| Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Short humerus, Hand polydactyly, Esophageal atresia, Absent radius, Enlarged kidn... |
OMIM:314390 |
| Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Deat... |
OMIM:200700 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplastic left heart, Short thumb, Hypoplasia of the radius, Short tibia, Nar... |
ORPHA:1972 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Broad nasal tip, Flattened epiphysis, Rhizomelia, Dislocated radial head, K... |
ORPHA:166016 |
| Faciocardiomelic Dysplasia, Lethal |
|
Single transverse palmar crease, Short thumb, Hypoplasia of the radius, Radial deviation of the h... |
OMIM:227270 |
| Rhombencephalosynapsis |
|
Esophageal atresia, Anal atresia, Polydactyly, Hydrocephalus, Short nose, Finger syndactyly, Agan... |
ORPHA:59315 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ventricle, Bro... |
OMIM:217095 |
| Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Increased carrying angle, Short tibia, Dorsal subluxation of ulna, Sh... |
OMIM:127300 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Subvalvular aortic stenosis, Complete atrioventricular canal defect, Posta... |
OMIM:217085 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal hip bone morphology, Syndactyly, Abnormal heart morphology, Upper limb phoc... |
ORPHA:294975 |
| Acromesomelic Dysplasia 2C |
|
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... |
OMIM:201250 |
| Osebold-Remondini Syndrome |
|
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Short tibia, Broad toe... |
OMIM:112910 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Anal atresia, Small thenar eminence, Miscarriage, Stage 5 chronic kidney disease,... |
OMIM:613390 |
| Omodysplasia 2 |
|
Cleft palate, Hypoplastic distal humeri, Short 1st metacarpal, Micropenis, Bifid nasal tip, Broad... |
OMIM:164745 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Enlarged kidney, Cleft palate, Bifid tongue, Cleft upper lip, Cone-s... |
OMIM:613091 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Diastema, Prominent nasal bridge, Preaxial polydactyly, Postaxial... |
OMIM:617927 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia, Abnormality of the lower limb, Abnormal epiphysis morphology, Lower limb undergrowt... |
ORPHA:2310 |
| Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
| Coffin-Siris Syndrome 11 |
|
Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Small hand, Bulbous no... |
OMIM:618779 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
| Orofaciodigital Syndrome Viii |
|
High palate, Broad nasal tip, Polydactyly, Bifid nasal tip, Short tibia, Syndactyly, Cleft palate... |
OMIM:300484 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr... |
OMIM:206920 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Single transverse palmar crease, Oligodactyly, High palate, Overlapping toe, Short tibia, Microgn... |
OMIM:201170 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Madelung deformi... |
ORPHA:240 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Limited elb... |
ORPHA:79106 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Micropenis, Short tibia, Short femur, Narrow mouth, Thin vermilion border, Hypoplasia of the ulna... |
OMIM:612447 |
| Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormality of fibula morphology, Hip dysplasia, Short nose, Microgn... |
ORPHA:1988 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Flat... |
ORPHA:1856 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Death in infancy, Micro... |
ORPHA:2098 |
| Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Missing ribs, Bilateral choanal atresia, Choanal atresia, Short nose, Neonata... |
OMIM:619859 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Short nose, Macrodontia, Short 5th finger, Cubitus valgus, Small hand, Clinodactyly,... |
OMIM:300577 |
| Fibular Hemimelia |
|
Oligodactyly, Increased laxity of ankles, Short tibia, Abnormal heart morphology, Toe syndactyly,... |
ORPHA:93323 |
| Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Micropenis, Duodenal atresia, Tracheoesophageal fistula, Ventricular septal d... |
OMIM:300514 |
| Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Aplasia/Hypoplasia of t... |
ORPHA:2256 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... |
ORPHA:85188 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Incomplete cleft of the upper lip, Cleft palate, Bifid tongue, Hypoplast... |
OMIM:616300 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Atrial septal defect, Horsesh... |
ORPHA:2538 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Broad toe, Preaxial foot poly... |
OMIM:186350 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Atrial septal defect, Broad thumb, Smooth philtrum, Micrognathia, Cleft soft ... |
OMIM:614526 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... |
ORPHA:3329 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Madelung def... |
OMIM:249700 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormality of the elbow, Micromelia, Humeroradial synostosis, ... |
ORPHA:2019 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... |
OMIM:619598 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Deviation of finger, Short humerus, Rhizomelia, Short nose, Short metacarpal, Deformed humeral he... |
