hypertrophic cardiomyopathy, Short hallux, Short dis... |
ORPHA:1517 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia, Microcephaly |
ORPHA:2526 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Exencephaly, Encephalocele, Finger syndactyly, Abnormal cortical gyrat... |
ORPHA:2211 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Syndactyly, Brachydactyly, Pulmonic stenosis, Umbilical hernia |
OMIM:616028 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tapered finger, Spina bifida, Thin corpus callosum, Partial agenesis of the corpus callosum, Teth... |
OMIM:619480 |
| Jacobsen Syndrome |
|
Macular hypoplasia, Hydrocephalus, Clinodactyly of the 5th finger, Macrocephaly, Holoprosencephal... |
OMIM:147791 |
| 3C Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Hydrocephalus, Hand polydactyly, Macroce... |
ORPHA:7 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Macrocephaly, Overlapping toe, Long toe, Overlapping fingers, Long fingers, Cutaneous syndactyly |
OMIM:618316 |
| Proboscis Lateralis |
|
Anophthalmia, Macrocephaly, Optic nerve hypoplasia, Holoprosencephaly, Abnormal corpus callosum m... |
ORPHA:141099 |
| Ring Chromosome 12 Syndrome |
|
Clinodactyly, Abnormal 5th finger morphology, Syndactyly, Microcephaly, Symphalangism of the thumb |
ORPHA:1439 |
| Branchiooculofacial Syndrome |
|
Preaxial hand polydactyly, Branchial anomaly, Anophthalmia, Elbow flexion contracture, Clinodacty... |
OMIM:113620 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Abnormal right ventricle morphology, Bifid ureter, Ventricular septal defect, Mul... |
ORPHA:500095 |
| Bardet-Biedl Syndrome 1 |
|
Foot polydactyly, Macrocephaly, Hypertension, Postaxial foot polydactyly, Syndactyly, Radial devi... |
OMIM:209900 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Congenital hip dislocation, To... |
ORPHA:217346 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Inferior cerebellar vermis hypoplasia, Microphthalmia |
OMIM:618571 |
| Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Spinal cord tumor, Syringomyelia, Teth... |
ORPHA:573278 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hypoglycemic seizures, Hypoglycemia, Hepatomegal... |
ORPHA:79259 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Preaxial hand polydactyly, Finger ... |
ORPHA:2710 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:200995 |
| Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia |
OMIM:610256 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
| Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria |
ORPHA:2328 |
| Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Clinodactyly of the 2nd finger, Aplasia/Hypoplasia of the corpus... |
ORPHA:93932 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Hip dysplasia, Brachydactyly, Proximal placement of thumb, Rocker bottom foot,... |
OMIM:619762 |
| Cri-Du-Chat Syndrome |
|
Short metacarpal, High axial triradius, Metatarsus adductus, Syndactyly, Single transverse palmar... |
OMIM:123450 |
| Cerebrofacioarticular Syndrome |
|
Caudal appendage, Agenesis of corpus callosum, Camptodactyly, Syndactyly, Microcephaly, Hypoplasi... |
ORPHA:314679 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Mi... |
ORPHA:364577 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
| Linear Nevus Sebaceus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Porencephalic cy... |
ORPHA:2612 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, ... |
OMIM:252500 |
| Chromosome 13Q14 Deletion Syndrome |
|
Agenesis of corpus callosum, Hip dislocation, Clinodactyly of the 5th finger, Overlapping toe, Ho... |
OMIM:613884 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Finger syndactyly, Macrocephaly, Hand polydactyly, Congestive heart failure, ... |
ORPHA:2346 |
| Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Abnormal finger morphology, Broad hallux, Abnormal toe morpholog... |
ORPHA:404448 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Encephalocele, Finger syndactyly, Small hand, Finger symphalangi... |
ORPHA:2911 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Polydactyly, Postaxial foot polydactyly |
OMIM:615989 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum, Agenesis of cereb... |
OMIM:613451 |
