Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Tessier number 4 facial cleft, Microphthalmia, Cleft palate, Deep palmar crease |
OMIM:600251 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
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 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Neural tube defect, Microphthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Small hand, Facial cleft, Hypodontia, Advanced eruption of teeth, Clinodactyly of ... |
ORPHA:952 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Microphthalmia, Brachydactyly |
OMIM:233270 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Facial cleft, Abnormality of the h... |
ORPHA:1794 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Facial cleft, Broad proximal phalanges of the hand, Opt... |
OMIM:607597 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Anophthalmia, Facial cleft, Spina bifida, Deviation of finger, Cleft palat... |
ORPHA:1104 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Cerebrooculonasal Syndrome |
|
High palate, Anophthalmia, Facial cleft, Widely spaced teeth, Long philtrum, Microdontia, Solitar... |
ORPHA:66625 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Facial cleft, Bilateral cleft lip, Sh... |
OMIM:601357 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Syndactyly, Cleft palate, Abnormal hip bone morphology |
ORPHA:294975 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Facial cleft, Narrow mouth, Cleft palate, ... |
OMIM:239800 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... |
OMIM:311895 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger ... |
ORPHA:2935 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Facial cleft, Clinodactyly of the 5th finger, Brachydactyly, Spina... |
ORPHA:1786 |
Frontonasal Dysplasia 3 |
|
Cleft palate, Microphthalmia, Facial cleft |
OMIM:613456 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Mmep Syndrome |
|
Triphalangeal thumb, Median cleft lip, Split foot, Microphthalmia, Orofacial cleft |
ORPHA:3434 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... |
ORPHA:1617 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Rocker bottom foot, Cleft palate, Intrauterine growth retardation, Talipes equino... |
OMIM:616570 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, Widely spaced teeth, 2-3 finger syndactyly, Microdontia, 2-4 finge... |
OMIM:225280 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th... |
ORPHA:3268 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Cleft palate, Orofacial cleft, Facia... |
ORPHA:1505 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... |
DECIPHER:46 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Single transverse palmar crease, ... |
OMIM:617927 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Disorganization, Mouse, Homolog Of |
|
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate |
OMIM:223200 |
Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Facial cleft, Hand polydactyly, Syndactyly, Cleft palate, Talipes... |
OMIM:217100 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Facial cleft, Wide mouth, Hand polydactyly, Congenital hip dislocation, Aplasi... |
ORPHA:1647 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly |
OMIM:615984 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... |
ORPHA:3104 |
Gordon Syndrome |
|
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Cleft pa... |
ORPHA:376 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... |
OMIM:614034 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly |
OMIM:615938 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, High palate, Elbow flexion c... |
OMIM:619110 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Encephalocele, Facial cleft, Microphthalmia, Cleft palate |
ORPHA:1791 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Abnormal palate morph... |
ORPHA:1236 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate |
OMIM:300484 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Split foot, Microphthalmia, Widely-spaced maxillary central incisors, Cleft pala... |
OMIM:601349 |
Charlie M Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Abnormal metacarpal morphology, Sh... |
ORPHA:1406 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydact... |
OMIM:611561 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... |
OMIM:615297 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Cleft palate, Split foot, Split hand |
OMIM:183700 |
3Mc Syndrome 3 |
|
Cleft upper lip, Facial cleft, Clinodactyly, Radioulnar synostosis, Preaxial polydactyly, Cleft p... |
OMIM:248340 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, High palate, Facial cleft, Spina bifida, Hip dislocation, Elbow dislocat... |
ORPHA:99776 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Encephalocele, Patellar hypoplasia, Midline facial cle... |
OMIM:603671 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones |
OMIM:600384 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Microphthalmia, Pos... |
OMIM:603194 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate |
ORPHA:2432 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Abnormality of the dentition, Brachydactyly |
OMIM:615982 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... |
OMIM:258860 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Encephalocele, Aplasia/Hypoplasia of the radius, Microphthalmia, Split han... |
ORPHA:2117 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Encephalocele, Anophthalmia, Microphthalmia, Cleft palate, Occipita... |
OMIM:613885 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... |
OMIM:136760 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft |
OMIM:611638 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Cleft palate, Genu valgum, Flexion contracture of ... |
ORPHA:2712 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormally large globe, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviat... |
ORPHA:363417 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Wide mouth, Clinodactyly, Microphthalmia, Cleft palate |
OMIM:619981 |
Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... |
OMIM:615415 |
Mycophenolate Mofetil Embryopathy |
|
Facial cleft, Foot polydactyly, Tracheoesophageal fistula, Microphthalmia, Short palm, Orofacial ... |
ORPHA:268249 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Postaxia... |
ORPHA:380 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Oligodontia, Clinodactyly, Brachydactyly, Syndactyly,... |
OMIM:600325 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Hypoplastic iliac wing, Absent thumb, Cleft upper lip, Anal stenosis, Sh... |
OMIM:263650 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,... |
OMIM:603543 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Short metacarpal, Deep philtrum, Microdontia, Clinodactyly, Radioulnar synostosis, Ca... |
OMIM:605282 |
Pierpont Syndrome |
|
Short toe, Widely spaced teeth, Short finger, Everted lower lip vermilion, Thin upper lip vermili... |
ORPHA:487825 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip, Hand polydactyly |
OMIM:236110 |
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 |
Pierpont Syndrome |
|
Short toe, Short foot, Prominent median palatal raphe, Widely spaced teeth, Short finger, Everted... |
OMIM:602342 |
Temtamy Syndrome |
|
Short toe, Genu varum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal palate... |
ORPHA:1777 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Intra... |
OMIM:615665 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Spindle-shaped finger, Triangular mouth, Cutaneous syndactyly, Delayed... |
ORPHA:166024 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cranium bifidum occultum, Facial cleft, Pectoral muscle hypoplasia/aplas... |
ORPHA:306542 |
Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic gir... |
ORPHA:2725 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:120433 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Accessory oral frenulum, ... |
OMIM:300244 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal... |
OMIM:157900 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Microphthalmia, Cleft palate |
ORPHA:261272 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
Mohr Syndrome |
|
Lobulated tongue, Metaphyseal irregularity, Preaxial hand polydactyly, Bifid tongue, High palate,... |
OMIM:252100 |
Treacher-Collins Syndrome |
|
Cleft upper lip, Encephalocele, High palate, Facial cleft, Wide mouth, Abnormality of the dentiti... |
ORPHA:861 |
Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Intestinal malrot... |
ORPHA:1553 |
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 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Narrow mouth, High palate, Microphthalmia |
ORPHA:2528 |
Triopia |
|
Cleft palate, Midline facial cleft, Encephalocele, Median cleft lip |
ORPHA:3374 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Abnormality of dent... |
ORPHA:2251 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... |
OMIM:269200 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Abnormal morphology of the radius, Microphthalmia |
ORPHA:3469 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... |
OMIM:617926 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Clef... |
ORPHA:1106 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Bartsocas-Papas Syndrome 2 |
|
Small hand, 2-5 finger cutaneous syndactyly, Microphthalmia, Absent distal phalanges, Accessory o... |
OMIM:619339 |
Monosomy 5P |
|
Finger syndactyly, High palate, Intrauterine growth retardation, Small hand |
ORPHA:281 |
Eem Syndrome |
|
Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of den... |
ORPHA:1897 |
Joubert Syndrome 18 |
|
Lobulated tongue, Postaxial polydactyly, Arrhinencephaly, Camptodactyly, Cleft palate, Occipital ... |
OMIM:614815 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Microphthalmia |
ORPHA:141333 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Long philtrum, Finger syndactyly, Wide mouth, Deep philtrum, Abnormality of the wrist, Abnormal t... |
