| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... |
OMIM:200700 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... |
OMIM:186350 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Microglossia, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, S... |
ORPHA:1972 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Metatarsus adductus, Micrognathia, Flat capital femoral epiphysis, Cleft pal... |
OMIM:601560 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Micrognathia, Fragmented epiphyses, Broad nasal tip, Rhizomelia, Epiphyseal dysp... |
ORPHA:166016 |
| Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
| Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Talipes, Neonatal death, Microglossia, Fibular hypoplasia, Short 5th finger, Hypopl... |
OMIM:227270 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
| Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... |
OMIM:127300 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Microretrognathia, Polydactyly, Short nose, Esophageal atresia, Complete d... |
ORPHA:59315 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Atrioventricular canal defect, Proximal placement of thumb, Ana... |
OMIM:314390 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal heart morphology, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal c... |
ORPHA:294975 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Broad hallux, Postaxial hand... |
OMIM:217085 |
| Acromesomelic Dysplasia 2C |
|
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... |
OMIM:201250 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Fanconi Anemia, Complementation Group L |
|
Renal hypoplasia, Cleft palate, Depressed nasal bridge, Esophageal atresia, Wide nasal bridge, An... |
OMIM:614083 |
| Omodysplasia 2 |
|
Limited elbow flexion, Hypospadias, Depressed nasal bridge, Long philtrum, Dislocated radial head... |
OMIM:164745 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... |
OMIM:112910 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Coffin-Siris Syndrome 11 |
|
High palate, Depressed nasal bridge, Wide mouth, Cleft soft palate, Small hand, Bifid uvula, Esop... |
OMIM:618779 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Cleft palate, Talipes equinovarus, Camptodactyl... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cleft palate, Talipes equinovarus, Hamartoma of tongue, Short ribs, Micropenis, Fem... |
OMIM:613091 |
| Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... |
OMIM:617927 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of femur morphology, Abnormality of epiphysis morphology, Lower limb undergrowth, Abn... |
ORPHA:2310 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Neonatal death, Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius,... |
OMIM:601376 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Prominent nose, Micrognathia, High palate, Triphalangeal thumb, Short philtrum, Talipes equinovar... |
OMIM:201170 |
| Orofaciodigital Syndrome Viii |
|
Cleft palate, High palate, Polydactyly, Broad nasal tip, Syndactyly, Bifid nasal tip, Median clef... |
OMIM:300484 |
| Femoral-Facial Syndrome |
|
Micrognathia, Cleft palate, Talipes equinovarus, Long penis, Long philtrum, Short nose, Ventricul... |
ORPHA:1988 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Thin vermilion border, Micropenis, Narrow m... |
OMIM:612447 |
| Eiken Syndrome |
|
Limited elbow flexion, Broad palm, Abnormal acetabulum morphology, Narrow pelvis bone, Cubitus va... |
ORPHA:79106 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... |
ORPHA:2098 |
| Mental Retardation, X-Linked 91 |
|
High palate, Cubitus valgus, Small hand, Short nose, Short 5th finger, Short foot, Clinodactyly, ... |
OMIM:300577 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Death in infancy, Duodenal atresia, Bilateral radial aplasia, Esophage... |
OMIM:300514 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Rectal atr... |
OMIM:613390 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
| Apert Syndrome |
|
Pyloric stenosis, Cutaneous finger syndactyly, Cleft palate, Delayed eruption of teeth, Hydroceph... |
OMIM:101200 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Micrognathia, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of ... |
ORPHA:2256 |
| Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Smooth philtrum, Cleft soft palate, Esophageal atresia, Atrial septal defect, Broad... |