ORPHA:2831 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Horseshoe kidney, Short tibia, Abnormality of the upper limb, Cleft palate, Toe ... |
ORPHA:1106 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect |
OMIM:614474 |
| Feingold Syndrome 2 |
|
Short thumb, Ventricular septal defect, Short middle phalanx of the 5th finger, Intestinal atresi... |
OMIM:614326 |
| Brachydactyly Type A1 |
|
Short thumb, Broad metacarpals, Distal symphalangism of hands, Short middle phalanx of finger, Sh... |
ORPHA:93388 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... |
OMIM:118651 |
| Ivic Syndrome |
|
Short thumb, Tetralogy of Fallot, Carpal synostosis, Short 1st metacarpal, Hypoplasia of the radi... |
OMIM:147750 |
| Langer Mesomelic Dysplasia |
|
High palate, Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic li... |
ORPHA:2632 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Depressed nasal tip, Camptodactyly of finger, Anal atresia, High palate, Dextrocardia, Tooth agen... |
ORPHA:2863 |
| Fibrochondrogenesis 1 |
|
Posterior vertebral hypoplasia, Rhizomelia, Broad long bones, Cleft palate, Narrow mouth, Patent ... |
OMIM:228520 |
| Feingold Syndrome Type 1 |
|
Short thumb, Horseshoe kidney, Abnormal heart morphology, Toe syndactyly, Tricuspid stenosis, Hyd... |
ORPHA:391641 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Absent proximal radial epiphyses, Narrow nose, Pes p... |
OMIM:249600 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly |
OMIM:605967 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Proximal placement of thumb, Ventricular septal defect, Atrial septal defect,... |
OMIM:610536 |
| Apert Syndrome |
|
Bifid uvula, Ventricular septal defect, Choanal atresia, Cleft palate, Ventriculomegaly, Broad th... |
OMIM:101200 |
| Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Metatarsal synostosis, Polysyndactyly of hallux, Short tibia, Short toe, Fibular ap... |
ORPHA:2756 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect |
OMIM:235750 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Fibular hypoplasia, Hypoplasia... |
ORPHA:2634 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... |
OMIM:619142 |
| Atelosteogenesis, Type I |
|
Clubbing, Rhizomelia, Short metatarsal, Cleft palate, Knee dislocation, Fibular aplasia, Multinuc... |
OMIM:108720 |
| Seckel Syndrome 1 |
|
Hip dislocation, Selective tooth agenesis, Cleft palate, Single transverse palmar crease, 11 pair... |
OMIM:210600 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia, Atrial septal defect, Ventricular septal defect, Abnormal morphology of the radius,... |
ORPHA:3469 |
| Duane-Radial Ray Syndrome |
|
Short thumb, Ventricular septal defect, Horseshoe kidney, Aplasia of metacarpal bones, Atrial sep... |
OMIM:607323 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Short nose, Patellar dislocation, Hypoplasia of penis, Long philtrum, ... |
ORPHA:93328 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Tetralogy of Fallot, Short tibia, Complete atrioventricular canal defect, Cleft palate, Absent na... |
OMIM:617925 |
| Vacterl Association With Hydrocephalus |
|
Anal atresia, Radial club hand, Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology, St... |
OMIM:276950 |
| Feingold Syndrome |
|
Esophageal atresia, Hallux valgus, Duodenal atresia, Deviation of the 2nd finger, Brachydactyly, ... |
ORPHA:1305 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hip dislocation, Proximal placement of thumb, Horseshoe kidney, Atrial septal defect, Short metat... |
OMIM:609945 |
| 3C Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr... |
ORPHA:7 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Prominent nasal bridge, Arrhinencephaly, Aqueductal stenosis, Finger syndactyly, Abnormal pelvic ... |
ORPHA:1788 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Abnormality of the lower limb, Anal atresia, Duplication involving bones of the feet |
OMIM:246000 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Single transverse palmar crease, Polycystic kidney dysplasia, Preaxial polydactyly, Postaxial pol... |
OMIM:617866 |
| Ophthalmomandibulomelic Dysplasia |
|
Elbow dislocation, Coxa valga, Mesomelia, Ulnar deviated club hands, Radioulnar dislocation, Radi... |
OMIM:164900 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, Wide capital femoral epiphyses, High palate, Patellar hypoplasia, Patellar disl... |
OMIM:147891 |
| Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... |
OMIM:607778 |
| Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Hypoplastic nas... |
OMIM:186500 |
| Holoprosencephaly 5 |
|
Hydrocephalus, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly, Ho... |
OMIM:609637 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Rhizomelia, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara,... |
OMIM:601438 |
| Apert Syndrome |
|
Esophageal atresia, Bifid uvula, Hydrocephalus, Finger syndactyly, Choanal atresia, Aplasia/Hypop... |
ORPHA:87 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Even-Plus Syndrome |
|
Anal atresia, High palate, Atrial septal defect, Bifid nasal tip, Short nose, Dysplasia of the fe... |
OMIM:616854 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Postaxial oligodactyly, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short 5th finger,... |
ORPHA:52056 |
| Fanconi Anemia, Complementation Group L |
|
Depressed nasal tip, Esophageal atresia, Anal atresia, Absent radius, Micropenis, Bilateral talip... |