ORPHA:1825 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Microphthalmia, Smooth philtrum |
OMIM:602501 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... |
ORPHA:971 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... |
OMIM:113000 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Synostosis of carpal bones, Abnormal metacarpal morphology, Olig... |
ORPHA:90650 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Polysplenia, Abdominal situs inversus |
OMIM:605376 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Talon cusp, Dental malocclusion, Narrow palate, Short first metatarsal, High palat... |
OMIM:613684 |
Filippi Syndrome |
|
Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, Single transverse palm... |
OMIM:272440 |
Hypomelanosis Of Ito |
|
Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Syndactyly, Radial deviation of finger... |
OMIM:300337 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Microphthalmia, Cleft palate |
OMIM:164180 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Cofs Syndrome |
|
Camptodactyly of finger, Everted lower lip vermilion, Microphthalmia, Intrauterine growth retarda... |
ORPHA:1466 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Meckel Syndrome, Type 10 |
|
Anencephaly, Bifid uvula, Camptodactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, ... |
OMIM:614175 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, High palate, Short long bone, Short lingual frenulum, Microdontia, Flat acetabular r... |
OMIM:614091 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Wide mouth, Short philtrum, Mic... |
ORPHA:163966 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Cleft soft palate, Long philtrum, Metatarsa... |
ORPHA:2756 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Flat acetab... |
OMIM:617102 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, High palate, Clinodactyly of the 5th finger, Upper limb asymmetry, Dental crowding |
ORPHA:231140 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Everted lowe... |
OMIM:619736 |
Anencephaly 2 |
|
Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft lip, Median cleft palate |
OMIM:619452 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... |
ORPHA:1856 |
Meckel Syndrome, Type 3 |
|
Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Occipital ence... |
OMIM:607361 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short philtrum, Downturned corners of mouth, Microphthalmia, Proximal placement of thumb, Abnorma... |
ORPHA:93267 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Joubert Syndrome 10 |
|
Deep philtrum, Postaxial polydactyly, Thick vermilion border |
OMIM:300804 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, High palate, Long philtrum, Flat acetabular roof, Hemiatrop... |
ORPHA:163649 |
Fraser Syndrome 1 |
|
Difficulty in tongue movements, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphol... |
OMIM:219000 |
Hydrolethalus |
|
Anophthalmia, Gingival cleft, Anencephaly, Arrhinencephaly, Bifid uvula, Submucous cleft hard pal... |
ORPHA:2189 |
3P25.3 Microdeletion Syndrome |
|
Tapered finger, Deep philtrum, 2-3 finger syndactyly, Pyloric stenosis, Short philtrum, Congenita... |
ORPHA:435638 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Abnormal thumb morphology |
OMIM:614082 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Hand oligodactyly, Solitary... |
OMIM:602418 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th finger, Everted ... |
ORPHA:1515 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Hydrolethalus Syndrome 2 |
|
Preaxial foot polydactyly, Anencephaly, Postaxial foot polydactyly, Postaxial hand polydactyly, C... |
OMIM:614120 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Right Atrial Isomerism |
|
Asplenia, Polysplenia, Abdominal situs ambiguus |
OMIM:208530 |
Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Anal atresia, Intrauterine growth retardation |
ORPHA:195 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Coxa valga, Hallux valgus, Cleft palate, Contracture of the distal interphalangeal j... |
OMIM:216800 |
Ring Chromosome 10 Syndrome |
|
Tapered finger, Long philtrum, Aganglionic megacolon, Microphthalmia, Sandal gap, Thin vermilion ... |
ORPHA:1438 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Flat capital femoral epiphysis, Sh... |
OMIM:147891 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Long philtrum, Deep philtrum, Bifid uvula, Abnormal oral frenulum morphology,... |
ORPHA:404440 |
Sclerosteosis |
|
2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thickening, Finger syndactyly |
ORPHA:3152 |
Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Anencephaly, Microphthalmia, Postaxial hand polydactyly, Cleft palate... |
OMIM:611134 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Intrauterine growth retardation, Talipes equinovarus |
OMIM:616171 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cutaneous finger syndactyly, Cutaneous syndactyly o... |
OMIM:225060 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Broad thumb, Microphthalmia, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, Accessory oral frenul... |
