Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis... |
OMIM:256200 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Sprengel Deformity |
|
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... |
ORPHA:3181 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Nuchal Bleb, Familial |
|
Stillbirth, Cystic hygroma, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis |
ORPHA:295 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion |
OMIM:619462 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Micromelia, Polyhydramnios, Fetal ascites, Squared iliac bones, Flared metaphysi... |
OMIM:215045 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Cleft hard palate, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth, Polyhydramnios |
OMIM:613124 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death |
OMIM:276822 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... |
ORPHA:2756 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor... |
ORPHA:3405 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate |
ORPHA:2521 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,... |
ORPHA:957 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Diffuse Neonatal Hemangiomatosis |
|
Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites |
ORPHA:2123 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Congenital Heart Block |
|
Premature birth, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edem... |
ORPHA:60041 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Micromelia, Hypoplastic ilia, Breech presentation, Edema, Hydrops fetalis, Stillb... |
OMIM:600972 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis |
OMIM:619433 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Coarctation of aorta, Biventricular hypertrophy, Atrial septal defect |
ORPHA:101028 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... |
ORPHA:971 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... |
OMIM:618779 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, Hydrops fetali... |
OMIM:601927 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal limb bone morphology, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Thick lower lip vermilion, Gingival overgrowth, Abs... |
OMIM:618658 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Postaxial polydactyly |
OMIM:615985 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Cardiomyopathy, Redundant neck skin, Nonimmune hydrops fetalis |
OMIM:619003 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence |
OMIM:618815 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
Infantile Sialic Acid Storage Disease |
|
Premature birth, Cardiomegaly, Hydrops fetalis, Ascites, Metaphyseal irregularity |
OMIM:269920 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... |
OMIM:620107 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic sten... |
OMIM:249670 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Short neck, Hydrops fetalis, Short foot, ... |
ORPHA:93298 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Short neck, Hydrops fetalis, Short foot, ... |
ORPHA:93299 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Ventricular septal defect, Polyhydramnios, Decreased fibular diame... |
OMIM:616897 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, T... |
OMIM:618529 |
Klippel-Trénaunay Syndrome |
|
Edema, Patent ductus arteriosus, Hydrops fetalis, Upper limb asymmetry, Abnormal tricuspid valve ... |
ORPHA:90308 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis |
OMIM:608540 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Achondrogenesis |
|
Thickened nuchal skin fold, Polyhydramnios, Micromelia, Short neck, Hydrops fetalis, Umbilical he... |
ORPHA:932 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate |
OMIM:607361 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... |
ORPHA:85166 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent... |
ORPHA:1350 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... |
OMIM:618142 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Fetal akinesi... |
OMIM:617022 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Polyhydramnios, Edema, Hydrops fetalis, Cardiomyopathy, Ascites |
OMIM:232500 |
Mulibrey Nanism |
|
Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Pericardial ... |
OMIM:253250 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Neuraminidase Deficiency |
|
Bone-marrow foam cells, Cardiomegaly, Facial edema, Hydrops fetalis, Epiphyseal stippling, Cardio... |
OMIM:256550 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Polyhydramnio... |
ORPHA:261344 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, Hy... |
ORPHA:1865 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... |
OMIM:618052 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Acetabular erosions, Bifid uvula, Finger joint hypermobility |
OMIM:601492 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... |
OMIM:616331 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate |
OMIM:201550 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Talip... |
OMIM:614815 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Mosaic Trisomy 9 |
|
Micromelia, Polyhydramnios, Short neck, Hydrops fetalis, Finger clinodactyly, Endocardial fibroel... |
ORPHA:99776 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate |
OMIM:614120 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... |
OMIM:141400 |
Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
Trisomy 13 |
|
Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Hydrops fetalis,... |
ORPHA:3378 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Short... |
OMIM:269250 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu... |
ORPHA:2804 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... |
OMIM:617405 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi... |
