| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Acromesomelic Dysplasia 2A |
|
Stillbirth, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia... |
OMIM:200700 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Lethal Faciocardiomelic Dysplasia |
|
Narrow mouth, Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club ha... |
ORPHA:1972 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Cleft pal... |
OMIM:601560 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Broad hallux, Complete atrioventricular can... |
OMIM:217095 |
| Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasi... |
OMIM:227270 |
| Rhombencephalosynapsis |
|
Anal atresia, Narrow mouth, Hydrocephalus, Microretrognathia, Tracheoesophageal fistula, Short ph... |
ORPHA:59315 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... |
OMIM:314390 |
| Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
| Polydactyly, Preaxial I |
|
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Abnormal hip bone morphology, Upper limb phocomelia, Syndacty... |
ORPHA:294975 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Postaxial hand polydactyly, Broad hallux, Subvalvular aortic stenosis, Com... |
OMIM:217085 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
| Omodysplasia 2 |
|
Dislocated radial head, Micropenis, Short 1st metacarpal, Hypospadias, Short humerus, Long philtr... |
OMIM:164745 |
| Fanconi Anemia, Complementation Group O |
|
Anal atresia, Miscarriage, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonata... |
OMIM:613390 |
| Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Bulbous nose, Small hand, Depressed nasal bridge, Bifid uvula, Downturne... |
OMIM:618779 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... |
OMIM:617927 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Tibial bowing, Flared nostrils, Talipes equinovarus, Cleft palate, ... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... |
OMIM:613091 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia, Abnormality of femur morphology, Abnormal epiphysis morphology, Abnormality of the ... |
ORPHA:2310 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Broad nasal tip, Syndactyly, Polydactyly, Bifid nasal tip... |
OMIM:300484 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Neonatal ... |
OMIM:601376 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Narrow mouth, Talipes equinovarus, Micrognathia, Short tibia, Short... |
OMIM:201170 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
| Femoral-Facial Syndrome |
|
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Cleft palate, Short femur, Micro... |
ORPHA:1988 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Narrow mouth, Absent thumb, Short femur, Micropenis, Short tibia, Thin vermilion border, Hypoplas... |
OMIM:612447 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Tracheoesophageal fistula, Coronal hypospadi... |
OMIM:619859 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... |
ORPHA:240 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... |
ORPHA:1856 |
| Mental Retardation, X-Linked 91 |
|
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Cubitus valgus, Clinodactyly,... |
OMIM:300577 |
| Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Hydrocephalus, Absent thumb, Micropenis, Tracheoesophageal fistula, Ventricular... |
OMIM:300514 |
| Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phal... |
ORPHA:2256 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Micrognathia, Brachydactyly, Broad thumb, Smooth philtrum, Esophageal atres... |
OMIM:614526 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Atrioventricular canal defect, Limb undergrowth, Genu valgum, Complete atr... |
OMIM:619142 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
| Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Perineal ... |
ORPHA:2538 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... |
ORPHA:2831 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Hypoplasia of the radius, Depressed nasal bridge, Hypoplasia of the ulna, Hypoplastic pelvis, Rhi... |
OMIM:602613 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short middle phalanx of the 2nd finge... |
OMIM:614326 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
| Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd... |
OMIM:118651 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
| Langer Mesomelic Dysplasia |
|
High palate, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Mesomelic... |