| Opitz-Kaveggia Syndrome |
|
Postnatal macrocephaly, Joint contracture of the hand, Hydrocephalus, Camptodactyly, Clinodactyly... |
OMIM:305450 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Sandal gap, Microcephaly |
ORPHA:178303 |
| Fanconi Anemia, Complementation Group C |
|
Absent thumb, Complete duplication of thumb phalanx, Microphthalmia, Microcephaly, Absent radius,... |
OMIM:227645 |
| Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Macrocephaly, Sandal gap, Brachydactyly, 2-4 toe syndactyly, Postaxial polyda... |
OMIM:614099 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Cardioacrofacial Dysplasia 1 |
|
Genu valgum, Postaxial polydactyly |
OMIM:619142 |
| Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum, Postaxial foot polydactyly, Microcephaly, Sandal gap, Postaxial hand... |
OMIM:174300 |
| Pierson Syndrome |
|
Retinal hemorrhage, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasi... |
OMIM:609049 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle ... |
OMIM:180860 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Finger syndactyly, Small hand, Toe syndactyly, Short hallux, Broad thumb, Br... |
ORPHA:93260 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Agenesis of corpus callosum, Hydrocephalus, Clinodactyly of the 5th finger, Olivop... |
ORPHA:457284 |
| Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... |
OMIM:300855 |
| Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Microphthalmia, Neonatal epiphyseal ... |
ORPHA:35173 |
| Grange Syndrome |
|
Syndactyly, Finger clinodactyly, Renovascular hypertension, Brachydactyly |
OMIM:602531 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Holoprosencephaly 7 |
|
Hypoplasia of the brainstem, Hydrocephalus, Semilobar holoprosencephaly, Macrocephaly, Alobar hol... |
OMIM:610828 |
| Microphthalmia, Syndromic 1 |
|
Abnormal palmar dermatoglyphics, Anophthalmia, Joint contracture of the hand, Clinodactyly, Campt... |
OMIM:309800 |
| Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Cerebellar vermis hypoplasia, Buphthalmos, Tethered cord, Microcephaly, Postaxial p... |
OMIM:618460 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal ganglia calcification, Microphthalmia, Microcephaly |
OMIM:610651 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypoplasia of the frontal lobes, Elbow flexion contracture, Hip dislocation, Short femur, Elbow d... |
OMIM:210710 |
| Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna |
ORPHA:246 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Sickle Cell Disease |
|
Hematuria, Hepatomegaly, Cardiomegaly, Renal insufficiency, Splenomegaly |
OMIM:603903 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Hypoglycemia, Hepatomegaly, Cardiomegaly, Hydr... |
OMIM:614921 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Ohdo Syndrome, X-Linked |
|
Hip dysplasia, Clinodactyly, Overlapping toe, Microphthalmia, Ulnar deviation of the hand, Short ... |
OMIM:300895 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Limited elbow movement, Synostosis of carpal bones, Hydroc... |
ORPHA:221120 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, 3-4 finger cutaneous syndactyly, Camptodactyly, Optic nerve hypo... |
OMIM:620029 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Cerebral cortical atrophy, Hypoplasia of the brainstem, Hallux valgus, Primary micro... |
ORPHA:464306 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the phal... |
ORPHA:1112 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the upper limb, Aplasia/Hypoplasia of the co... |
ORPHA:1052 |
| Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
| Hallermann-Streiff Syndrome |
|
Small hand, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Congestive heart failure, Micr... |
ORPHA:2108 |
| Momo Syndrome |
|
Short sternum, Macrocephaly, Femoral bowing, Congenital pseudoarthrosis of the clavicle, Bilatera... |
ORPHA:2563 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Broad hallux, Syndactyly, Single transverse palmar crease, Sandal gap, Brachydactyly |
OMIM:614800 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Tapered finger, Small hand, Abnormal cortical gyration, Cerebellar hypoplasia, Hip dysplasia, Hip... |