OMIM:614526 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Postaxial polydactyly, Atrioventricular canal defect, Lim... |
OMIM:619142 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Arrhinencephaly, Truncus arteriosus, Phocomelia, Aplastic clavicle, Abnormality of ... |
ORPHA:2538 |
| Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Rhizomelia, Wide nose, Short nose, Genu valgum, Deviation of finger, Coxa ... |
ORPHA:2831 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Abnormal morphology of the radius, Anal atresia, Atrial septal defect,... |
ORPHA:3469 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... |
OMIM:619598 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Death in infancy, Short nose, Hypoplasia of the radius, Anteverted nares, Hypoplastic pelvis, Mic... |
OMIM:602613 |
| Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Narrow nose, Pes planus, Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion ... |
OMIM:249600 |
| Brachydactyly Type A1 |
|
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... |
ORPHA:93388 |
| Orofaciodigital Syndrome Type 10 |
|
Accessory oral frenulum, Prominent calcaneus, Short toe, Radial deviation of the hand, Short tibi... |
ORPHA:2756 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, 3-4 toe syndactyly, Short middle phalanx of the 5t... |
OMIM:614326 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling |
OMIM:600121 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Atrial septal defect, Postaxial oligoda... |
OMIM:608571 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Depressed nasal ridge, Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergro... |
OMIM:118651 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Depressed nasal bridge, Duodenal atresia, Esophageal... |
ORPHA:1305 |
| Ivic Syndrome |
|
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Short 1st metacarpal, Shor... |
OMIM:147750 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Radial club hand, Abnormal heart morphology, Stillbirth, Anal atresia, Hydrocep... |
OMIM:276950 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Micrognathia, High palate, Depressed nasal bridge, Rhizomelia, Wide nasal bridge, Stippled calcif... |
OMIM:222765 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Micrognathia, Cleft palate, Ventricular septal defect, Short nose, Proximal placement of thumb, E... |
OMIM:610536 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Micrognathia, Ventricular septal defect, Anteriorly placed anus, Atrioventricular canal defect, W... |
OMIM:600123 |
| Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Short middle phalanx of finger, Duodenal atresia, Tricuspid stenosis, Multipl... |
ORPHA:391641 |
| Langer Mesomelic Dysplasia |
|
Abnormality of the ulna, High palate, Abnormality of epiphysis morphology, Ulnar deviation of fin... |
ORPHA:2632 |
| Fibrochondrogenesis 1 |
|
Broad ischia, Cleft palate, Short nose, Joint contracture of the hand, Short ribs, Camptodactyly,... |
OMIM:228520 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Wide ... |
ORPHA:2863 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Autosomal Dominant Omodysplasia |
|
Micrognathia, Depressed nasal bridge, Long philtrum, Rhizomelia, Short nose, Short 1st metacarpal... |
ORPHA:93328 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
| Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Hypospadias, Cleft palate, Short metatarsal, Short ribs, Hydrocepha... |
OMIM:304120 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, ... |
ORPHA:52056 |
| Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Cleft palate, Death in infancy, Talipes equinovarus, Finger syndactyly, Hydrocep... |
ORPHA:1106 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Micrognathia, Ventricular septal defect, Truncus arteriosus, Neonatal death, Re... |
OMIM:228940 |
| 3C Syndrome |
|
Hypospadias, Cleft palate, Death in infancy, Short nose, Finger syndactyly, Hydrocephalus, Hand p... |
ORPHA:7 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Cleft palate, Absent nasal bridge, Hamartoma of tongue, Neonatal death, Short ribs, Cleft lip, Mi... |
OMIM:617925 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Choroid plexus cyst, 2-3 toe syndactyly, Radial bowing, Micrognathia, Postaxial polydactyly, Ulna... |
OMIM:617866 |
| Holoprosencephaly 5 |
|
Lobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Central diabetes insipidus, Hydrocep... |
OMIM:609637 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate, Short humerus |
OMIM:191000 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Microphthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Seckel Syndrome 1 |
|
Hypospadias, Cleft palate, Pes planus, 11 pairs of ribs, Elbow flexion contracture, Cone-shaped e... |
OMIM:210600 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| Atelosteogenesis, Type I |
|
Cleft palate, Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short... |
OMIM:108720 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Pes planus, Hypoplasia of the radius, Syndactyly, Short humerus, Upper limb ... |
OMIM:607323 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Abnormality of the lower limb, Duplication involving bones of the feet, Anal atresia |
OMIM:246000 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... |
OMIM:164900 |
| Apert Syndrome |
|
Toe syndactyly, Cleft palate, Depressed nasal bridge, Ectopic anus, Convex nasal ridge, Aplasia/H... |
ORPHA:87 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Micrognathia, Cleft palate, Flat capital femoral epiphysis, Patellar aplasia, ... |
OMIM:147891 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Absent tibia, Talipes equinovarus, Short metatarsal, Short nose, Proximal placement ... |
OMIM:609945 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... |
OMIM:601438 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Dandy-Walker malformation, Micrognathia, Cleft palate, Hydronephrosis, Depressed nas... |
OMIM:220210 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Long philtrum, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial... |
ORPHA:2878 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Sandal gap, Anteverted nar... |
ORPHA:217340 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:2523 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial hand polydactyly |
ORPHA:945 |
| Phocomelia, Schinzel Type |
|
Cleft palate, Short nose, Hypoplasia of the radius, Aplasia/Hypoplasia involving the pelvis, Abno... |
ORPHA:2879 |
| Hydrolethalus Syndrome 2 |
|
Micrognathia, Cleft palate, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Ventriculom... |
OMIM:614120 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Holoprosencephaly, Hydranencephaly, Hydrocephalus, Polyhydramnios |
OMIM:617967 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
| Acrodysostosis |
|
Depressed nasal ridge, Abnormality of the ulna, Depressed nasal bridge, Cone-shaped epiphysis, Op... |
ORPHA:950 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Abnormal palate morphology, Anal atresia, Genu valgum, Tetralogy of Fallot, Hypoplas... |
ORPHA:1381 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Arrhinencephaly, Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia ... |
ORPHA:1788 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
| Pfeiffer Syndrome Type 2 |
|
Broad hallux phalanx, Toe syndactyly, Cleft palate, High palate, Depressed nasal bridge, Broad th... |
ORPHA:93259 |
| Pallister W Syndrome |
|
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Depressed nasal bridge, Broad na... |
OMIM:311450 |
| Campomelic Dysplasia |
|
Depressed nasal ridge, Shortening of all phalanges of the toes, Shortening of all phalanges of fi... |
OMIM:114290 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... |
ORPHA:3320 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Proximal placement of thumb, Hypoplasia... |
OMIM:268305 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... |
OMIM:615779 |
| Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 f... |
OMIM:619217 |
| Maternal Phenylketonuria |
|
Micrognathia, High palate, Ventricular septal defect, Long philtrum, Bifid distal phalanx of the ... |
ORPHA:2209 |
| Brachymesomelia-Renal Syndrome |
|
Micrognathia, Depressed nasal bridge, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia,... |
OMIM:113470 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
| Acromelic Frontonasal Dysostosis |
|
Choroid plexus cyst, Cleft palate, Broad nasal tip, Polydactyly, Talipes equinovarus, U-Shaped up... |
OMIM:603671 |
| Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence |
|
Holoprosencephaly, Microcephaly |
OMIM:306990 |
| Radial Aplasia, X-Linked |
|