ORPHA:2632 |
| Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... |
OMIM:608571 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Narrow nose, Pes planus, Elbow flexion contracture, ... |
OMIM:249600 |
| Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly, ... |
ORPHA:2756 |
| Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Midshaft hypospadias, Tooth agenesis, Micrognathia, Camptodactyly of f... |
ORPHA:2863 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Slender finger, Cleft palate, Micrognathia, Ventricular septal defect, Deep... |
OMIM:610536 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Atrial septal defect, Atri... |
OMIM:600123 |
| Fibrochondrogenesis 1 |
|
Cleft palate, Depressed nasal bridge, Rhizomelia, Short nose, Dumbbell-shaped long bone, Short lo... |
OMIM:228520 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, Abnormality of the... |
ORPHA:1106 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Micrognathia, Depressed nasal bridge, Short humerus, Rhizomelia, Anteverted nares, S... |
OMIM:222765 |
| Apert Syndrome |
|
Hydrocephalus, Cleft palate, Depressed nasal bridge, Cutaneous syndactyly, Delayed eruption of te... |
OMIM:101200 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... |
ORPHA:391641 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, 11 pairs of ribs, Rhizomeli... |
OMIM:108720 |
| Feingold Syndrome |
|
Duodenal atresia, Clinodactyly of the 5th finger, Micrognathia, Deviation of the 2nd finger, Depr... |
ORPHA:1305 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Depressed nasal ... |
OMIM:304120 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Mesomelia, Renal cyst, Renal hy... |
OMIM:228940 |
| Autosomal Dominant Omodysplasia |
|
Hypoplasia of penis, Micrognathia, Short 1st metacarpal, Short humerus, Long philtrum, Depressed ... |
ORPHA:93328 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Dep... |
ORPHA:7 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Atrial septal defect, Abnormality of the nares, Abnormal morphology o... |
ORPHA:3469 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Holoprosencephaly |
OMIM:611638 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft palate, Depressed nasal bridge, Short long bone, Anal atresia, Narrow greater sciatic notch... |
OMIM:617925 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... |
OMIM:607323 |
| Vacterl Association With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Renal hypoplasi... |
OMIM:276950 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Hypoplasia of the radius, Hypoplasia of the ulna, Short nose, Horseshoe kidney, U-Sh... |
OMIM:609945 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia, Duplication involving bones of the feet, Abnormality of the lower limb |
OMIM:246000 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Intestinal malrotation, ... |
OMIM:617866 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... |
OMIM:147891 |
| Seckel Syndrome 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ... |
OMIM:210600 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Aquedu... |
ORPHA:1788 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
| Apert Syndrome |
|
Ectopic anus, Hydrocephalus, Narrow palate, Aplasia/Hypoplasia of the thumb, Convex nasal ridge, ... |
ORPHA:87 |
| Multiple Synostoses Syndrome 1 |
|
Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short philtrum, Symphalangi... |
OMIM:186500 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... |
OMIM:601438 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... |
OMIM:603671 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Atrial septal defect, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Hydrocephalus, Atrial septal defect, Aortic valve st... |
OMIM:220210 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Micrognathia, Abnormality of the dentition, Short ph... |
ORPHA:217340 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Acalvaria |
|
Postaxial hand polydactyly, Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Phocomelia, Schinzel Type |
|
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Micromelia, Aplasia/Hypoplasia... |
ORPHA:2879 |
| Fanconi Anemia, Complementation Group L |
|
Anal atresia, Hydrocephalus, Cleft palate, Hypoplastic sacrum, Absent thumb, Tracheoesophageal fi... |
OMIM:614083 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of penis, Short humerus, Micromelia, Abnormality of th... |