OMIM:114300 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, High palate, Short philtrum, Submuco... |
OMIM:612292 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... |
OMIM:619142 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial polydactyly, Tapered f... |
OMIM:619721 |
Achondrogenesis, Type Ii |
|
Broad long bones, Edema, Short tubular bones of the hand, Polyhydramnios, Hydrops fetalis, Short ... |
OMIM:200610 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Abnormality of ... |
ORPHA:2010 |
Polydactyly-Myopia Syndrome |
|
Postaxial hand polydactyly |
ORPHA:2917 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Cleft palate, Tapered finger |
OMIM:181180 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Sialidosis Type 2 |
|
Umbilical hernia, Ascites, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Postaxial polydactyly |
OMIM:618955 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping finge... |
OMIM:616738 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... |
OMIM:617021 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly |
OMIM:615937 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos... |
OMIM:614175 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... |
OMIM:603194 |
Schilbach-Rott Syndrome |
|
2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narro... |
OMIM:164220 |
Stickler Syndrome, Type Ii |
|
Arachnodactyly, Long fingers, High, narrow palate, Pierre-Robin sequence, Cleft palate, Bifid uvula |
OMIM:604841 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li... |
OMIM:617412 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pol... |
OMIM:200600 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
Congenital Enterovirus Infection |
|
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... |
ORPHA:292 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Broad thumb, Short finger |
OMIM:300209 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Cleft palate, Cleft upper lip |
OMIM:613885 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Sing... |
OMIM:620244 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin... |
OMIM:615503 |
Greenberg Dysplasia |
|
Micromelia, Polyhydramnios, Hydrops fetalis, Tetraphocomelia, Hypoplasia of the calcaneus, Neonat... |
OMIM:215140 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered finger, Overlapping... |
ORPHA:435638 |
Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp... |
ORPHA:2496 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
Mohr Syndrome |
|
Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ... |
OMIM:252100 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Premature birth, Patent ductus arteriosus, Hy... |
ORPHA:354 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip |
ORPHA:2476 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetalis, Clubbing of toes, Oligohydramn... |
ORPHA:1318 |
Alg8-Cdg |
|
Premature birth, Edema, Hydrops fetalis, Oligohydramnios, Talipes equinovarus, Camptodactyly, Asc... |
ORPHA:79325 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Stillbirth, Neonatal death |
ORPHA:85212 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... |
ORPHA:544254 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short distal phalanx of finger |
OMIM:609166 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618839 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Palmar telangiectasia, Ple... |
ORPHA:69735 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Fetal pleural effusion,... |
OMIM:620167 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Buratti-Harel Syndrome |
|
Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb... |
OMIM:619314 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Intestinal malrotation, Ve... |
OMIM:614701 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd... |
OMIM:235510 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Metatarsus adductus, Short neck, Hydrops fetalis, Epiphyseal stippling, Abnormal hip ... |
ORPHA:584 |
Hydrolethalus |
|
Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Cleft palate... |
ORPHA:2189 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Polyhydramnios, Short neck, Preaxial polyda... |
OMIM:616546 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Free Sialic Acid Storage Disease |
|
Ascites, Abnormality of the upper limb, Hydrops fetalis |
ORPHA:834 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ... |
OMIM:618950 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect, Overlapping toe, Postaxial polydactyly, Tapered finger |
OMIM:613792 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A |
ORPHA:1003 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Short neck, Metatarsus adductus, Hydrops fetalis, Genu valgum, C... |
OMIM:253220 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... |
ORPHA:404440 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis... |
OMIM:263520 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i... |
OMIM:615994 |
Gm1-Gangliosidosis, Type I |
|
Abnormal heart valve morphology, Short neck, Dilated cardiomyopathy, Hydrops fetalis, Hypertrophi... |
OMIM:230500 |
Cree Mental Retardation Syndrome |
|
Cutaneous finger syndactyly, Rocker bottom foot, Cleft soft palate |
OMIM:606851 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac... |
OMIM:607131 |
Long Qt Syndrome 3 |
|
Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:603830 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Abnor... |
ORPHA:367 |
Hogue-Janssen Syndrome 2 |
|
Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly |
OMIM:616362 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Abnormal ti... |
ORPHA:2879 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Alg9-Cdg |
|
Short neck, Hydrops fetalis, Right ventricular dilatation, Narrow greater sciatic notch, Abnormal... |