Anal atresia, Penile hypospadias, Hydrocephalus, Absent radius |
OMIM:312190 |
| Van Bogaert-Hozay Syndrome |
|
Micrognathia, Depressed nasal bridge, Tooth malposition, Distal ulnar hypoplasia, Osteolytic defe... |
OMIM:277150 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Short philtrum, Talipes equinovarus, Rhizomelia, Wide nose, Short ribs, Hypoplasia o... |
OMIM:607143 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Micrognathia, Cleft palate, Hydronephrosis, Adducted th... |
OMIM:616897 |
| Osteopathia Striata With Cranial Sclerosis |
|
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Joint contracture of the hand, Hydrocep... |
OMIM:300373 |
| W Syndrome |
|
Metatarsus adductus, Radial bowing, Depressed nasal bridge, Broad nasal tip, Agenesis of maxillar... |
ORPHA:2804 |
| Trisomy 18 |
|
Cleft palate, Short nose, Deviation of finger, Camptodactyly of finger, Choanal atresia, Microret... |
ORPHA:3380 |
| Mental Retardation, Autosomal Recessive 35 |
|
Micrognathia, Long philtrum, Wide nose, Downturned corners of mouth, Everted lower lip vermilion,... |
OMIM:615162 |
| Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Absent thumb |
OMIM:615272 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Depressed nasal ridge, High palate, Hypodontia, Dysplasia of the femoral head, ... |
OMIM:616854 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Micrognathia, Long philtrum, Wide nose, Everted lower lip vermilion, Thin upper lip vermilion, Hy... |
ORPHA:357175 |
| Angioosteohypotrophic Syndrome |
|
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Abnormal foot mor... |
ORPHA:75508 |
| Distal Monosomy 13Q |
|
Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the... |
ORPHA:1590 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Mietens Syndrome |
|
Metatarsus adductus, Elbow ankylosis, Talipes, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:2557 |
| Pfeiffer Syndrome Type 3 |
|
Broad hallux phalanx, Toe syndactyly, Cleft palate, High palate, Horseshoe kidney, Hydronephrosis... |
ORPHA:93260 |
| Acro-Renal-Mandibular Syndrome |
|
Micrognathia, High palate, Short philtrum, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
| Campomelic Dysplasia |
|
Micrognathia, Small abnormally formed scapulae, Tibial bowing, Cleft palate, Talipes equinovarus,... |
ORPHA:140 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, High, narrow palate, Convex nasal ridge, Hypodontia, Short philtrum, Oligodactyly... |
ORPHA:3258 |
| Pallister-Hall-Like Syndrome |
|
Micrognathia, Cleft palate, Depressed nasal bridge, Death in infancy, Abnormal heart morphology, ... |
OMIM:241800 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Ventricular septal defect, Holoprosencephaly, Esophageal atresia, 11 pairs of ribs, ... |
ORPHA:77298 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormalit... |
ORPHA:2378 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Hypospadias, Cleft palate, Short ribs, Urogenital sinus anomaly, Cleft... |
ORPHA:1505 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminenc... |
OMIM:142900 |
| Eiken Syndrome |
|
Short middle phalanx of finger, Oligodontia, Pseudoepiphyses, Long hallux, Type A1 brachydactyly,... |
OMIM:600002 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
| Juberg-Hayward Syndrome |
|
Hypospadias, Toe syndactyly, Horseshoe kidney, Dandy-Walker malformation, Abnormality of the elbo... |
ORPHA:2319 |
| Fryns Syndrome |
|
Hypospadias, Arrhinencephaly, Cleft palate, Duodenal atresia, Proximal placement of thumb, Joint ... |
OMIM:229850 |
| Codas Syndrome |
|
Metaphyseal dysplasia, Pes valgus, Proximal placement of thumb, Delayed eruption of teeth, Short ... |
OMIM:600373 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Absent ... |
ORPHA:1352 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
| Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Aganglionic megacolon, Metaphyseal wid... |
OMIM:250250 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Cleft palate, Hypoplasia of the radius, Abnormal digit morphology, Absent ... |
OMIM:614900 |
| Vater/Vacterl Association |
|
Patent urachus, Hypospadias, Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Ureterope... |
OMIM:192350 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... |
OMIM:218530 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Hydrocephalus, Camptod... |