ORPHA:2491 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Genu valgum, Abnormal palate... |
ORPHA:1381 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Pallister W Syndrome |
|
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Broad nasal tip, Pes c... |
OMIM:311450 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:3320 |
| Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Depressed nasal ridge, Open bite, Hypoplasia of the radiu... |
ORPHA:950 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Polyhydramnios, Hydrocephalus, Hydranencephaly, Holoprosencephaly |
OMIM:617967 |
| Pfeiffer Syndrome Type 2 |
|
High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Intestinal malrotati... |
ORPHA:93259 |
| Even-Plus Syndrome |
|
High palate, Anal atresia, Epiphyseal dysplasia, Atrial septal defect, Hypodontia, Depressed nasa... |
OMIM:616854 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Abnormality of the nares, Short humerus, L... |
ORPHA:2878 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Short ribs, Micropenis, Micrognathia, Depressed nasal bridge, Microm... |
OMIM:241800 |
| Maternal Phenylketonuria |
|
High palate, Double outlet right ventricle, Hypoplastic left heart, Micrognathia, Brachydactyly, ... |
ORPHA:2209 |
| Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Micrognathia, Depressed nasal bridge, Osteolytic defects of the phalanges of t... |
OMIM:277150 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| Radial Aplasia, X-Linked |
|
Penile hypospadias, Anal atresia, Hydrocephalus, Absent radius |
OMIM:312190 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
| 15Q24 Microdeletion Syndrome |
|
Abnormality of the dentition, Depressed nasal bridge, Microphallus, Abnormal heart morphology, Wi... |
ORPHA:94065 |
| Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Depressed nasal bridge, Single transverse palmar crease, ... |
OMIM:113470 |
| Osteopathia Striata With Cranial Sclerosis |
|
High palate, Hydrocephalus, Cleft palate, Ventricular septal defect, Thick lower lip vermilion, C... |
OMIM:300373 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Split foot, Hypoplasia of the radius, Tracheoesoph... |
ORPHA:958 |
| Trisomy 18 |
|
Cleft palate, Anencephaly, Abnormality of the upper limb, Ventricular septal defect, Short nose, ... |
ORPHA:3380 |
| Mietens Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplasia of the radius,... |
ORPHA:2557 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Holoprosencephaly, Abno... |
ORPHA:1590 |
| Short Rib-Polydactyly Syndrome |
|
Cleft palate, Nephronophthisis, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing... |
ORPHA:1505 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
High palate, Aplasia/Hypoplasia of the ulna, Cleft upper lip, Hand oligodactyly, Cleft palate, Hy... |
OMIM:602418 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... |
ORPHA:75508 |
| W Syndrome |
|
Radial bowing, Broad nasal tip, Pes cavus, Depressed nasal bridge, Camptodactyly, Hypoplasia of t... |
ORPHA:2804 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Short femur, Short ribs, Micrognathia, Flared metaphysi... |
OMIM:616897 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the ulna, Downturned corn... |
OMIM:615162 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Tracheoesophageal fistula, Hypospadias, 11... |
ORPHA:77298 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Convex nasal ridge, High, narrow palate, Hypodontia, Hypoplasi... |
ORPHA:3258 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Cleft palate, Abnormality o... |
ORPHA:140 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia of the ulna, Wide nose, Thic... |
ORPHA:357175 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... |
OMIM:607143 |
| Pfeiffer Syndrome Type 3 |
|
High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Intestinal malrotation, Small hand,... |
ORPHA:93260 |
| Juberg-Hayward Syndrome |
|
Abnormality of finger, Dandy-Walker malformation, Hypoplasia of the radius, Hypospadias, Radiouln... |
ORPHA:2319 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Secundum atrial septal defect, Hypoplastic left heart, Abse... |
OMIM:142900 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... |
OMIM:218530 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Depressed nasal bridge, Ureteral... |
ORPHA:90652 |
| Eiken Syndrome |
|
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Long hallux, Eruption failur... |