ORPHA:79328 |
Gm1 Gangliosidosis Type 1 |
|
Hydrops fetalis, Cardiomyopathy, Flared iliac wing, Short long bone, Abnormal placenta morphology... |
ORPHA:79255 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi... |
ORPHA:397590 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly |
OMIM:602501 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Coarctation of aorta, Foot polydactyly, Short palm |
ORPHA:268249 |
Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... |
ORPHA:79329 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Tibial bowing,... |
OMIM:166210 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Premature birth, Aplastic cl... |
ORPHA:50945 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
Culler-Jones Syndrome |
|
Cleft palate, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormality of the dentition, Submucous c... |
ORPHA:178303 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Abnormality of the amniotic fluid, Dilated cardiomyopathy, Hydrops fetalis |
OMIM:609015 |
Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Meier-Gorlin Syndrome 5 |
|
Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Submucous cleft hard palate, Sl... |
OMIM:613805 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... |
OMIM:608670 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic inf... |
OMIM:615582 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Nonimmune hydrops fetalis, Brachydactyly |
OMIM:618265 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Polyhydramnios, Short neck, Postaxial hand polydactyly, Patent ductus art... |
OMIM:613610 |
Joubert Syndrome 39 |
|
Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea... |
OMIM:265380 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... |
ORPHA:2438 |
Farber Disease |
|
CNS foam cells, Abnormality of the hand, Short toe, Abnormality of the elbow, Hydrops fetalis, Jo... |
ORPHA:333 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly |
OMIM:603387 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate |
OMIM:619122 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... |
OMIM:618106 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Decreased fetal movement, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders,... |
OMIM:265000 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly |
ORPHA:141333 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hip dysplasia, Atrial... |
OMIM:614576 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... |
OMIM:206920 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Submucous cleft hard palate, Epiphyseal stippling, Abnormal pelvic gir... |
OMIM:222765 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Deep palmar crease, Short philtrum, Smooth philtrum, Adducted thumb |
ORPHA:293725 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Short toe, Cutaneous syndact... |
OMIM:617667 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate |
ORPHA:250999 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hydrops fetalis |
ORPHA:88618 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, High iliac wing, Cle... |
ORPHA:2780 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Hip dysplasia, Abnormal tongue morphology, Polydactyly |
ORPHA:531151 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Premature birth, Polyhydramnios, Postaxial polydactyly, Fetal pericard... |
OMIM:219730 |
Orofaciodigital Syndrome Xv |
|
Postaxial hand polydactyly, Broad hallux, Duplication of phalanx of hallux |
OMIM:617127 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... |
ORPHA:59315 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han... |
OMIM:612863 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bones, Preaxial polyda... |
OMIM:616300 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Atrial septal ... |
OMIM:201000 |
Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Hypertrophic cardiomyopathy, Postaxial hand polydactyly |
OMIM:617757 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... |
OMIM:117650 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Robin sequence, ... |
OMIM:108300 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased fetal movement, Ulnar deviation of the hand, Premature birth, Rocker b... |
OMIM:208150 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea... |
OMIM:619471 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Talipes eq... |
ORPHA:199302 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Tetralogy of Fallot, Pectoral muscle hypoplasia/aplasia, Radial devia... |
OMIM:136760 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Decreased fetal movement, Tapered toe, Shoulder flexion contra... |
OMIM:620369 |
Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, High palate, Talipes equinovarus, Camptodactyly, Submu... |
ORPHA:168572 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Cleft hard pal... |
OMIM:300990 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... |
OMIM:619680 |
Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
Myhre Syndrome |
|
Brachydactyly, Narrow mouth, Submucous cleft hard palate, Gingival cleft, Cleft palate, Abnormal ... |
ORPHA:2588 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Short neck, Breech presentation, Pa... |
OMIM:300868 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia |
ORPHA:3004 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... |
OMIM:607823 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Orofaciodigital Syndrome I |
|
Syndactyly, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary ... |
OMIM:311200 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Lymphedema, Pericardial ef... |
ORPHA:2136 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly... |