ORPHA:88630 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia |
ORPHA:2440 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Short femur, Radial deviation of finger, Postaxial hand polydactyly, Cleft palate... |
OMIM:277170 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, High palate, Long philtrum, Thick lower lip vermilion, Hip dislocation, Clinodactyly ... |
OMIM:619451 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proxima... |
ORPHA:139471 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Chronic active hepatitis |
OMIM:240300 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Tooth agenesis, High palate, Microphthalmia, Cleft palate |
ORPHA:1135 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Arachnodactyly, Sh... |
ORPHA:2994 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Long philtrum, Thin upper lip vermilion, Downturned corners of mouth, Sandal gap, Smooth philtrum... |
OMIM:615761 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Widely spaced teeth, Microdontia, Camptodactyly, Down-sloping shoulders, Microphthalmia, Cubitus ... |
OMIM:619694 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:614402 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly |
ORPHA:64754 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion contracture, Absent... |
ORPHA:1692 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Spina bifida, ... |
ORPHA:2839 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Short foot, Finger syndactyly, Small hand, Delayed erup... |
ORPHA:915 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Long philtrum, Clinodactyly of the 5th finger, Short philtrum, Thin upper lip vermil... |
OMIM:301022 |
Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene... |
OMIM:311300 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Short 3rd metaca... |
OMIM:169400 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Microphthalmia, Orofacial cleft |
ORPHA:324416 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, High palate, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5t... |
ORPHA:1520 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Tapered finger, Clinodactyly of the 5th finger |
OMIM:618725 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus |
OMIM:619123 |
Trisomy 13 |
|
Anophthalmia, Long philtrum, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle bone morpholo... |
ORPHA:3378 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Syndactyly, Palmoplantar keratoderma, Thin upper lip vermilion |
OMIM:613576 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Camptodactyl... |
OMIM:175700 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Small hand, Long philtrum, Delayed eruption of teeth, 4-5 finger syndactyly,... |
OMIM:257850 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
Blepharocheilodontic Syndrome 2 |
|
Conical tooth, Tooth agenesis, Cutaneous syndactyly, Cleft lip |
OMIM:617681 |
Cousin Syndrome |
|
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... |
OMIM:260660 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tapered finger, Delayed eruption of teeth, Camptodactyly, Overlapping toe, G... |
OMIM:619148 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Sandestig-Stefanova Syndrome |
|
High palate, Clinodactyly, Camptodactyly, Microphthalmia, Bilateral single transverse palmar crea... |
OMIM:618804 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Cone-shaped epiphysis, Postaxial polydactyly, Bifid tongue, Short long bone, Abs... |
OMIM:613091 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:291 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Epiphyseal dysplasia, Flattened epiphysis... |
OMIM:607131 |
Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
Frontonasal Dysplasia 2 |
|
Conical tooth, Encephalocele, Widely spaced teeth, Tessier number 13 facial cleft, Microphthalmia... |
OMIM:613451 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Clinodactyly, Br... |
OMIM:618727 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... |
ORPHA:93307 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Lip pit, 2-3 finger syndactyly, Preaxial foot polydactyly, Lipomyelome... |
OMIM:601707 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia, Duode... |
ORPHA:2547 |
Hemifacial Microsomia With Radial Defects |
|
Triphalangeal thumb, Non-midline cleft lip, Complete duplication of thumb phalanx, Cleft palate, ... |
OMIM:141400 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microphthalmia, Postaxial hand polydactyly, Cleft ... |
ORPHA:85284 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Postaxial foot polydactyly |
OMIM:617119 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Thin vermilion border, Narrow mouth, Microphthalmia |
OMIM:600118 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Slender long bone... |
OMIM:610758 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Thin upper lip vermilion, Smooth philtrum, Brachyda... |
ORPHA:313781 |
