Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microphthalmia, Microcephaly, Brachydactyly |
OMIM:233270 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
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 |
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 |
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 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
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 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... |
OMIM:211960 |
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 |
Ovarian Dysgenesis 6 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
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 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
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 |
Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
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 |
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 |
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 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
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 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... |
OMIM:612965 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
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 |
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 |
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 |
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 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
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 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... |
OMIM:273250 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
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 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
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 |
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 |
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 |
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 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
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 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
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 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Anophthalmia, Abnormal finger morphology, Abnormal cortical gyration, Abnormal... |
ORPHA:2538 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla... |
ORPHA:754 |
Gordon Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:376 |
Nail-Patella Syndrome |
|
Biceps aplasia, Patellar hypoplasia, Patellar aplasia, Hypoplastic radial head, Spina bifida, Ili... |
OMIM:161200 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
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 |
Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
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 |
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 |
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 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
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 |
Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
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 |
Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi... |
OMIM:158330 |
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 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
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 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... |
ORPHA:168563 |
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 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Spina bifida, Porencephalic cyst, Clinodactyly of the 5th finger, ... |
ORPHA:1393 |
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 |
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 |
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 |
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 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
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 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... |
OMIM:194072 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
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 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
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 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
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 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Microphthalmia, Cerebellar hypoplasia |
OMIM:613730 |
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 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
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 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Microphthalmia |
ORPHA:48431 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
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 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
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 |
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 |
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 |
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 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus |
OMIM:266810 |
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 |
Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
Holoprosencephaly 9 |
|
Anophthalmia, Abnormal cortical gyration, Hydrocephalus, Optic nerve hypoplasia, Holoprosencephal... |
OMIM:610829 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Tapered finger, Pulmonic stenosis, Anencephaly, Agenesis of corpus callosum, Campt... |
OMIM:619148 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
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 |
Jacobsen Syndrome |
|
Short toe, Finger syndactyly, Spina bifida, Toe syndactyly, Long hallux, Macrocephaly, Hip disloc... |
ORPHA:2308 |
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 |
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 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bottom foot, Bulbo... |
OMIM:304120 |
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 |
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Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
Poland Syndrome |
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Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Triploidy |
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Meningocele, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the corpus callosum, Fin... |
ORPHA:3376 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Hip dysplasia, Cerebellar vermis hypoplasia, Overlapping toe, Microphthalmia, Cerebral atrophy, O... |
OMIM:618494 |
Laurence-Moon Syndrome |
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Polydactyly, Abnormality of the hand |
OMIM:245800 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida, Hip dislocation, Abnormality of tibia morphology, Abnormality of ... |
ORPHA:93929 |
Adams-Oliver Syndrome 1 |
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