OMIM:600325 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand, Hip dislocation, Sho... |
OMIM:300968 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
Amish Lethal Microcephaly |
|
Cleft soft palate |
ORPHA:99742 |
3Mc Syndrome 3 |
|
Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly |
OMIM:248340 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Postaxial han... |
ORPHA:3082 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... |
OMIM:603671 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly |
OMIM:614099 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Polyhydramnios,... |
OMIM:216340 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Preaxial polydactyly, Hypoplastic ... |
OMIM:617925 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy, Abnormality... |
OMIM:212065 |
Joubert Syndrome 14 |
|
Ventricular septal defect, Postaxial polydactyly |
OMIM:614424 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Absent thumb, Short neck, Short thumb, Part... |
ORPHA:124 |
Congenital Sialidosis Type 2 |
|
Edema, Abnormal heart morphology, Polydactyly, Umbilical hernia, Ascites |
ORPHA:93400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg shortening, Proximal femora... |
ORPHA:397715 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly |
ORPHA:314655 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hydrops fetalis |
OMIM:224120 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Capillary Malformation-Arteriovenous Malformation |
|
Lymphedema, Chylothorax, Nonimmune hydrops fetalis, Abnormal heart morphology |
ORPHA:137667 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Carpenter Syndrome 2 |
|
Short digit, Dextrocardia, Single transverse palmar crease, Postaxial polydactyly, Situs inversus... |
OMIM:614976 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, Abnormal metacarpal morp... |
ORPHA:2658 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Cleft palat... |
OMIM:247200 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Arterial calcification, Medial calcification of large arteries, Edema, C... |
ORPHA:51608 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Vent... |
OMIM:607323 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Patent ductus arteriosus... |
OMIM:211750 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate... |
OMIM:619103 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Postaxial hand polydactyly, Narrow palate, Cleft palate, Downturned corner... |
OMIM:605627 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd... |
OMIM:301022 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Postaxial foot polydactyly |
OMIM:241800 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Hydrops fetalis, Dehydration, Abnormal heart morphology |
ORPHA:79282 |
Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of ... |
OMIM:615630 |
Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Overlapping fingers, Postaxial hand polydactyly, Small hand |
ORPHA:952 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Ge... |
OMIM:225500 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Patent ductus arteriosus, Postax... |
ORPHA:2473 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,... |
OMIM:619297 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Cleft soft palate, Tapered finger, Long fingers, High, narrow... |
OMIM:619950 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal... |
ORPHA:235 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... |
OMIM:617527 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia... |
OMIM:114290 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper lip, Palmar pits, Hamarto... |
OMIM:109400 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Postaxial hand polydactyly |
OMIM:220220 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Patent ductus arteriosus, Postaxial hand polydactyly, Cone-shaped epiphysi... |
OMIM:617088 |
Acrocallosal Syndrome |
|
Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:36 |
Acalvaria |
|
Postaxial hand polydactyly |
ORPHA:945 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, High, narrow palate, Patellar apla... |
ORPHA:2554 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala... |
ORPHA:457279 |
Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth |
ORPHA:3426 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flexion contracture, Postax... |
ORPHA:2920 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Patent duct... |
OMIM:249000 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Deep philtrum, Thin lower lip vermilion, Elbow flexion... |
OMIM:619194 |
Galactosialidosis |
|
Nonimmune hydrops fetalis |
OMIM:256540 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Large... |
ORPHA:2636 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Desmosterolosis |
|
Intestinal malrotation, Micromelia, Metatarsus adductus, Submucous cleft hard palate, Cleft palat... |
ORPHA:35107 |
Velocardiofacial Syndrome |
|
Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ... |
OMIM:192430 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Cleft palate, Downturned... |
OMIM:616580 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, High palate, Overla... |
OMIM:300960 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... |
OMIM:615873 |
Pearson Syndrome |
|
Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal stromal edema, Cardiomyopathy |
ORPHA:699 |
Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Aor... |
ORPHA:355 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1389 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Wide mouth, Duodenal... |
OMIM:243605 |
Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Patent foramen ovale, Patent ductus arteriosus after premature birth, Postaxial pol... |
OMIM:618460 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis |
OMIM:266200 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Unilateral cleft palate, Abnormality of the dentition, Upper li... |
ORPHA:1299 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
Adnp Syndrome |
|
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe... |
ORPHA:404448 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Preaxia... |
OMIM:210710 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis |
OMIM:602522 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Deep philtrum, ... |
OMIM:115150 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Patent ductus arteriosu... |
ORPHA:464306 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Pa... |
OMIM:610168 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Polyhydramnios, Aortic isthmus hypoplasia, Hypoplastic iliac win... |
OMIM:180849 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyly of the 5th f... |
OMIM:618971 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci... |
ORPHA:77301 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micromelia, Submucous cleft hard palate, Cleft palate, Large hands, ... |
ORPHA:2671 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Atrial septal defect, Patent ductus arteriosus, Short g... |
OMIM:312870 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Carious teeth, Velopharyn... |
OMIM:223370 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Genu valgum, Downturned corners of mouth, Smooth philtrum |
OMIM:619321 |
Hereditary Elliptocytosis |
|
Hydrops fetalis |
ORPHA:288 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Ventricular septal defect, Spina bifida, Absent radius, Shor... |
OMIM:192350 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Abnormal heart morpholog... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Abnormal heart morpholog... |
ORPHA:352665 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydac... |
OMIM:611134 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Supe... |
ORPHA:268261 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Rocker bottom foot, Coxa valga, Postaxial hand polydactyly, Postaxial ... |
OMIM:301056 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, 2-3 toe cutane... |
OMIM:300166 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly |
OMIM:617622 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Dental crowding, High, narrow palate, Narrow mouth, Wide mouth, Short philtrum, Wi... |
OMIM:300967 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly |
ORPHA:457284 |
Bardet-Biedl Syndrome 21 |
|
Postaxial hand polydactyly |
OMIM:617406 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... |
OMIM:146510 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Double inlet left ventricle, Polydactyly, Atrial septal def... |
OMIM:619869 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Talipes equinovarus, Cleft soft palate |
OMIM:614557 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect |
ORPHA:75389 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Pyloric stenosis, Submucous cleft h... |
ORPHA:2461 |
Non-Distal Duplication 13Q |
|
Postaxial hand polydactyly, Arachnodactyly |
ORPHA:1702 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... |
OMIM:301043 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Postaxial hand p... |
OMIM:264480 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metaphyses, Abnorma... |
ORPHA:508533 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Submucous cleft hard palate, Genu valgum, Deep palmar crease, Palmop... |
ORPHA:1340 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Limited elbow movemen... |
OMIM:101200 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Patent ductus arteriosus, Coarctation of aorta, Polydactyly, Interrup... |
ORPHA:17 |
Bresek Syndrome |
|
Neonatal death, Postaxial hand polydactyly |
ORPHA:85284 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal ... |
OMIM:181450 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact... |
ORPHA:93271 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Hydrops fetalis, Foam cells, Ascites |
ORPHA:646 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Syndactyly, Br... |
ORPHA:353277 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer... |
OMIM:615948 |
Meckel Syndrome, Type 7 |
|
Situs inversus totalis, Patent ductus arteriosus, Postaxial foot polydactyly, Atrial septal defec... |
OMIM:267010 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Postaxial polydactyly, Situ... |
OMIM:619534 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Postaxial hand polydac... |
ORPHA:2519 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Ventricular septal defect, Premature birth, Polyhydramnios, Echogenic... |
OMIM:619488 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Talipes equinovarus |
OMIM:601374 |
Pallister-Hall Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Mesoaxial polydactyly, Radial bowing, Patent... |
ORPHA:672 |
Hereditary Angioedema Type 1 |
|
Abnormal soft palate morphology, Abnormal uvula morphology, Tongue edema, Intestinal edema |
ORPHA:100050 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis |
ORPHA:3261 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum |
OMIM:612731 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... |
OMIM:301068 |
Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Brachydactyly |
ORPHA:2075 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Broad uvula, Bifid uvula, Long toe, Arachnod... |
OMIM:619472 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb |
ORPHA:139471 |
Zttk Syndrome |
|
Abnormality of the dentition, Submucous cleft hard palate, Small hand, Short foot, Downturned cor... |
OMIM:617140 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... |
OMIM:304120 |
Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:617563 |
Okamoto Syndrome |