OMIM:300968 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
2-3 toe syndactyly, Tapered finger, Clinodactyly of the 5th finger, Microphthalmia, Microcephaly,... |
OMIM:616734 |
| Hamamy Syndrome |
|
Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Down-sloping shoulders, Syndactyly... |
OMIM:611174 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Fasting hypoglycemia, Enlarged polycystic ovaries, Enlarged ovaries, Diabetic k... |
ORPHA:2298 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
| Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Umbilical hernia, Polymicrogyria |
OMIM:614520 |
| X Small Rings |
|
2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Toe syndactyly, Mitral stenosis, Clin... |
ORPHA:96201 |
| Larsen Syndrome |
|
Accessory carpal bones, Finger syndactyly, Broad thumb, Brachydactyly, Short distal phalanx of fi... |
ORPHA:503 |
| Fryns Syndrome |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Clinodactyly of the 5th finger, Microphth... |
ORPHA:2059 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Acetabular dysplasia, Broad thumb, Microphthalmia, Short distal phalanx of finger |
OMIM:201180 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Short long bone, Preaxial polydactyly, Microphthalmia, Narro... |
OMIM:617925 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hip dysplasia, Macrocephaly, Clinodactyly of the 5th finger, Hypoplastic anterior commissure, Syn... |
OMIM:616975 |
| Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Encephalocele, Talipes equinovarus |
OMIM:217100 |
| Bardet-Biedl Syndrome |
|
Postaxial hand polydactyly, Hypertension, Finger syndactyly |
ORPHA:110 |
| Tarp Syndrome |
|
Short sternum, Finger syndactyly, Cerebellar hypoplasia, Clinodactyly, Hand polydactyly, Single t... |
ORPHA:2886 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Overlapping toe, Holoprosencephaly, Abnorm... |
ORPHA:672 |
| Fucosidosis |
|
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly |
ORPHA:349 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Kinsship Syndrome |
|
Polydactyly, Coxa valga, Primary microcephaly, Hip dislocation, Dislocated radial head, Single tr... |
OMIM:619297 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Absent radius, Bilateral tali... |
OMIM:614083 |
| Fryns Syndrome |
|
Joint contracture of the hand, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Dandy... |
OMIM:229850 |
| Cockayne Syndrome B |
|
Hypoplastic iliac wing, Normal pressure hydrocephalus, Subcortical white matter calcifications, H... |
OMIM:133540 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Mitral valve prolapse, At... |
OMIM:615873 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hydrocephalus, Hypertension, ... |
ORPHA:87 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis |
OMIM:208000 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy |
OMIM:619259 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi |
ORPHA:91495 |
| Sandhoff Disease |
|
Urinary incontinence, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Hypoplasia of the radius, Hip dislocation, Hypoplasia of the ulna, Split foot,... |
ORPHA:958 |
| Aicardi Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Small hand, Hip dysplasia, Partial agenesis of the corpus c... |
ORPHA:50 |
| Acrocallosal Syndrome |
|
Bifid distal phalanx of the thumb, Preaxial hand polydactyly, Tapered finger, Finger syndactyly, ... |
OMIM:200990 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crea... |
OMIM:223370 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Type I diabetes mellitus, At... |
OMIM:602782 |
| Kbg Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crease, Radial deviation of ... |
OMIM:148050 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Hyphema, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Hypoplastic iliac wing, Absent thumb, Short metacarpal, Ulnar bowing, Ab... |
OMIM:263650 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Pulmonary arterial hypertension, Tapered finger, Small hand, Hip dysplasia, Microphthalmia, Micro... |
OMIM:620005 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Telangiectasia, Forearm reduction defects, Small hand, Congenital hip dislocation, Microphthalmia... |