OMIM:614083 |
| 15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Abnormal heart morphology, Narrow mouth, Intestinal atresia, Smooth ... |
ORPHA:94065 |
| Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, 3-4 finger syndactyly, Triangular tibia, Umbilical hernia, Disproportionate short... |
OMIM:619217 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft lower alveolar ridge, Hip dislocation, Short thumb, Proximal placement of thumb, Bifid uvul... |
OMIM:268305 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal defec... |
OMIM:220210 |
| Phocomelia, Schinzel Type |
|
Cleft palate, Micromelia, Fibular aplasia, Radial bowing, Hypoplasia of the radius, Foot oligodac... |
ORPHA:2879 |
| Acalvaria |
|
Postaxial hand polydactyly, Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Hypoplasia of penis, Micromeli... |
ORPHA:2491 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Absent radius, Genu varum, Phocomelia, Horseshoe kidney, Tetralogy of Fallot, Ab... |
ORPHA:3320 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Acrodysostosis |
|
Open mouth, Depressed nasal ridge, Abnormal morphology of ulna, Short metatarsal, Short nose, Sho... |
ORPHA:950 |
| Pfeiffer Syndrome Type 2 |
|
Anal atresia, High palate, Depressed nasal bridge, Hydrocephalus, Hallux varus, Aqueductal stenos... |
ORPHA:93259 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short humerus, Asymmetric radial dysplasia, Elbow dislocation, Absent radius, Genu varum, Phocome... |
OMIM:171480 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Abnormality of the dentition, Short nose, Anteverted nares, Toe syndactyly, Microgna... |
ORPHA:217340 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Abnormal palate morphology, Tetralogy of Fallot, Hypoplasia of penis, Genu valgum, ... |
ORPHA:1381 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Short humerus, Asymmetric radial dysplasia, Radial club hand, Abnormal nasal morphology, Deep phi... |
ORPHA:2878 |
| Acromesomelic Dysplasia 2B |
|
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... |
OMIM:228900 |
| W Syndrome |
|
Camptodactyly, Pes planus, Broad uvula, Broad nasal tip, Agenesis of maxillary central incisor, P... |
ORPHA:2804 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Hip dislocation, Tracheoesophageal fistula, Finger... |
ORPHA:958 |
| Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hy... |
OMIM:277150 |
| Maternal Phenylketonuria |
|
Esophageal atresia, High palate, Hypoplastic left heart, Ventricular septal defect, Tetralogy of ... |
ORPHA:2209 |
| Radial Aplasia, X-Linked |
|
Anal atresia, Absent radius, Penile hypospadias, Hydrocephalus |
OMIM:312190 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Short fe... |
OMIM:601357 |
| Cenani-Lenz Syndrome |
|
Oligodactyly, Foot oligodactyly, Hip dislocation, Short thumb, Short nose, Finger syndactyly, Syn... |
ORPHA:3258 |
| Mietens Syndrome |
|
Elbow ankylosis, Abnormality of fibula morphology, Hip dislocation, Hip dysplasia, Avascular necr... |
ORPHA:2557 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Postaxial hand polydactyly, Syndactyly, Hydrocephalus |
OMIM:615938 |
| Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Fibular aplasia, Mult... |
OMIM:300373 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Fractured radius, Micropenis, Decreased fibular diameter, Limb undergrowth, Ventr... |
OMIM:616897 |
| Distal Deletion 13Q |
|
Encephalocele, Holoprosencephaly, Abnormality of the hand, Abnormal metacarpal morphology, Anence... |
ORPHA:1590 |
| Short Rib-Polydactyly Syndrome |
|
Situs inversus totalis, Polycystic kidney dysplasia, Abnormal long bone morphology, Polydactyly, ... |
ORPHA:1505 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis, High palate, Proximal radial head dislocation, Proximal placement of thumb, Solit... |
OMIM:602418 |
| Trisomy 18 |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Choanal atresia, Abnorm... |
ORPHA:3380 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Everted lower lip vermilion, Downturned corners of mouth, Thick nasal alae, Long philt... |
OMIM:615162 |
| Pfeiffer Syndrome Type 3 |
|
Hydronephrosis, Anal atresia, High palate, Depressed nasal bridge, Horseshoe kidney, Hallux varus... |
ORPHA:93260 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Aqueductal stenosis, Short tibia,... |
OMIM:251230 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Polyhydramnios, Holoprosencephaly, Hydrocephalus, Hydranencephaly |
OMIM:617967 |
| Campomelic Dysplasia |
|
Hydronephrosis, Hip dislocation, Hypoplastic inferior ilia, Bowing of the long bones, Micrognathi... |
ORPHA:140 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Hypoplasia of pe... |
ORPHA:77298 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Micropenis, Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping toe, Po... |
OMIM:618142 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Lobulated tongue, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia... |
OMIM:258860 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Everted lower lip vermilion, Thick nasal alae, Long philtrum, Hypoplasia of the ulna, ... |
ORPHA:357175 |
| Vater/Vacterl Association |
|
Short thumb, Ventricular septal defect, Tetralogy of Fallot, Ureteropelvic junction obstruction, ... |
OMIM:192350 |
| Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Short thumb, Horseshoe kidney, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
| Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Toe syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, T... |
ORPHA:2378 |
| Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... |
ORPHA:75508 |
| Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, High palate, Broad nasal tip, Abnormality of the dentition, Bifi... |
OMIM:258865 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Oligodontia, Short thumb, Cleft palate, Carpal synostosis, Flared iliac ... |
ORPHA:90652 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal de... |
OMIM:615779 |
| Distal Deletion 10P |
|
Anal atresia, Abnormality of the elbow, Hypoplasia of penis, Cleft palate, Ectopic anus, Non-midl... |
ORPHA:1580 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Broad nasal tip, Atrial septal defect, Short nose, Shortening of all distal phalang... |
OMIM:614749 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Ventricular septal defe... |
OMIM:229850 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anal atresia, Absent radius, Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Aplasia of ... |
ORPHA:1352 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, ... |
OMIM:274000 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Short humerus, Limited elbow extension, Aplasia of the pectoralis major musc... |
OMIM:142900 |
| Cenani-Lenz Syndactyly Syndrome |
|
Pulmonic stenosis, Ectopic kidney, Syndactyly, Enamel hypoplasia, Premature loss of permanent tee... |
OMIM:212780 |
| Eiken Syndrome |
|
Oligodontia, Flattened epiphysis, Thick lower lip vermilion, Broad metatarsal, Eruption failure, ... |
OMIM:600002 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, High palate, Tetralogy of Fallot, Rhizomelia, Submucous cleft hard palate, Antever... |
OMIM:222765 |
| Codas Syndrome |
|
Proximal placement of thumb, Ventricular septal defect, Atrial septal defect, Atrioventricular ca... |
OMIM:600373 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Metaphyseal cupping, Pes cavus, Irregular capital femoral epiphysis, Short femoral... |
OMIM:616716 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Horseshoe kidney, Perimembranous ventricular septal defect, Abnormal heart ... |
ORPHA:363444 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal atresia, Gastroesophageal reflux, Esophageal stenosis, Esophageal food impaction, Esop... |
ORPHA:411696 |
| Ulnar Hypoplasia |
|
Radial dysplasia, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the ulna, ... |
OMIM:191440 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l... |
OMIM:271700 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Total anomalous pulm... |
OMIM:613854 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Absent thumb, Primum atrial septal defect, Anteriorly placed anus |
OMIM:615272 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral radial aplasia, Unilateral renal agenesis, Bicuspid aortic valve, Forearm reduction de... |
OMIM:614900 |
| Ulnar Hypoplasia With Mental Retardation |
|
Limited elbow movement, Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus |
OMIM:276821 |
| Feingold Syndrome 1 |
|
Depressed nasal tip, Esophageal atresia, High palate, Thick vermilion border, Short thumb, Duoden... |
OMIM:164280 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Anal atresia, High palate, Gastroesophageal reflux, Broad nasal tip, Prominent nasal bridge, Post... |
OMIM:613792 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Ulnar deviation of finger, Mesomelia, Micromelia, Talipes, Broad thumb, Metatarsus adductus, Hypo... |
ORPHA:2249 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Abnormality of the lower limb,... |
ORPHA:2141 |
| Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
| Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
| Vacterl With Hydrocephalus |
|
Esophageal atresia, Anal atresia, Hip dislocation, Tracheoesophageal fistula, Hydrocephalus, Spin... |
ORPHA:3412 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Limited elbow extension, Holoprosencephaly, Tapered finger |
OMIM:300706 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Hypoplasia of proximal fibula, Short distal phalanx of finger, Short metatars... |
OMIM:618150 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short humerus, High palate, Hip dislocation, Rhizomelia, Dislocated radial head, Hypoplastic scap... |
OMIM:602471 |
| Kinsship Syndrome |
|
Hip dislocation, Polydactyly, Horseshoe kidney, Ankyloglossia, Widely spaced teeth, Ventriculomeg... |
OMIM:619297 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Hip dysplasia, Limb undergrowth, Capitate-hamate fusion, Short nose, Sho... |
OMIM:614078 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Total anomalous pulmonary venous return, Atrioventricula... |
OMIM:613751 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Elbow dislocation, Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Gl... |
ORPHA:85170 |
| Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Anal atresia, Choanal atresia, Cutaneous syndactyly, Hypodontia, Clinodactyly, Neu... |
OMIM:119580 |
| Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Esophageal atresia, Metaphyseal cupping, Metaphyseal widening, Malabsorp... |
OMIM:250250 |
| Kyphomelic Dysplasia |
|
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... |