3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Microphthalmia, S... |
ORPHA:251038 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping, Metaphyseal cupping of proximal phalanges, Microphth... |
OMIM:300863 |
Tarp Syndrome |
|
Short sternum, Postaxial polydactyly, High palate, Glossoptosis, Tongue nodules, Hypoplasia of th... |
OMIM:311900 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Everted lower lip vermilion, Ectrodactyl... |
ORPHA:251014 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, 3-4 finger cutaneous syndactyly... |
OMIM:612530 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, High palate, Finger syndactyly, Hip dysplasia,... |
ORPHA:710 |
Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Tapered finger, High palate, Long philtrum, Macular hypoplasia, Anal atresia, Overlapping toe, Th... |
OMIM:613792 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial devia... |
OMIM:186500 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Clinodactyly of the 5th finger, Syndactyly, Small placenta, Intrau... |
ORPHA:397590 |
Weaver Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Long philtrum, Deep philtrum, Broad thumb, Sandal gap... |
ORPHA:3447 |
Suleiman-El-Hattab Syndrome |
|
Polydactyly, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly, Thi... |
OMIM:618950 |
Cohen Syndrome |
|
Genu valgum, Aplasia/Hypoplasia of the tongue, Tapered finger, Finger syndactyly, High, narrow pa... |
ORPHA:193 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... |
OMIM:615777 |
Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Toe syndactyly, Bifid uvula, Abnormal oral frenulum ... |
OMIM:200990 |
Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Clinodactyly, Anal atresia, Cutan... |
OMIM:119580 |
Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Clinodactyly of the 5th ... |
OMIM:244300 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Preaxial polydactyly, Overlapping fingers, Bilateral talipes equino... |
OMIM:618142 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Intrauterine growth retardation, Hypoplastic ischia |
OMIM:616910 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Abnormal tongue physiology, Wide mouth, Narrow mouth, Thin vermilion border, Postaxi... |
ORPHA:544254 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Enamel hypoplasia, Cutaneous finger syndactyly, Widely spaced teeth, 2-4 finger sy... |
OMIM:613573 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
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 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Clinodactyly, Microphthalmia, Prox... |
OMIM:617883 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky... |
OMIM:174300 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle ... |
ORPHA:3429 |
Monosomy 18P |
|
Hypodontia, Short philtrum, Downturned corners of mouth, Microphthalmia, Brachydactyly, Carious t... |
ORPHA:1598 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, High palate, Short foot, Finger syndactyly, Toe syndactyly, Shor... |
ORPHA:93258 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly, Camptodactyly, Short philtrum, Overlapping toe, Broad hallux, Syndactyly, Protrudin... |
OMIM:300963 |
Teebi-Shaltout Syndrome |
|
Wide mouth, High, narrow palate, Caudal appendage, Talipes equinovarus, Camptodactyly, Oligodonti... |
OMIM:272950 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... |
OMIM:169550 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
2-3 toe syndactyly, Deep philtrum, Short philtrum, Single transverse palmar crease, Microphthalmi... |
OMIM:620098 |
Marden-Walker Syndrome |
|
High palate, Long philtrum, Joint contracture of the hand, Pyloric stenosis, Camptodactyly, Radio... |
OMIM:248700 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Long philtrum, High, narrow palate, Hip dysplasia, Overlapping toe, Thin upper lip vermilion, Ant... |
OMIM:618494 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Finger syndactyly, Anal atresia, Carious teeth, Bilateral cleft lip and palate |
ORPHA:1997 |
Orofaciodigital Syndrome Ix |
|
Short tibia, High palate, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Acce... |
OMIM:258865 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Short femoral neck, Coxa vara, Long philtrum, Velopharyngeal insufficiency, R... |
OMIM:614701 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... |
OMIM:609945 |
Temtamy Syndrome |
|
Long philtrum, Hip dislocation, Short 2nd toe, Microphthalmia, Brachydactyly, Dental crowding, Hy... |
OMIM:218340 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Coxa valga, Long philtrum, Joint contracture of the hand, Delayed eruption of teeth, Elbow flexio... |
OMIM:214150 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Abnormal pelvis bone ossification, Abnormal pelv... |
ORPHA:166119 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Lens coloboma, Sandal gap, Joint contracture of the 5th finger, Brachydactyly... |
OMIM:618914 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Broad hallux, Thin upper lip vermilion, Te... |