OMIM:268400 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Sh... |
OMIM:608670 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Microphthalmia, Microcephaly |
OMIM:601675 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Cavum septum pellucidum, Syndactyly, Microcephaly, Hypoplasia of the corpus callosum... |
OMIM:619869 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... |
ORPHA:308552 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Finger syndactyly, Macrocephaly, Clinodactyl... |
OMIM:620025 |
| Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Syndactyly, Micro... |
OMIM:615465 |
| Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Anencephaly, Aplasia/Hypoplasia of the radius, Occi... |
ORPHA:887 |
| Monosomy 9P |
|
Abnormality of the tarsal bones, Microphthalmia, Proximal placement of thumb, Bilateral single tr... |
ORPHA:261112 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Syndactyly, Congenital hip dislocation, Cubitus valgus, Umbilical hernia |
OMIM:104350 |
| Townes-Brocks Syndrome 1 |
|
Triphalangeal thumb, 2-3 toe syndactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the 3rd... |
OMIM:107480 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Orofaciodigital Syndrome Type 1 |
|
Short toe, Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Agenesis of corpus cal... |
ORPHA:2750 |
| Mogs-Cdg |
|
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia |
OMIM:606519 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Clinodactyly, Camptodactyly, Macrocephaly, Syndactyly, Broad thumb, Brac... |
OMIM:616894 |
| Fucosidosis |
|
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial foot polydactyly |
OMIM:619471 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Tapered finger, Finger syndactyly, Talipes equinovarus, Ulnar deviation ... |
ORPHA:2215 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Microcephaly, Phthisis bulbi, Metaphyseal widening, Tibial bowing |
OMIM:259770 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, B... |
ORPHA:93325 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... |
OMIM:600001 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Polydactyly, Short femur, Hypertrophic cardiomyopathy, Abnormal basal gangli... |
ORPHA:17 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Witteveen-Kolk Syndrome |
|
Toe syndactyly, Overlapping toe, Radial deviation of finger, Contracture of the distal interphala... |
OMIM:613406 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Arachnodactyly, Patellar aplasia, Camptodactyly of toe, Camptodactyly, Hip dislocation, Acetabula... |
OMIM:265000 |
| Au-Kline Syndrome |
|
Coxa valga, Hip dysplasia, Deep palmar crease, Clinodactyly of the 5th finger, Hypertension, Syri... |
OMIM:616580 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis |
OMIM:615812 |
| Sclerosteosis 1 |
|
2-3 finger syndactyly, Abnormal pelvic girdle bone morphology, Syndactyly, Deviation of finger, C... |
OMIM:269500 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Pollakisuria |
ORPHA:268 |
| Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe... |
OMIM:216340 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Smith-Lemli-Opitz Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, 2-3 toe syndactyly, Aplasia/Hypoplasia affecting the eye, A... |
ORPHA:818 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the brainstem, Hypoplasia of the retina, Aplasia/Hypoplasia of the corpus callosum,... |
OMIM:253280 |
| Craniofacial Microsomia |
|
Genu valgum, Branchial anomaly, Anophthalmia, Hydrocephalus, Partial duplication of thumb phalanx... |
OMIM:164210 |
| Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Hydrocephalu... |
OMIM:268300 |
| Cat Eye Syndrome |
|
Pulmonic stenosis, Microphthalmia, Umbilical hernia, Absent radius |
OMIM:115470 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Partial duplication of the distal phalanx of the 3rd finger, Toe syndactyly, Radio... |
OMIM:101400 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Short finger, Broad hallux, Microphthalmia, Arachnodactyly, Cubitus valgus |
OMIM:601552 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Spina bifida occulta, Microphthalmia, Phthisis bulbi, Microphakia |