ORPHA:90652 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Cleft palate, Ectopic anus, Anencephaly, Aplasia/Hypoplasia of the rad... |
ORPHA:2476 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Smooth philtrum, Proximal placement of thumb, Intestinal atresia, Depressed nasal br... |
ORPHA:94065 |
| Ulnar Hypoplasia |
|
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... |
OMIM:191440 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Lactose intolerance, Dysphagia, Allergic rhinitis, Esophageal furrows, Esophagitis, Abnormal peri... |
ORPHA:411696 |
| Vacterl With Hydrocephalus |
|
Micrognathia, Arrhinencephaly, Absence of the sacrum, Hypoplasia of the radius, Esophageal atresi... |
ORPHA:3412 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus |
OMIM:276821 |
| Distal Monosomy 10P |
|
Micrognathia, Cleft palate, Convex nasal ridge, Ectopic anus, Abnormality of the elbow, Wide nasa... |
ORPHA:1580 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Cleft palate, High palate, Hamartoma of tongue, Postaxial polydacty... |
OMIM:258860 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... |
OMIM:616716 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Carious teeth, Smooth philtrum, Low hanging columella, Micropenis, Unilateral renal ... |
ORPHA:363444 |
| Cousin Syndrome |
|
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... |
OMIM:260660 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Carious teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Midline notch of upper alve... |
OMIM:129540 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Limited elbow extension, Tapered finger |
OMIM:300706 |
| Blepharocheilodontic Syndrome 1 |
|
Hypodontia, Neural tube defect, Cleft upper lip, Clinodactyly, Anal atresia, Conical tooth, Choan... |
OMIM:119580 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Cleft palate, High palate, Broad nasal tip, Accessory oral frenulum, Hand polydac... |
OMIM:258865 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615938 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Micrognathia, High palate, Depressed nasal bridge, Ventricular septal defect, Postaxial polydacty... |
OMIM:618142 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Metatarsus adductus, Broad hallux phalanx, Talipes, Ulnar deviation of finger, Hypoplasia of the ... |
ORPHA:2249 |
| Van Den Ende-Gupta Syndrome |
|
Hallux valgus, Cleft palate, Talipes equinovarus, Joint contracture of the hand, Long hallux, Fem... |
OMIM:600920 |
| Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Aganglionic megacolon, Cleft palate, Broad nasal tip, Shortening of all distal phalanges of the f... |
OMIM:614749 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Abnormality of the diencephalon, Adducted thumb, Holoprosencephaly, Aplasia/Hypo... |
ORPHA:2570 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Abnormal heart morphology, Absent tibia, Polydactyly |
OMIM:188740 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... |
ORPHA:93316 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cleft palate, Micropenis, Syndactyly, Hydrocephalus, Micrognathia, Ulnar deviation o... |
OMIM:612651 |
| Feingold Syndrome 1 |
|
2-3 toe syndactyly, Micrognathia, High palate, 4-5 toe syndactyly, Duodenal atresia, Aplasia/Hypo... |
OMIM:164280 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Amelia, Bilateral cleft lip and palate, Ventricular septal defect, Foot oligodactyly, Holoprosenc... |
OMIM:601357 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... |
ORPHA:401935 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
| Microcephaly-Micromelia Syndrome |
|
Micrognathia, Cleft palate, Convex nasal ridge, Talipes equinovarus, Wide nose, Absent radius, Sh... |
OMIM:251230 |
| Baller-Gerold Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hydrocephalus, Short hum... |
OMIM:218600 |
| Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Megacystis, Volvulus, Es... |
OMIM:619350 |
| Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
| Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
| Kyphomelic Dysplasia |
|
Micrognathia, Tibial bowing, Radial bowing, Cleft palate, Talipes equinovarus, Depressed nasal br... |
OMIM:211350 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot |
ORPHA:1122 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Cleft palate, Smooth philtrum, Bulbous nose, Choanal atresia, Prominent nose, Depressed nasal bri... |