|
Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial... |
ORPHA:2729 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Brachydactyly, Elbow dislocation |
ORPHA:2916 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Short uvula, Submucous... |
OMIM:619539 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Submucous cleft hard palate, Neoplasm of the tongue, Clinodactyly of the... |
ORPHA:3047 |
Monosomy 13Q34 |
|
Postaxial foot polydactyly, Common atrium, Postaxial hand polydactyly, Pulmonic stenosis |
ORPHA:96168 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h... |
ORPHA:261537 |
Hepatoerythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:95159 |
Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely spaced teeth, Bifid uvula, L... |
ORPHA:2152 |
Orofaciodigital Syndrome Type 3 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum |
ORPHA:2752 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly |
ORPHA:66625 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon... |
ORPHA:521426 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly |
ORPHA:110 |
Legius Syndrome |
|
Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly of the ... |
ORPHA:137605 |
Coffin-Siris Syndrome 12 |
|
Celiac disease, Short thumb, Slender finger, Velopharyngeal insufficiency, Submucous cleft hard p... |
OMIM:619325 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Natal tooth, Short femur, Thin upper lip vermilion, Camptodactyly of fin... |
ORPHA:3455 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h... |
ORPHA:261552 |
Congenital Erythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema |
ORPHA:79277 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda... |
ORPHA:2750 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Absent thumb, Cleft palate, Downturned corners of mouth, Slender long bone, Thin ... |
ORPHA:500150 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Cleft upper lip, Metatarsus adductus, Submucous cleft hard palate, Abnor... |
OMIM:607872 |
Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Patent duc... |
ORPHA:818 |
Meckel Syndrome, Type 6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:612284 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Postaxial hand polydactyly, Deviation of fing... |
ORPHA:3380 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Rhizomelia, Phalangeal cone-shaped epiphyses, Postaxial hand polydactyly, Short toe, Short metata... |
OMIM:266920 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Restrictive Dermopathy 1 |
|
Natal tooth, Rocker bottom foot, Submucous cleft hard palate, Overtubulated long bones, Osteolyti... |
OMIM:275210 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Camptod... |
ORPHA:373 |
Holoprosencephaly 2 |
|
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... |
OMIM:157170 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Wide distal femoral metaphysis,... |
OMIM:269150 |
Distal Deletion 3P |
|
Clinodactyly of the 5th finger, Atrioventricular canal defect, Postaxial hand polydactyly |
ORPHA:1620 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Postaxial hand polydactyly, Ventricular septal defect |
OMIM:235255 |
Coach Syndrome 1 |
|
Postaxial hand polydactyly |
OMIM:216360 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus a... |
OMIM:270400 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arachnodactyly, Patent ductus arteriosus, Bicuspid pulmonary valve, Postax... |
OMIM:609192 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Overlapping toe, Long fingers, Patent ductus arteriosus,... |
OMIM:213980 |
Joubert Syndrome 1 |
|
Postaxial foot polydactyly, Clinodactyly, Postaxial hand polydactyly |
OMIM:213300 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Cleft lip, Narrow palate, Cleft palate, Contracture of the proximal interphalangeal joint of the ... |
OMIM:618223 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Preaxial hand polydactyly, Complete atrioventricular canal defect, Pos... |
OMIM:236680 |
Lathosterolosis |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly |
ORPHA:46059 |
Focal Dermal Hypoplasia |
|
Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa... |
OMIM:305600 |
Joubert Syndrome 2 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:608091 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Ventricular septal defect |
ORPHA:1655 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology, Median cleft lip and palate |
ORPHA:95494 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Ventricular septal defect, Deviation of the hallux, Patent ductus arteriosus, Posta... |
ORPHA:434179 |
Restrictive Dermopathy |
|
Natal tooth, Camptodactyly of finger, Submucous cleft hard palate, Narrow mouth, Microcolon |
ORPHA:1662 |
Lathosterolosis |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly, Talipes equinovarus |
OMIM:607330 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Meckel Syndrome |
|
Bowing of the long bones, Situs inversus totalis, Preaxial hand polydactyly, Postaxial hand polyd... |
ORPHA:564 |
Acrocephalopolydactylous Dysplasia |
|
Postaxial hand polydactyly, Micromelia |
OMIM:200995 |
Joubert Syndrome With Hepatic Defect |
|
Postaxial hand polydactyly |
ORPHA:1454 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology |
ORPHA:2166 |
Monosomy 9P |
|
Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Bilater... |
ORPHA:261112 |
Arima Syndrome |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:243910 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Camptodactyly of 2nd-5th fingers, Sh... |
OMIM:601803 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Postaxial hand polydactyly, Hip dislocation, Ectrodactyly, Neonatal death, Atrial septal defect |
OMIM:308205 |
Holoprosencephaly 9 |
|
Postaxial hand polydactyly |
OMIM:610829 |