OMIM:612109 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... |
ORPHA:2658 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Nephroblastoma, Hydronephrosis, Splenomegaly, Ventricular septal defect, Transposition of the gre... |
OMIM:312870 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mesoaxial foot polydactyly, Camptodactyly, Clinodactyly of the 5th finger, Broad hallux, Overlapp... |
OMIM:612474 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Hypoplastic pelvis, Slender long bone, Microcephaly |
OMIM:612731 |
| Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of fingers, Upper limb phocomelia, Adactyly, Split hand, Br... |
ORPHA:989 |
| Okamoto Syndrome |
|
Polydactyly, Abnormally large globe, Hip dysplasia, Syringomyelia, Tethered cord, Microcephaly, H... |
ORPHA:2729 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Sp... |
ORPHA:2990 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Syndactyly, Congenital h... |
OMIM:263750 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Toe syndactyly, Synostosis of carpal bones, Macroceph... |
ORPHA:1507 |
| Orofaciodigital Syndrome Xiv |
|
Cerebellar hypoplasia, Simplified gyral pattern, Cerebellar vermis hypoplasia, Broad hallux, Holo... |
OMIM:615948 |
| Bloom Syndrome |
|
Hand polydactyly, Clinodactyly of the 5th finger, Facial telangiectasia in butterfly midface dist... |
OMIM:210900 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Short toe, Finger syndactyly, Toe syndactyly, Bundle b... |
ORPHA:373 |
| Incontinentia Pigmenti |
|
Retinal hemorrhage, Hypoplasia of the fovea, Microphthalmia, Microcephaly |
OMIM:308300 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Moderate albuminuria, Abnorm... |
ORPHA:99885 |
| Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Hallux valgus, Clinodactyly of the 5th finger, Brachydact... |
ORPHA:794 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Clinodactyly of the 5th finger, Broad palm |
OMIM:618505 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Carpenter Syndrome 2 |
|
Coxa vara, Cutaneous finger syndactyly, Short digit, Camptodactyly, Hitchhiker thumb, Aplasia of ... |
OMIM:614976 |
| Phace Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Lens coloboma, Optic nerve hypoplasia, Microc... |
ORPHA:42775 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Polydactyly, Septo-optic dysplasia, Optic nerve hypoplasia, Holoprosencephaly, Abnor... |
ORPHA:95494 |
| Trichothiodystrophy |
|
Cerebral cortical atrophy, Periventricular leukomalacia, Cerebral dysmyelination, Clubbing, Bilat... |
ORPHA:33364 |
| 8Q24.3 Microdeletion Syndrome |
|
Global brain atrophy, Short 5th finger, Short femur, Spina bifida occulta, Optic nerve hypoplasia... |
ORPHA:508488 |
| Degcags Syndrome |
|
Pulmonary arterial hypertension, Polydactyly, Genu valgum, Preaxial hand polydactyly, Toe syndact... |
OMIM:619488 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, Polydactyly, Hypoplasia of the brainstem, Tapered finger, Hallux valgus, Cerebral ... |
ORPHA:268261 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Legius Syndrome |
|
Polydactyly, Paroxysmal atrial tachycardia, Macrocephaly, Clinodactyly of the 5th finger, Pulmoni... |
ORPHA:137605 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Postaxial foot polydactyly, Brachydactyly, Pos... |
ORPHA:2473 |
| Prader-Willi Syndrome |
|
Genu valgum, Small hand, Short foot, Hip dysplasia, Clinodactyly, Syndactyly, Narrow palm, Radial... |
OMIM:176270 |
| Fontaine Progeroid Syndrome |
|
Pulmonary arterial hypertension, Cerebellar hypoplasia, Hydrocephalus, Cerebellar vermis hypoplas... |
OMIM:612289 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Subcortical white matter calcifications, Progressive microcephaly, Subdural h... |
ORPHA:90324 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Narrow joint spa... |
ORPHA:96182 |
| Glycogen Storage Disease Ii |
|
Urinary incontinence, Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
| Townes-Brocks Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplasia/Hypoplasia of the 3rd toe, Toe syndactyly... |
ORPHA:857 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Finger syndactyly, Preaxial foot polydactyly, Hand polydacty... |