OMIM:300968 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Mitten deformity, Esophageal stricture, Palmoplantar blistering, Urethral strictur... |
ORPHA:79409 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, High palate, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral ... |
OMIM:602471 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
| Orofaciodigital Syndrome X |
|
Fibular aplasia, Cleft palate, Hand oligodactyly, Depressed nasal bridge, Coalescence of tarsal b... |
OMIM:165590 |
| Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Micrognathia, Cleft palate, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Glossoptosis,... |
ORPHA:440354 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Anal atresia |
OMIM:617244 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of t... |
ORPHA:2669 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Muscular ventricular septal defect, Wide nose, Esophageal atresia, Tracheoesoph... |
OMIM:619227 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... |
ORPHA:2141 |
| Meier-Gorlin Syndrome 7 |
|
Hypospadias, Complete atrioventricular canal defect, 2-3 toe syndactyly, Aplasia/Hypoplasia of th... |
OMIM:617063 |
| Mirage Syndrome |
|
Hypospadias, Radial club hand, Rocker bottom foot, Talipes equinovarus, Achalasia, Overlapping fi... |
OMIM:617053 |
| Tibial Hemimelia |
|
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft pala... |
ORPHA:93322 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Jejunal atresia, Short... |
ORPHA:391646 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, A... |
ORPHA:1908 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Tapered finger, Holoprosencephaly, Short finger, Brachydactyly, Short toe, Agenesis of corpus cal... |
OMIM:610680 |
| Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Cleft palate, Excessive femoral anteversion, Hitchhike... |
ORPHA:56304 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
High palate, Depressed nasal bridge, Nephrocalcinosis, Long philtrum, Restrictive cardiomyopathy,... |
OMIM:615398 |
| Fanconi Anemia, Complementation Group D2 |
|
Horseshoe kidney, Pelvic kidney, Ectopic kidney, Abnormal heart morphology, Esophageal atresia, A... |
OMIM:227646 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacar... |
OMIM:614078 |
| Acromicric Dysplasia |
|
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... |
ORPHA:969 |
| Baller-Gerold Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Short nose, Apla... |
ORPHA:1225 |
| Ring Chromosome 21 Syndrome |
|
Narrow palm, Holoprosencephaly, Abnormal heart morphology, Small hand, Syndactyly, Clinodactyly, ... |
ORPHA:1445 |
| Postaxial Acrofacial Dysostosis |
|
Pyloric stenosis, Midgut malrotation, Micrognathia, Cleft palate, Abnormal foot morphology, Cleft... |
OMIM:263750 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Short long bone, Brachydactyly, M... |
OMIM:611702 |
| Acrocardiofacial Syndrome |
|
Hypospadias, Hallux valgus, Toe syndactyly, Cleft palate, Death in infancy, Truncus arteriosus, V... |
ORPHA:2008 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Cleft palate, Proximal radial head dislocation, Hand oligodactyly, High palate, Hyd... |
OMIM:602418 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
| Kinsship Syndrome |
|
Death in infancy, Smooth philtrum, Pes planus, Low hanging columella, Bulbous nose, Thin upper li... |
OMIM:619297 |
| Schisis Association |
|
Cleft palate, Anencephaly, Anal atresia, Unilateral cleft lip, Spina bifida, Tracheoesophageal fi... |
ORPHA:63862 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of hallux, Nephrotic syndrome, Bifid distal phalanx of the thumb, Partial du... |
OMIM:256200 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Depressed nasal bridge, Dental malocclusion, Dental crowding, Long philtrum, Cleft ... |
OMIM:616331 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Depressed nasal bridge, Ventricular septal defect, Lon... |
ORPHA:261120 |
| 17P13.3 Microduplication Syndrome |
|
High palate, Wide nose, Short nose, Congenital hip dislocation, Ventriculomegaly, Narrow mouth, C... |
ORPHA:217385 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Micrognathia, Cleft palate, High palate, Death in infancy, Hypodon... |
ORPHA:989 |
| Distal Monosomy 12Q |
|
Pyloric stenosis, 2-3 toe syndactyly, Short middle phalanx of finger, Smooth philtrum, Duodenal a... |