OMIM:600002 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Atrial septal defect, Postaxial polydactyly, Bilateral talipes equi... |
OMIM:618142 |
| Distal Monosomy 10P |
|
Ectopic anus, Anal atresia, Clinodactyly of the 5th finger, Convex nasal ridge, Hypoplasia of pen... |
ORPHA:1580 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Primum atrial septal defect, Anteriorly placed anus, Absent thumb |
OMIM:615272 |
| Codas Syndrome |
|
Atrioventricular canal defect, Depressed nasal bridge, Congenital hip dislocation, Delayed erupti... |
OMIM:600373 |
| Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Anal atresia, Hypodontia, Cutaneous syndactyly, Neural tube defect, Conical toot... |
OMIM:119580 |
| Laurin-Sandrow Syndrome |
|
Hydrocephalus, Depressed nasal ridge, Fibular duplication, Abnormality of the nose, Abnormal meta... |
ORPHA:2378 |
| Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... |
OMIM:258860 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Swan neck-like def... |
OMIM:616716 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Holoprosencephaly, Amelia, Anterior encephalocele, Bilateral cleft ... |
OMIM:601357 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... |
ORPHA:411696 |
| Fryns Syndrome |
|
Wide mouth, Cleft palate, Prominent fingertip pads, Single transverse palmar crease, Ventricular ... |
OMIM:229850 |
| Orofaciodigital Syndrome Ix |
|
High palate, Accessory oral frenulum, Cleft palate, Short tibia, Abnormality of the dentition, Br... |
OMIM:258865 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anal atresia, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Micrognathia, W... |
ORPHA:1352 |
| Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... |
OMIM:271700 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Muscular ventricular septal defect, Abnormality of the dentition, Long nose, Carious teeth, Horse... |
ORPHA:363444 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Atrioventricular canal defe... |
OMIM:274000 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Atrial septal defect, Cleft palate, Shortening of all distal phalanges of the finge... |
OMIM:614749 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synostosi... |
OMIM:614900 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
| Cousin Syndrome |
|
Hydrocephalus, Cleft palate, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of ... |
OMIM:260660 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Vater/Vacterl Association |
|
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... |
OMIM:192350 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Tapered finger, Holoprosencephaly |
OMIM:300706 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
High palate, Anal atresia, Overlapping toe, Bulbous nose, Gastroesophageal reflux, Low hanging co... |
OMIM:613792 |
| Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... |
OMIM:613885 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of finger, Hypoplasia... |
ORPHA:2249 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Gastroesophag... |
ORPHA:93316 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... |
OMIM:613751 |
| Vacterl With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Aqueductal stenosis, Hypoplasia of the radius, Tracheoesophageal fis... |
ORPHA:3412 |
| Feingold Syndrome 1 |
|
High palate, Duodenal atresia, Short toe, 2-3 toe syndactyly, Everted lower lip vermilion, Trache... |
OMIM:164280 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius... |
ORPHA:2476 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
| Kinsship Syndrome |
|
Wide mouth, Bulbous nose, Short philtrum, Single transverse palmar crease, Horseshoe kidney, Anky... |
OMIM:619297 |
| Visceral Myopathy 2 |
|
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... |
OMIM:619350 |
| Schisis Association |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Micromelia, Anencephaly, Unilateral cleft ... |
ORPHA:63862 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Baller-Gerold Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Anter... |
OMIM:218600 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral bowing, Metaphyseal widening, Brac... |
ORPHA:440354 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Bulbous nose, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Tapered finger,... |
OMIM:300968 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Urethral stricture, Carious teeth, Esophageal stricture, Mitten deformity,... |