ORPHA:2751 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Clinodactyly, Macrocephaly, Hypertension, Syndactyly, Brachydactyly, Postaxial hand ... |
OMIM:613610 |
| Holoprosencephaly 1 |
|
Cerebellar hypoplasia, Alobar holoprosencephaly, Microphthalmia, Microcephaly, Ethmocephaly, Agen... |
OMIM:236100 |
| Neuroocular Syndrome |
|
Tapered finger, Hyperextensibility of the finger joints, Tibial torsion, Periventricular leukomal... |
OMIM:619539 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Radioulnar synostosis, Clinodactyly |
OMIM:248340 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hypoplasia of the ... |
OMIM:175780 |
| Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
| Papillorenal Syndrome |
|
Hypertension, Microphthalmia |
OMIM:120330 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Deviation of the hallux, Avascular necrosis of the capital femoral epiphysis, Hip dy... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Deviation of the hallux, Avascular necrosis of the capital femoral epiphysis, Hip dy... |
ORPHA:353277 |
| Exstrophy-Epispadias Complex |
|
Spina bifida, Hydrocephalus, Microcephaly |
ORPHA:322 |
| Monosomy 22 |
|
Finger syndactyly, Clinodactyly of the 5th finger, Clubbing, Single transverse palmar crease, Mic... |
ORPHA:96123 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Mucopolysacchariduria, Hepato... |
ORPHA:581 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Hip dysplasia, Agenesis of corpus callosum, Talipes equinovarus, Optic nerve h... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Hip dysplasia, Agenesis of corpus callosum, Talipes equinovarus, Optic nerve h... |
ORPHA:352665 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia |
OMIM:153400 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatarsus adductus, Synda... |
OMIM:227330 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Camptodactyly, Clinodactyly of the 5th finger, Synostosis of the p... |
OMIM:309500 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly |
ORPHA:1300 |
| Mosaic Trisomy 16 |
|
Short forearm, Short femoral neck, Clinodactyly, Syndactyly, Single transverse palmar crease, Lar... |
ORPHA:1708 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Macrocephaly, Syndactyly, Secondary microcephaly, Holoprosencephaly, Absent septum pellucidum, Dy... |
OMIM:618820 |
| Cockayne Syndrome |
|
Retinal hemorrhage, Primary microcephaly, Subcortical white matter calcifications, Hypertension, ... |
ORPHA:191 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the brainstem, Tapered finger, Hallux valgus,... |
ORPHA:480880 |
| Mckusick-Kaufman Syndrome |
|
Postaxial hand polydactyly, Syndactyly, Mesoaxial hand polydactyly, Congenital hip dislocation |
OMIM:236700 |
| Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Camptodactyly of finger, Genu valgum, Finger swelling, Periventricular cysts, Joi... |
OMIM:309000 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Tetraamelia Syndrome 1 |
|
Hypoplastic pelvis, Hydrocephalus, Microphthalmia |
OMIM:273395 |
| Adult Syndrome |
|
Toe syndactyly, Split foot, Finger syndactyly |
ORPHA:978 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma |
OMIM:129400 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Cardiomyopathy |
ORPHA:769 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa va... |
ORPHA:3107 |
| Holoprosencephaly 2 |
|
Cerebellar hypoplasia, Semilobar holoprosencephaly, Alobar holoprosencephaly, Holoprosencephaly, ... |
OMIM:157170 |
| Loeys-Dietz Syndrome 2 |
|
Protrusio acetabuli, Joint contracture of the hand, Hydrocephalus, Camptodactyly, Brachydactyly, ... |
OMIM:610168 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Abnormality of the bladder, Hypertrophic cardiomyopathy, Neph... |
ORPHA:904 |
| Peters-Plus Syndrome |
|
Square pelvis bone, Short palm, Short toe, Hydrocephalus, Abnormal pelvic girdle bone morphology,... |
OMIM:261540 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Primary microcephaly, Camptodactyly, Broad hallux, Abnormal corpus callosum morpho... |
ORPHA:261537 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:618278 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Oligodactyly, Sy... |
ORPHA:69085 |
| Fraser Syndrome 3 |
|
Short toe, Hydrocephalus, Cutaneous syndactyly |