OMIM:211350 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Cleft palate, Anencephaly, Ectop... |
ORPHA:2476 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Ventriculomegaly, Micromelia, Single transverse palmar crease, Tibial bowing, Br... |
OMIM:612651 |
| Orofaciodigital Syndrome Vi |
|
Broad nasal tip, Hypoplastic left heart, Incomplete cleft of the upper lip, Preaxial foot polydac... |
OMIM:277170 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Pericardial effusion, Talipe... |
OMIM:613885 |
| Atelosteogenesis Type Ii |
|
Increased femoral anteversion, Rhizomelia, Cleft palate, Micromelia, Hypoplastic cervical vertebr... |
ORPHA:56304 |
| Orofaciodigital Syndrome X |
|
Cleft palate, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly, Depressed ... |
OMIM:165590 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Prominent nasal bridge, Short thumb, Ventricular septal defect, Ectopic kidney, Atrial septal def... |
ORPHA:401935 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius |
ORPHA:1122 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Cleft palate, ... |
ORPHA:440354 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hip dislocation, Hip dysplasia, Bifid uvula, Atrial septal defect, Pes cavus, Choanal atresia, Cl... |
OMIM:300968 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... |
ORPHA:2639 |
| Baller-Gerold Syndrome |
|
Malabsorption, Cleft palate, Narrow mouth, Aplasia/Hypoplasia of the patella, Hydronephrosis, Sho... |
ORPHA:1225 |
| Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Megacystis, Hiatus hernia, Volvulu... |
OMIM:619350 |
| Cocaine Embryofetopathy |
|
Encephalocele, Short distal phalanx of finger, Intestinal atresia |
ORPHA:1911 |
| Feingold Syndrome Type 2 |
|
Short thumb, Ventricular septal defect, Jejunal atresia, Short middle phalanx of finger, Toe synd... |
ORPHA:391646 |
| Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Hip dislocation, Abnormal heart morphology, Cleft palate... |
OMIM:114290 |
| Pallister-Hall-Like Syndrome |
|
Postaxial foot polydactyly, Hip dislocation, Micropenis, Hydrocephalus, Short ribs, Short nose, O... |
OMIM:241800 |
| Acheiropodia |
|
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... |
ORPHA:931 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Duodenal atresia, Submucous cleft hard palate, Unilateral renal agenesis, Cho... |
OMIM:619227 |
| Trisomy 1Q |
|
Hydronephrosis, Camptodactyly of finger, Long foot, Anal atresia, Ventricular septal defect, Hydr... |
ORPHA:261344 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Ventricular septal defect, Short nose, Deep philtrum, Everted lower lip vermilion, T... |
ORPHA:261120 |
| Postaxial Acrofacial Dysostosis |
|
Conical tooth, Midgut malrotation, Congenital hip dislocation, Micropenis, Short thumb, Pyloric s... |
OMIM:263750 |
| Acromicric Dysplasia |
|
Short nose, Short metacarpal, Abnormal epiphysis morphology, Anteverted nares, Narrow mouth, Long... |
ORPHA:969 |
| Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... |
ORPHA:93322 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Tetralogy of Fallot, Cleft palate, Ventriculomegaly, Multicystic ... |
ORPHA:2059 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... |
OMIM:208530 |
| Van Esch-O'Driscoll Syndrome |
|
Esophageal atresia, Bifid uvula, Ventricular septal defect, Atrial septal defect, Short nose, Pul... |
OMIM:301030 |
| Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Micropenis, Short thumb, Absent radius, Horseshoe kidney, Ectopic kidney, Tra... |
OMIM:227646 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Orofacial cleft, Convex nasal ridge, Lower limb undergrowth |
OMIM:218650 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Anal atresia, Wide nasal bridge |
OMIM:309620 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Penoscrotal transposition, Choanal atresia, Single transverse palmar crease, Camptod... |
OMIM:619148 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Increased nuchal translucency, Abnormal metaphysis morphology, Atrial septal defec... |
ORPHA:93274 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Abnormality of fibula morphology, Limb undergrowth, Rhizomelia, Multiple re... |
ORPHA:1190 |
| Acrocardiofacial Syndrome |
|
Split foot, Camptodactyly of finger, Anal atresia, Hallux valgus, Ventricular septal defect, Atri... |
ORPHA:2008 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Upper limb asymmetry, Anal atresia, Abnormality of fibula morphology, Hip dysplasia, Tooth agenes... |
ORPHA:2063 |
| Methimazole Embryofetopathy |
|
Esophageal atresia, Ventricular septal defect, Choanal atresia, Tracheoesophageal fistula, Hyposp... |
ORPHA:1923 |
| Acromesomelic Dysplasia 3 |
|
Short finger, Aplasia of the proximal phalanx of the 2nd finger, Bilateral talipes equinovarus, L... |
OMIM:609441 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Deviation of finger, Abnormal palate morphology, Abnormality of the ureter, Short... |
ORPHA:1450 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Postaxial hand polydactyly, Hydrocephalus |
OMIM:615937 |
| Hypoglossia-Hypodactyly Syndrome |
|
Short distal phalanx of finger, Anal atresia, High palate, Aplasia/Hypoplasia of the tongue, Jeju... |
ORPHA:989 |
| Boomerang Dysplasia |
|
Absent radius, Underdeveloped nasal alae, Hypoplastic iliac body, Neonatal death, Fibular aplasia... |