ORPHA:79409 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
| Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
| Endocrine-Cerebroosteodysplasia |
|
Hydrocephalus, Cleft palate, Depressed nasal tip, Micromelia, Enlarged kidney, Sandal gap, Microp... |
OMIM:612651 |
| Meier-Gorlin Syndrome 7 |
|
High palate, Anal atresia, Bowing of the legs, 2-3 toe syndactyly, Narrow mouth, Atrial septal de... |
OMIM:617063 |
| Orofaciodigital Syndrome X |
|
Hand oligodactyly, Cleft palate, Depressed nasal bridge, Coalescence of tarsal bones, Fibular apl... |
OMIM:165590 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna, Renal hypoplasia |
OMIM:212780 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Brachydactyly, Long philtru... |
ORPHA:401935 |
| Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... |
ORPHA:56304 |
| Feingold Syndrome Type 2 |
|
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short ... |
ORPHA:391646 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Broad hallux, Abnormal thum... |
ORPHA:2669 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia, Hydrocephalus |
OMIM:617244 |
| Cocaine Embryofetopathy |
|
Short distal phalanx of finger, Encephalocele, Intestinal atresia |
ORPHA:1911 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Cartilage-Hair Hypoplasia |
|
Coxa vara, Malabsorption, Metaphyseal dysplasia, Metaphyseal cupping, Femoral bowing, Metaphyseal... |
OMIM:250250 |
| Kyphomelic Dysplasia |
|
Cleft upper lip, Tibial bowing, Radial bowing, Talipes equinovarus, Cleft palate, Short femur, Fe... |
OMIM:211350 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Dislocated radial head, Narrow mouth, Talipes equinovarus, Micrognathia, Short humer... |
OMIM:602471 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Unilateral renal agenesis, Tracheoesophagea... |
OMIM:619227 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Narrow mouth, Cleft palate, Micrognathia, Brachydactyly, Genu valgum, Short nose, Shor... |
OMIM:614078 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Micromelia, Brachydactyly, Polyhydramnios... |
ORPHA:93274 |
| Trisomy 1Q |
|
Anal atresia, Narrow mouth, Hydrocephalus, Microretrognathia, Cleft palate, Congenital megaureter... |
ORPHA:261344 |
| Baller-Gerold Syndrome |
|
High palate, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the ureter, Short n... |
ORPHA:1225 |
| Campomelic Dysplasia |
|
High palate, Hydrocephalus, Cleft palate, Depressed nasal ridge, Femoral bowing, Short 1st metaca... |
OMIM:114290 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Restrictive cardiomyopathy, Ankle clonus, Abnormality of the dentition, Depressed na... |
OMIM:615398 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Convex nasal ridge, Cleft palate, Microgn... |
OMIM:251230 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of the thumb, Nephrotic syndrome, Partial duplication of the distal phalanx ... |
OMIM:256200 |
| Tibial Hemimelia |
|
Cleft palate, Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux... |
ORPHA:93322 |
| Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Absent thumb, Micropenis, Tracheoesophageal fistula, Partial duplication of thumb ... |
OMIM:227646 |
| Acromicric Dysplasia |
|
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Narrow mouth, Bulbous nose, S... |
ORPHA:969 |
| Fryns Syndrome |
|
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Tented upper lip vermi... |
ORPHA:2059 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Micrognathia, Depressed... |
ORPHA:261120 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Micrope... |
OMIM:300209 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Hypoglossia-Hypodactyly Syndrome |
|
High palate, Anal atresia, Short distal phalanx of finger, Narrow mouth, Aplasia/Hypoplasia of th... |
ORPHA:989 |
| Acrocardiofacial Syndrome |
|
Cleft upper lip, Anal atresia, Mitral stenosis, Atrial septal defect, Hypoplasia of penis, Cleft ... |
ORPHA:2008 |
| Van Esch-O'Driscoll Syndrome |
|
Wide mouth, Pulmonary valve atresia, Clinodactyly of the 5th finger, Atrial septal defect, Trache... |
OMIM:301030 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Achondroplasia |
|
Bowing of the legs, Hydrocephalus, Depressed nasal bridge, Trident hand, Flared metaphysis, Brach... |
OMIM:100800 |
| Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Cleft palate, Micropenis, Hypoplasia of the radius, Micrognathia, Congenital hip... |