OMIM:617667 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Clinodactyly, Corneal ... |
ORPHA:2363 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617666 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
| Cutis Marmorata Telangiectatica Congenita |
|
Abnormality of the upper limb, Finger syndactyly, Toe syndactyly, Short lower limbs, Telangiectas... |
ORPHA:1556 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Bohring-Opitz Syndrome |
|
Nephroblastoma, Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Split foot, Proximal placemen... |
ORPHA:1896 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Bidirectional shunt, Pulmonary arterial hypertension, Aquedu... |
OMIM:619534 |
| Robinow Syndrome |
|
Bifid distal phalanx of the thumb, Radioulnar dislocation, Macrocephaly, Syndactyly, Brachydactyl... |
ORPHA:97360 |
| Doors Syndrome |
|
Triphalangeal thumb, Short 5th finger, Abnormal finger morphology, Aplasia/Hypoplasia of the phal... |
ORPHA:79500 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Scalp-Ear-Nipple Syndrome |
|
2-3 toe syndactyly, Supraventricular tachycardia, Finger syndactyly, 3-4 finger cutaneous syndact... |
OMIM:181270 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Primary microcephaly, Camptodactyly, Broad hallux, Abnormal corpus callosum morpho... |
ORPHA:261552 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Triphalangeal thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Clinodactyly of the 5th fin... |
OMIM:149730 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Oligosacchariduria, Hepatomegaly, Card... |
ORPHA:365 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Diabetes mellitus, Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis |
ORPHA:51 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Noncommunicating hydrocephalus, Heart murmur, Macrocephaly, Radioulnar synostosi... |
OMIM:619325 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Aminoaciduria, Dilatation of the ventricular c... |
OMIM:619991 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
| Proteus Syndrome |
|
Metatarsus valgus, Pulmonary embolism, Sudden cardiac death, Hallux valgus, Abnormal finger morph... |
ORPHA:744 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly, Short foot |
ORPHA:1974 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Finger syndactyly, Abnormal metacarpal morphology, Palmoplantar hyperker... |
ORPHA:2907 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short long bone, Brachydactyly, Short clavicles, Postaxial hand polydactyly, Cone-shaped epiphysi... |
OMIM:617088 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Hip dislocation, Buphthalmos, Microphthalmia, Abnormal metaphysis morphology, Abnorm... |
ORPHA:534 |
| Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly |
ORPHA:14 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Mowat-Wilson Syndrome |
|
Tapered finger, Hallux valgus, Camptodactyly, Broad hallux, Large basal ganglia, Polymicrogyria, ... |
ORPHA:2152 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Clinodactyly of the 5th finger, Arrhythmia, Brachydactyly, Umbilica... |
ORPHA:1519 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Short metacarpa... |
OMIM:150230 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Genu varum, Finger syndactyly |
ORPHA:1969 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Impaired glucose tolerance |
OMIM:256040 |
| Mowat-Wilson Syndrome |
|
Aplasia/Hypoplasia of the cerebral white matter, Abnormal corpus callosum morphology, Microphthal... |
OMIM:235730 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Hypoplasia of the iris, Micropht... |
ORPHA:649 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pericardial effusion, Nephrocalcinosis, Hyperphosphaturia, Cortical neph... |
ORPHA:51608 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Palmoplantar keratoderma, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:1071 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Short 4th metacarpal, Finger syndactyly, Short 5th metacarpal, Palmoplan... |
ORPHA:2908 |
| Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... |
OMIM:182250 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