OMIM:600987 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate, Short humerus |
OMIM:191000 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Pi... |
ORPHA:364577 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Hypodontia, Radioulnar synostosis, Hypoplasia of the... |
OMIM:212780 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Microphthalmia |
OMIM:300915 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Oligodactyly, Narrow mouth, Microphthalmia, A... |
OMIM:251230 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Postaxial polydactyly |
OMIM:619142 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Lobulated tongue, Encephalocele, Bifid tongue, Natal tooth, Short long bone, Flat ac... |
OMIM:616300 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Brachydactyly, Cleft palate, Intrauterine growth retardation |
ORPHA:2145 |
Roberts Syndrome |
|
Wrist flexion contracture, Phocomelia, Radial deviation of finger, Cleft palate, Synostosis of ca... |
ORPHA:3103 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Long philtrum, Short philtrum, Broad hallux, Single transverse palmar crease, Microp... |
OMIM:614105 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... |
ORPHA:59315 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
6P22 Microdeletion Syndrome |
|
Abnormal palate morphology, Clinodactyly, Finger syndactyly |
ORPHA:251046 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Widely spaced teeth, Clinodactyly, Camptodactyly, Macroglossia, Syndacty... |
ORPHA:369891 |
Baraitser-Winter Syndrome 2 |
|
Long philtrum, Wide mouth, Thin upper lip vermilion, Microphthalmia, Orofacial cleft |
OMIM:614583 |
Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Preaxial hand polydactyly, Bifid tongue, Long philtrum, Facial cleft, Ectopic an... |
ORPHA:93271 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Syndactyly, Pyloric stenosis, Carious teeth |
OMIM:226700 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Taurodontia, Abnormal oral frenulum morphology... |
ORPHA:2751 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Dental malocclusion, Short metacarpal, Delayed eruption of t... |
ORPHA:2980 |
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, Hi... |
OMIM:608670 |
Nance-Horan Syndrome |
|
Supernumerary tooth, Microphthalmia, Short metacarpal, Abnormality of the dentition |
ORPHA:627 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry m... |
OMIM:302350 |
Myoclonic-Astatic Epilepsy |
|
Long philtrum, Wide mouth, Thick lower lip vermilion, Syndactyly, Thin upper lip vermilion, Micro... |
ORPHA:1942 |
Joubert Syndrome 16 |
|
Polydactyly, Encephalocele |
OMIM:614465 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... |
ORPHA:3320 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615994 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Optic disc... |
OMIM:607323 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Short toe, Broad femoral neck, Tooth malposition, High palate, Avascular... |
OMIM:212720 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th finger, A... |
ORPHA:1352 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Camptodactyly, Syndactyly, Narrow mouth, Intestinal lymphangiectasia |
OMIM:616006 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Feingold Syndrome 1 |
|
Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Mesoaxial polydactyly, Hand poly... |
ORPHA:2754 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, High palate, Finger syndactyly, Humeroradial synostosis, Elbow ankyl... |
OMIM:101600 |
Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
Kbg Syndrome |
|
Long philtrum, Oligodontia, Thin upper lip vermilion, Single transverse palmar crease, Widely-spa... |
ORPHA:2332 |
1Q21.1 Microdeletion Syndrome |
|
High palate, Long philtrum, Toe syndactyly, Foot polydactyly, Ankyloglossia, Hand polydactyly, Cl... |
ORPHA:250989 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Widely spaced teeth, Arachnodactyly |
OMIM:619092 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger |
OMIM:601163 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Joint contracture of the hand, Hip dysplasia, Camptodactyly, Downturned co... |
OMIM:611961 |
8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, High palate, Finger syndactyly, Abnormal metacarpal morphology, Short ph... |
ORPHA:284160 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Natal tooth, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Ta... |
OMIM:609638 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal ... |
ORPHA:2475 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Finger syndactyly, Clinodactyly, Short philtrum, Broad distal phalanx of the ... |
ORPHA:464738 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Small hand, Long philtrum, Bifid uvula, Thin upper lip vermilion, Microphthalmia, Sev... |
OMIM:241410 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Short 5th finger, Short foot, Hyperextensibility of the finger joints, Hypodonti... |
OMIM:305400 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
Kury-Isidor Syndrome |
|