OMIM:263750 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Talipes equinovarus, Cleft palate, Short femur, Abnormal ossification invol... |
ORPHA:1190 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Anal atresia, Short middle phalanx of finger, Wide nasal bridge |
OMIM:309620 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Anal atresia, Abnormality of femur morphology, Narrow palate, Tooth agenesis, Micrognathia, Abnor... |
ORPHA:2063 |
| Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Hypospadias, Ventricular septal defect, Choanal atresia, Esophageal at... |
ORPHA:1923 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... |
OMIM:619148 |
| Mirage Syndrome |
|
Hydrocephalus, Gastroesophageal reflux, Talipes equinovarus, Radial club hand, Hypospadias, Overl... |
OMIM:617053 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Distal Monosomy 12Q |
|
Bulbous nose, Long foot, Pyloric stenosis, Broad hallux, Single transverse palmar crease, Clinoda... |
ORPHA:96149 |
| Distal Trisomy 15Q |
|
High palate, Anal atresia, Arachnodactyly, Micrognathia, Camptodactyly of finger, Long philtrum, ... |
ORPHA:1707 |
| 17P13.3 Microduplication Syndrome |
|
High palate, Narrow mouth, Clinodactyly of the 5th finger, Hypoplasia of penis, Congenital hip di... |
ORPHA:217385 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hypospadias, Hydrocephalus |
ORPHA:141333 |
| Temple Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Small hand, Micrognathia, Short philtrum, Depressed nas... |
OMIM:616222 |
| Hydrocephalus With Associated Malformations |
|
Tibial bowing, Hydrocephalus, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal f... |
OMIM:236640 |
| Boomerang Dysplasia |
|
Hypoplastic nasal septum, Hypoplastic iliac body, Wide nasal bridge, Neonatal death, Underdevelop... |
OMIM:112310 |
| Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
| Chromosome 17P13.1 Deletion Syndrome |
|
High palate, Long hallux, Hydrocephalus, Ankle clonus, Broad hallux, Anteverted nares, Short foot... |
OMIM:613776 |
| Acrocallosal Syndrome |
|
High palate, Wide mouth, Abnormal cardiac septum morphology, Triangular mouth, Cleft palate, Shor... |
OMIM:200990 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Deviation of finger, Anteverted nares, Short nose, Hydronephrosis, Abn... |
ORPHA:1450 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion ... |
ORPHA:2370 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Vissers-Bodmer Syndrome |
|
Tapered finger, Holoprosencephaly |
OMIM:619033 |
| Omodysplasia 1 |
|
Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Short nose, Umbilical hernia, Ante... |
OMIM:258315 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Anal atresia, Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Depressed nasal bridge, Micromelia, Urethrovaginal fistula, Abnormal metaphysis morphology, Ectop... |
ORPHA:93271 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Anencephaly, Micromelia, Tetralogy of Fallot, Ventricular septa... |
ORPHA:1908 |
| Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... |
OMIM:612946 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis |
OMIM:619817 |
| Vacterl/Vater Association |
|
Anal atresia, Abnormal cardiac septum morphology, Finger syndactyly, Cleft palate, Hypoplasia of ... |
ORPHA:887 |
| Distal Monosomy 10Q |
|
High palate, Cleft palate, Prominent fingertip pads, Tapered finger, Single transverse palmar cre... |
ORPHA:96148 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth, Oral cleft |
OMIM:218650 |
| Cat-Eye Syndrome (Type I) |
|
Anal atresia, Micrognathia, Abnormal heart morphology |
DECIPHER:42 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Short toe, Holoprosencephaly, Brachydactyly, Tapered finger, Agenesis of corpus callosum, Short f... |
OMIM:610680 |
| Femoral-Facial Syndrome |
|
Cleft palate, Short fourth metatarsal, Radioulnar synostosis, Ventricular septal defect, Short no... |
OMIM:134780 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| Zimmermann-Laband Syndrome 3 |
|
High palate, Short distal phalanx of finger, Long hallux, Gingival overgrowth, Absent distal phal... |
OMIM:618658 |
| Stromme Syndrome |
|
Wide mouth, Duodenal atresia, Hydrocephalus, Stillbirth, Cleft palate, Intestinal malrotation, Mi... |
OMIM:243605 |
| Renpenning Syndrome |
|
Anal atresia, Narrow mouth, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, Hy... |
ORPHA:3242 |
| Van Den Ende-Gupta Syndrome |
|
High palate, Cleft palate, Femoral bowing, Depressed nasal bridge, Narrow foot, Tapered finger, G... |