OMIM:112310 |
| Schisis Association |
|
Encephalocele, Anal atresia, Spina bifida, Unilateral cleft lip, Cleft palate, Micromelia, Anence... |
ORPHA:63862 |
| Distal Duplication 15Q |
|
Camptodactyly of finger, Anal atresia, High palate, Prominent nasal bridge, Downturned corners of... |
ORPHA:1707 |
| 17P13.3 Microduplication Syndrome |
|
High palate, Congenital hip dislocation, Short nose, Ventriculomegaly, Hypoplasia of penis, Wide ... |
ORPHA:217385 |
| Immunodeficiency 12 |
|
Clubbing, Death in adolescence, Recurrent aphthous stomatitis, Cheilitis, Esophageal stricture |
OMIM:615468 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus, Hypospadias |
ORPHA:141333 |
| Mirage Syndrome |
|
Radial club hand, Gastroesophageal reflux, Overlapping fingers, Microphallus, Hydrocephalus, Acha... |
OMIM:617053 |
| Lambert Syndrome |
|
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect |
ORPHA:1296 |
| Distal Deletion 12Q |
|
Polycystic kidney dysplasia, Supernumerary tooth, Microglossia, Patent foramen ovale, Smooth phil... |
ORPHA:96149 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metaphysis morphology, Short nose, Abnormal metacarpal morphology, Clinod... |
ORPHA:2370 |
| Cat-Eye Syndrome (Type I) |
|
Anal atresia, Abnormal heart morphology, Micrognathia |
DECIPHER:42 |
| Omodysplasia 1 |
|
Anterolateral radial head dislocation, Ventricular septal defect, Atrial septal defect, Rhizomeli... |
OMIM:258315 |
| Renpenning Syndrome |
|
Anal atresia, Cleft palate, High, narrow palate, Narrow mouth, Macrodontia, Broad columella, Shor... |
ORPHA:3242 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Recurrent upper respiratory tract infections, Micropenis, Short ribs, Rhizomelia, ... |
OMIM:607143 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Anal atresia, Brachydactyly |
ORPHA:1436 |
| Vacterl/Vater Association |
|
Tracheal stenosis, Hydronephrosis, Anal atresia, Ectopic kidney, Aplasia/Hypoplasia of the radius... |
ORPHA:887 |
| Van Den Ende-Gupta Syndrome |
|
Cleft palate, Narrow mouth, Narrow foot, Joint contracture of the hand, Camptodactyly of toe, Hal... |
OMIM:600920 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Tapered finger |
OMIM:619033 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Ventricular septal defect, Hydroureter, Meso... |
OMIM:146510 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Acrocallosal Syndrome |
|
Abnormal pulmonary valve morphology, Bifid uvula, Cleft palate, Preaxial foot polydactyly, Toe sy... |
OMIM:200990 |
| Stromme Syndrome |
|
Hydronephrosis, Prominent nasal bridge, Duodenal atresia, Preaxial polydactyly, Hydrocephalus, Je... |
OMIM:243605 |
| Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Death in infancy, Shortening of all distal phalanges of the finger... |
OMIM:619135 |
| Hadziselimovic Syndrome |
|
Anal atresia, High palate, Prominent nasal bridge, Atrial septal defect, Ventricular septal defec... |
OMIM:612946 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis |
OMIM:619817 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ventriculomegaly, Micromelia, Bifid tongue, Preaxial hand polydactyly, Cleft upper lip, Hydroneph... |
ORPHA:93271 |
| Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Finger syndactyly, Cleft palate, Non-midline cleft lip, Hypoplasia of th... |
ORPHA:246 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Catel-Manzke Syndrome |
|
Bifid uvula, Ventricular septal defect, Cleft palate, Narrow mouth, Short toe, Single transverse ... |
OMIM:616145 |
| Distal Deletion 10Q |
|
Hip dislocation, Hip dysplasia, Atrial septal defect, Horseshoe kidney, Short metatarsal, Cleft p... |
ORPHA:96148 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Ventricular septal defect, Preaxial foot polydactyly, Cleft palate, ... |
OMIM:134780 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Ureteral stenosis, Open mouth, Nephrocalcinosis, Abnormality of the dentition, Renal... |
OMIM:615398 |
| Cousin Syndrome |
|
Rhizomelia, Cleft palate, Fibular aplasia, Microglossia, Joint contracture of the hand, Hydroneph... |
OMIM:260660 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Palmoplantar blistering, Mitten deformity, Esophageal stricture, E... |
ORPHA:79409 |
| Distal Duplication 5Q |
|
Dextrocardia, Prominent nasal bridge, Ventricular septal defect, Short nose, Narrow mouth, Long p... |
ORPHA:96097 |
| Orofaciodigital Syndrome Xvii |
|
Micropenis, Polydactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, High, narrow palate, C... |
OMIM:617926 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Oligodactyly, Anal atresia, Rectal atresia, Hydrocephalus, Ectrodactyly, Hypoplasia of the radius... |
ORPHA:3016 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Anal atresia, High palate, Hip dysplasia, Ventricular septal defect, Atrial septal defect, Tetral... |
OMIM:612582 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Prominent nasal bridge, Hypoplasia of penis, Cleft palate, ... |
ORPHA:1703 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... |
ORPHA:1908 |
| Isolated Klippel-Feil Syndrome |
|
Anal atresia, Ventricular septal defect, Spina bifida, Cleft palate, Ectopic anus, Abnormal shoul... |
ORPHA:2345 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, High palate, Pulmoni... |
ORPHA:3098 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect, Cleft palate, ... |