High palate, Finger syndactyly, Long philtrum, Widely spaced teeth, Hip dysplasia, Brachydactyly,... |
OMIM:619762 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Jejunal atresia, Aplasia/Hypopl... |
ORPHA:989 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Oculodentodigital Dysplasia |
|
Enamel hypoplasia, Cleft upper lip, High palate, Short middle phalanx of the 5th finger, Selectiv... |
OMIM:164200 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
Triploidy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Finger syndactyly, Wide... |
ORPHA:3376 |
Frontorhiny |
|
Camptodactyly of finger, Encephalocele, Cranium bifidum occultum, Bifid tongue, Basal encephaloce... |
ORPHA:391474 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty... |
ORPHA:959 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, ... |
ORPHA:2788 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Chromosome 8Q21.11 Deletion Syndrome |
|
High palate, Short metacarpal, Camptodactyly, Absent palmar crease, Short philtrum, Syndactyly, D... |
OMIM:614230 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Short philtrum, Tented upper lip vermilion, Microphthalmia, Cleft pal... |
OMIM:614424 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Pfeiffer Syndrome Type 2 |
|
High palate, Finger syndactyly, Small hand, Toe syndactyly, Anal atresia, Intestinal malrotation,... |
ORPHA:93259 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly... |
ORPHA:570 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Lissencephaly 8 |
|
Occipital encephalocele, Microphthalmia, Talipes equinovarus |
OMIM:617255 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Narrow palate, Finger syndactyly, Synostosis of carpal bones, Narrow mou... |
ORPHA:1323 |
Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly |
OMIM:614615 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Microphthalmia, Intrauterine growth retardation, Rocker bottom foot |
OMIM:610756 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Tapered finger, Long philtrum, Clinodactyly of the 5th finger, Broad thumb, Arachnod... |
OMIM:619721 |
Joubert Syndrome 37 |
|
High palate, Microphthalmia, Postaxial polydactyly |
OMIM:619185 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Long philtrum, Wide mouth, Duplication of phalanx of hallux, Thin upper lip verm... |
OMIM:243310 |
Blepharonasofacial Malformation Syndrome |
|
Non-midline cleft lip, Long philtrum, Finger syndactyly, Tooth agenesis, Cleft palate |
ORPHA:1252 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Intestinal malrotation, Thin... |
OMIM:617866 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Microdontia, Thin upper lip vermilion, Microphthalmia, Smooth philtrum, Cl... |
ORPHA:1915 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip, Absent radius |
OMIM:179400 |
Bartsocas-Papas Syndrome |
|
Absent thumb, Finger syndactyly, Toe syndactyly, Median cleft lip, Narrow mouth, Aplasia/Hypoplas... |
ORPHA:1234 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Flared iliac wing, Elbow dislocation, Short hallux, Cleft palate, Short ... |
ORPHA:90652 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Widely spaced teeth, Microdontia, Microphthalmia, Cleft palate, ... |
ORPHA:2728 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Oliver Syndrome |
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Camptodactyly of finger, Short toe, Dental malocclusion, High palate, Cutaneous finger syndactyly... |
ORPHA:2920 |
Meckel Syndrome |
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Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cystic liver disease, Congenit... |
ORPHA:564 |
Joubert Syndrome 23 |
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Polydactyly |
OMIM:616490 |
Laurence-Moon Syndrome |
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Brachydactyly, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
Acrofrontofacionasal Dysostosis 2 |
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High palate, Hand polydactyly, Broad hallux, Syndactyly, Broad thumb |
OMIM:239710 |
Pallister-Hall Syndrome |
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Mesoaxial foot polydactyly, Cleft upper lip, Short 4th metacarpal, Natal tooth, Toe syndactyly, H... |
OMIM:146510 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Brachydactyly, Postaxial polydactyly, Short long bone |
OMIM:615633 |
Endocrine-Cerebroosteodysplasia |
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Thick upper lip vermilion, Median cleft palate, Natal tooth, Bilateral cleft lip, Talipes equinov... |
OMIM:612651 |
Congenital Rubella Syndrome |
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Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology, Microphthalmia, Intrauterine grow... |
ORPHA:290 |
Postaxial Acrofacial Dysostosis |
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Camptodactyly of finger, Non-midline cleft lip, Finger syndactyly, Hypoplasia of the radius, Hypo... |
ORPHA:246 |
Laurence-Moon Syndrome |
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