OMIM:600920 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Short middle phalanx of th... |
OMIM:617926 |
| Pallister-Hall Syndrome |
|
Cleft palate, Depressed nasal bridge, Ventricular septal defect, Y-shaped metacarpals, Short nose... |
OMIM:146510 |
| Mosaic Trisomy 14 |
|
High palate, Ectopic anus, Wide mouth, Hypoplasia of penis, Cleft palate, Micrognathia, Camptodac... |
ORPHA:1703 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Anal atresia, Hydrocephalus, Hypoplasia of the radius, Oligodactyly, Rectovaginal f... |
ORPHA:3016 |
| Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Atrioventricular canal defect, Short 1st metac... |
OMIM:619135 |
| Postaxial Acrofacial Dysostosis |
|
Cleft palate, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of the ... |
ORPHA:246 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Bulbous nose, Atrial septal defect, Pes cavus, Short phalanx of finger, Tapered finger... |
OMIM:613458 |
| Acro-Renal-Ocular Syndrome |
|
Radial club hand, Hypoplasia of the ulna, Sandal gap, Horseshoe kidney, Bladder diverticulum, Sho... |
ORPHA:959 |
| Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Anal atresia, Cleft palate, Ventricular septal defect, Abnormal shoulder morphology... |
ORPHA:2345 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... |
OMIM:619110 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Wide mouth, Hydrocephalus, Cleft palate, Prominent fingertip pads, Pyloric steno... |
OMIM:305450 |
| Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly, Abnormal heart morphology |
ORPHA:1445 |
| Distal Trisomy 5Q |
|
Narrow mouth, Absent thumb, Hypoplasia of the radius, Micrognathia, Hypospadias, Thin vermilion b... |
ORPHA:96097 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
High palate, Anal atresia, Cleft upper lip, Clinodactyly of the 5th finger, Narrow mouth, Hydroce... |
OMIM:612582 |
| Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Cleft palate, Micropenis, Urethral diverticulum, Ventral shortening of foreskin, Di... |
ORPHA:95706 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Microphthalmia, Split hand, Encephalocele, Lobar holoprosencephaly |
ORPHA:2117 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Narrow mouth, Bulbous nose, Short metacarpal, Cone-shaped epip... |
OMIM:102370 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Atrial septal defect, Short femur, Femoral bowing, Hypoplastic ilia, Depressed nas... |
ORPHA:1860 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ectopic anus, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the distal phalanges of the han... |
ORPHA:94066 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Palmoplantar hyperkeratosis, Esophageal stricture, Abnormality of the lower limb, Abnormality of ... |
ORPHA:158673 |
| Rhizomelic Syndrome, Urbach Type |
|
High palate, Short distal phalanx of finger, Abnormality of the tongue, Cleft palate, Pulmonic st... |
ORPHA:3098 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Wide nasal bridge, Postaxial hand... |
ORPHA:380 |
| Kindler Epidermolysis Bullosa |
|
Abnormal dental enamel morphology, Cheilitis, Colitis, Periodontitis, Finger syndactyly, Camptoda... |
ORPHA:2908 |
| Ulnar-Mammary Syndrome |
|
Ectopic anus, Anal atresia, Aplasia/Hypoplasia of the ulna, Abnormality of finger, Short distal p... |
ORPHA:3138 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Anal atresia, Atrial septal defect, Intestinal malrotation, Arachnodactyly, Hypospad... |
OMIM:617602 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Micrognathia, Radial club hand, Brachydactyly, Wide nasal bridge, Broad thumb, Abnormal palate mo... |
ORPHA:1278 |
| Cerebrocostomandibular Syndrome |
|
High palate, Abnormality of the dentition, Congenital hip dislocation, 11 pairs of ribs, Ventricu... |
OMIM:117650 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Congenital hip dislocation, Anophthalmia, Microphthalmia, Agenesis of corp... |
OMIM:164180 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Anal atresia, Hydrocephalus, 2-3 toe syndactyly, Tricuspid atresia, Atrial septa... |
OMIM:264480 |
| Cat-Eye Syndrome |
|
Anal atresia, Hip dysplasia, Hydronephrosis |
ORPHA:195 |
| Cat Eye Syndrome |
|
Tricuspid atresia, Cleft palate, Ventricular septal defect, Horseshoe kidney, Umbilical hernia, A... |
OMIM:115470 |
| Orofaciodigital Syndrome Type 2 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Atrioventricular c... |