ORPHA:94066 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand |
ORPHA:1118 |
| Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Esophageal atresia, Micropenis, Urethral diverticulum, Cleft palate, Ventral shorte... |
ORPHA:95706 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Atrial septal defe... |
ORPHA:1860 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short distal phalanx of finger, Nephrocalcinosis, Aplasia/Hypoplasia involving the metacarpal bon... |
OMIM:268310 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Anal atresia, Broad nasal tip, Delayed ossification of carpal bones, Coxa valga, Dislocated radia... |
OMIM:617425 |
| Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Microphthalmia, Split hand, Aplasia/Hypoplasia of the radius |
ORPHA:2117 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Broad nasal tip, Midline defect of the nose, Polydactyly, Preaxial polydactyly, Bi... |
OMIM:603671 |
| Ring Chromosome 21 Syndrome |
|
Narrow palm, Syndactyly, Holoprosencephaly, Abnormal heart morphology, Small hand, Clinodactyly |
ORPHA:1445 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
| Acro-Renal-Ocular Syndrome |
|
Short thumb, Tetralogy of Fallot, Horseshoe kidney, Toe syndactyly, Short hallux, Preaxial hand p... |
ORPHA:959 |
| Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Absent hand, Abnormality of the humerus, Camptodactyly of finger,... |
ORPHA:3138 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia, Radial dysplasia, Hydrocephalus, Agenesis of permanent teeth, Pelvic kidney, Absent... |
OMIM:617244 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Postaxial foot polydactyly, Anal atresia, High palate, Hypoplastic left heart, Ve... |
ORPHA:2473 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Deep philtrum, Short metacarpal, Anteverted nares, Narrow mouth, Short l... |
OMIM:102370 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Abnormality of the knee, Abnormality of the lower limb, Abnormality of the elbow, Esophageal stri... |
ORPHA:158673 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Anal atresia, Hip dysplasia |
ORPHA:195 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly, Preaxial foot pol... |
ORPHA:380 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Proteinuria, Hand polydactyly, Chronic kidney disease, Renal cyst, Early ossification of capital ... |
OMIM:208500 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Cleft palate, Carious teeth, 1... |
OMIM:117650 |
| Emanuel Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cleft palate, Ventriculomegaly, Truncus arterios... |
OMIM:609029 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Anal atresia, Bilateral cleft lip and palate, Finger syndactyly, Carious teeth |
ORPHA:1997 |
| Fg Syndrome Type 1 |
|
Atrial septal defect, Choanal atresia, Ventriculomegaly, Single transverse palmar crease, Mitral ... |
ORPHA:93932 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis, Ventricular septal defect, Polysyndactyly of hallux, Sho... |
OMIM:263520 |
| Cranioectodermal Dysplasia 1 |
|
Broad distal phalanges of all fingers, Short distal phalanx of finger, Flattened epiphysis, Rhizo... |
OMIM:218330 |
| Otoonychoperoneal Syndrome |
|
Aplasia/Hypoplasia of the fibula, Knee flexion contracture, Ankle flexion contracture, Hip contra... |
OMIM:259780 |
| Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, Broad nasal tip, Choanal atresia, Long fingers, Narrow mouth, 2-5... |
OMIM:617746 |
| Achondroplasia |
|
Limited elbow extension, Depressed nasal bridge, Genu varum, Hydrocephalus, Short ribs, Rhizomeli... |
OMIM:100800 |
| 3M Syndrome |
|
Congenital hip dislocation, Abnormal metaphysis morphology, Abnormality of the elbow, Abnormal de... |
ORPHA:2616 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydronephrosis, Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Abnormality... |
ORPHA:1834 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Esophageal stricture, Dysphagia, Palmoplantar keratoderma, Delayed eruption of... |
OMIM:616029 |
| Cat Eye Syndrome |
|
Rectal fistula, Hypoplastic left heart, Ventricular septal defect, Horseshoe kidney, Atrial septa... |
OMIM:115470 |
| Upper Limb Mesomelic Dysplasia |
|
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing |
ORPHA:2497 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Postaxial foot polydactyly, Anal atresia, Dextrocardia, Micropenis, Median cleft l... |
OMIM:264480 |
| Opitz-Kaveggia Syndrome |
|
Choanal atresia, Abnormal heart morphology, Cleft palate, Broad thumb, Narrow palate, Single tran... |
OMIM:305450 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Orbital encephalocele, Anophthalmia, Microphthalmia, Agenesis of corp... |
OMIM:164180 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the dentition, Abnormality of fibula morphology, Abnormal metaphysis morphology, A... |
ORPHA:1837 |
| Otopalatodigital Syndrome, Type Ii |
|
Short thumb, Atrial septal defect, Short metatarsal, Rocker bottom foot, Cleft palate, Toe syndac... |
OMIM:304120 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Abnormal palate morphology, Short metatarsal, Short metacarpal, Broad thumb, Wi... |
ORPHA:1278 |
| Prune Belly Syndrome |
|
Anal atresia, Congenital hip dislocation, Ventricular septal defect, Atrial septal defect, Abnorm... |
ORPHA:2970 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Microgn... |