ORPHA:2751 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Chronic kidney dise... |
OMIM:208500 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Narrow mouth, Gastroesophageal reflux, Abnormal esophagus morphology, Carious teeth, Esophageal s... |
ORPHA:89842 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Dental crowding, Wide mouth, Triangular mouth, Hypoplastic sacrum, Hypoplasia of the radius, Depr... |
OMIM:268310 |
| Mckusick-Kaufman Syndrome |
|
High palate, Anal atresia, Ectopic anus, Urogenital sinus anomaly, Atrial septal defect, Hypoplas... |
ORPHA:2473 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gingival overgrowth, Hydrocephalus, Gastroesophageal reflux, Morphological abnormal... |
ORPHA:1834 |
| Cranioectodermal Dysplasia 1 |
|
High palate, Microdontia, Single transverse palmar crease, Rhizomelia, Stage 5 chronic kidney dis... |
OMIM:218330 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Anal atresia, Carious teeth, Bilateral cleft lip and palate, Conical tooth, Finger syndactyly |
ORPHA:1997 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Nephritis, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Narrow mouth, Gastroesophageal reflux, Micrognathia, Camptodactyly of finger, Short nose, Ventric... |
ORPHA:1495 |
| Fg Syndrome Type 1 |
|
High palate, Wide mouth, Malrotation of colon, Hydrocephalus, Limited elbow extension and supinat... |
ORPHA:93932 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous esophageal perfor... |
OMIM:226600 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Talipes equinovarus, Intestinal atresia, Atrial septal de... |
ORPHA:2970 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Gastroesophageal reflux, Secundum atrial septal defect, Absent thumb, ... |
OMIM:156810 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Short nose, Anteverted nares, Thin upper lip vermilion |
ORPHA:2015 |
| Ulnar-Mammary Syndrome |
|
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Pyloric stenosis, Hypoplasia of the ulna... |
OMIM:181450 |
| 3M Syndrome |
|
Bulbous nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Hypospadias, Congenita... |
ORPHA:2616 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Microretrognathia, Cleft palate, Short ribs, Postaxial polydactyly, Preaxial polyda... |
OMIM:616300 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Cleft palate, Micrognathia, Anencephaly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:614120 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Nephrolithiasis, Abnormal morphology of ulna, Depressed nasal ridge, Abnormal hip bone morphology... |
ORPHA:1837 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Dislocated radial head, Anal atresia, Epiphyseal dysplasia, Metaphyseal dysplasia, Delayed ossifi... |
OMIM:617425 |
| Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Anal atresia, Nephropathy |
ORPHA:2408 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Gastroesophageal reflux, Talipes equinovarus, Hypospadias, Tetralogy of Fallot, Hi... |
ORPHA:250994 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
| Otoonychoperoneal Syndrome |
|
Aplasia/Hypoplasia of the fibula, Ankle flexion contracture, Hypospadias, Knee flexion contracture |
OMIM:259780 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Cleft palate, Radioulnar synostosis, Single transverse palmar crease, Short nose, Enamel agenesis... |
OMIM:614701 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Depressed nasal bridge, Short nose, Twelfth rib hypoplasia, Absent frontal sinuses, ... |
OMIM:211910 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
| Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Microgn... |
ORPHA:2839 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Orofaciodigital Syndrome Xi |
|
Bulbous nose, Gastroesophageal reflux, Cleft palate, Postaxial polydactyly, Hypoplasia of the odo... |
OMIM:612913 |
| Steinfeld Syndrome |
|
Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, Bifid uvula, Hypoplasia of the ... |
OMIM:184705 |
| Hydrolethalus |
|
Hydrocephalus, Micromelia, Anencephaly, Arrhinencephaly, Anophthalmia, Postaxial hand polydactyly... |
ORPHA:2189 |
| Orofaciodigital Syndrome Xv |
|
Postaxial polydactyly, Lobulated tongue, Broad hallux, Ventriculomegaly, Hydronephrosis, Antevert... |
OMIM:617127 |
| Emanuel Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Congenital hip dislocation, Abnormality of the ankles, ... |
ORPHA:96170 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