ORPHA:3104 |
| 1Q21.1 Microduplication Syndrome |
|
Gastroesophageal reflux, Hip dislocation, Hip dysplasia, Tetralogy of Fallot, Hydrocephalus, Tali... |
ORPHA:250994 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Inflammation of the large intestine, Neoplasm of the urethra, Phimosis, ... |
ORPHA:2908 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Abnormal palate morphology, Short nose, Death i... |
ORPHA:1495 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Cleft palate, Anteverted nares, Micrognathia, Thin upper lip vermilion |
ORPHA:2015 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... |
OMIM:246570 |
| Shox-Related Short Stature |
|
Forearm undergrowth, High palate, Lower limb undergrowth, Madelung deformity, Cubitus valgus, Mic... |
ORPHA:314795 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Cleft palate, Aplasia/Hypoplas... |
ORPHA:2839 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Micropenis, Short lingual frenulum, Trident pelvis, Widely spaced teeth, Microdont... |
OMIM:619479 |
| Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Hydrocephalus, Cleft palate, Preaxial foot polydactyly, Ventriculomeg... |
OMIM:614120 |
| Orofaciodigital Syndrome Type 2 |
|
Y-shaped metacarpals, Polysyndactyly of hallux, Atrioventricular canal defect, Short tibia, Preax... |
ORPHA:2751 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in childhood, Polycystic kidney dysplasia, Hip dislocation, Short thumb, Tetralogy of Fallo... |
OMIM:210710 |
| Steinfeld Syndrome |
|
Bifid uvula, Phocomelia, Median cleft lip and palate, Missing ribs, Holoprosencephaly, Aplasia/Hy... |
OMIM:184705 |
| Lowe-Kohn-Cohen Syndrome |
|
Anal atresia, Nephropathy, Anorectal anomaly |
ORPHA:2408 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Stuve-Wiedemann Syndrome 1 |
|
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... |
OMIM:601559 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Tetralogy of Fallot, Cleft palate, Ventriculomegaly, Thin vermilion border, Smooth philtrum, Enam... |
OMIM:614701 |
| Atrial Septal Defect 2 |
|
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... |
OMIM:605274 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Short 5th finger, Hypoplasia of the radius, Anal stenosis, Short 5th t... |
OMIM:181450 |
| Greig Cephalopolysyndactyly Syndrome |
|
Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Hydrocephalus, Umbilical... |
OMIM:175700 |
| Emanuel Syndrome |
|
Tooth malposition, Bifid uvula, Ventricular septal defect, Atrial septal defect, Submucous cleft ... |
ORPHA:96170 |
| Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, High palate, Hand polydactyly, Hip dislocation, Abnormality of the u... |
OMIM:200980 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb, Agenesis of corpus callosum |
ORPHA:2182 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Syndactyly, Stillbirth, Duplication of phalanx o... |
OMIM:263630 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Short nose, Microdontia, Cleft palate, Short colu... |
ORPHA:1248 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Long nose, Camptodactyly, Anal atresia, High palate, Intestinal malrotation, Ventricular septal d... |
OMIM:617602 |
| Orofaciodigital Syndrome Xi |
|
Gastroesophageal reflux, Postaxial polydactyly, Cleft palate, Bulbous nose, Wide nasal bridge, Hy... |
OMIM:612913 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Hydroureter, Tetralogy o... |
OMIM:265380 |
| Triploidy |
|
Hydrocephalus, Meningocele, Polyhydramnios, Finger syndactyly, Holoprosencephaly, Abnormal cardia... |
ORPHA:3376 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Short nose, Lateral ventricle dilatation, Ventriculomegaly, Anteverted nares, Downturned corners ... |
OMIM:613443 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the... |
OMIM:256200 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Patellar dislocati... |
OMIM:618395 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Holoprosencephaly, Adducted thumb, Hydranencephaly |
ORPHA:2570 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Tooth malposition, Cleft palate, Cone-shaped epi... |
OMIM:309350 |
| Meckel Syndrome 14 |
|
Increased nuchal translucency, Postaxial foot polydactyly, Mitral regurgitation, Postaxial polyda... |
OMIM:619879 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of the uvula, Hip dislocation, Tetralogy of Fallot, Atrial septal defect, Hydr... |
ORPHA:84 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Gastroesophageal reflux, Hip dysplasia, Abnormal metaphysis morphology, Irregu... |
ORPHA:93316 |
| Hyperparathyroidism, Transient Neonatal |
|
Metaphyseal spurs, Gastroesophageal reflux, Enlarged kidney, Communicating hydrocephalus, Short r... |
OMIM:618188 |
| Boomerang Dysplasia |
|
Abnormality of the humerus, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormal morphol... |
ORPHA:1263 |
| Trisomy 12P |
|
Anal atresia, Short nose, Cleft palate, Everted lower lip vermilion, Downturned corners of mouth,... |
ORPHA:1699 |
| Baller-Gerold Syndrome |
|
Oligodactyly, Bifid uvula, Aplasia of metacarpal bones, Aphalangy of the hands, Cleft palate, Abn... |
OMIM:218600 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Tracheal stenosis, Anal atresia, Aplasia/Hypoplasia involving the pelvis, Hydrocephalus, Missing ... |
ORPHA:3301 |
| Oculofaciocardiodental Syndrome |
|