ORPHA:96149 |
| Omodysplasia 1 |
|
Limited elbow flexion, Short nose, Increased fibular diameter, Limited elbow extension, Short hum... |
OMIM:258315 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Broad palm, Cleft palate, High palate, Wide mouth, Talipes equinovarus, Tapered finger, Short fin... |
OMIM:300209 |
| Atelosteogenesis Type I |
|
Micrognathia, Cleft palate, Talipes equinovarus, Laryngotracheal stenosis, Limb undergrowth, Rhiz... |
ORPHA:1190 |
| Boomerang Dysplasia |
|
Fibular aplasia, Underdeveloped nasal alae, Hypoplastic iliac body, Neonatal death, Wide nasal br... |
OMIM:112310 |
| Achondroplasia |
|
Genu varum, Depressed nasal bridge, Bowing of the legs, Rhizomelia, Flared metaphysis, Hydrocepha... |
OMIM:100800 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormal palate morphology, Micrognathia, Crowded maxillary incisors, Abnormality of femur morpho... |
ORPHA:2063 |
| Methimazole Embryofetopathy |
|
Hypospadias, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Choanal at... |
ORPHA:1923 |
| Fryns Syndrome |
|
Hypospadias, Cleft palate, Duodenal atresia, Anteverted nares, Micrognathia, High palate, Agangli... |
ORPHA:2059 |
| Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Short nose, Abnormal denta... |
OMIM:601559 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly |
OMIM:615937 |
| Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect, Intrauterine growth retardation |
ORPHA:1296 |
| Distal Trisomy 15Q |
|
Micrognathia, High palate, Long philtrum, Arachnodactyly, Prominent nasal bridge, Anal atresia, D... |
ORPHA:1707 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Adducted thumb, Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus ca... |
ORPHA:2182 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Hydrocephalus With Associated Malformations |
|
Short lower limbs, Micrognathia, Tibial bowing, Abnormal foot morphology, Lower limb undergrowth,... |
OMIM:236640 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Thin vermilion border, Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, N... |
ORPHA:2370 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Wide nasal bridge, Anal atresia |
OMIM:309620 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pyloric stenosis, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Low hanging colume... |
OMIM:619148 |
| Temple Syndrome |
|
Micrognathia, Cleft palate, High palate, Depressed nasal bridge, Short philtrum, Wide nose, Small... |
OMIM:616222 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect |
OMIM:613751 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Urethrovaginal fistula, Short ribs, Micrognathia, Depressed nasal bridge, Long philtrum, Renal cy... |
ORPHA:93271 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Death in infancy, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger s... |
OMIM:274000 |
| Chromosome 17P13.1 Deletion Syndrome |
|
High palate, Proximal placement of thumb, Knee flexion contracture, Prominent nasal bridge, Short... |
OMIM:613776 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Tapered finger |
OMIM:619033 |
| Acro-Renal-Ocular Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... |
ORPHA:959 |
| Femoral-Facial Syndrome |
|
Cleft palate, Truncus arteriosus, Smooth philtrum, Talipes equinovarus, Hypoplastic acetabulae, S... |
OMIM:134780 |
| Ritscher-Schinzel Syndrome 3 |
|
Micrognathia, Death in infancy, Epiphyseal stippling, Atrioventricular canal defect, Shortening o... |
OMIM:619135 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
| Arthrogryposis, Distal, Type 1C |
|
Shoulder flexion contracture, Cleft palate, Adducted thumb, Rocker bottom foot, Talipes equinovar... |
OMIM:619110 |
| Distal Monosomy 10Q |
|
Cleft palate, Smooth philtrum, Short metatarsal, Pes valgus, Short nose, Pes planus, Thin upper l... |
ORPHA:96148 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Abnormality of the knee, Abnormality of the elbow, Abnormality of the lower limb, Palmoplantar ke... |
ORPHA:158673 |
| Distal Trisomy 5Q |
|
Hypospadias, Dextrocardia, Micrognathia, Ventricular septal defect, Carious teeth, Long philtrum,... |
ORPHA:96097 |
| Hadziselimovic Syndrome |
|
Thick lower lip vermilion, Renal hypoplasia, Ventricular septal defect, High palate, U-Shaped upp... |
OMIM:612946 |
| Zimmermann-Laband Syndrome 3 |
|
Thick lower lip vermilion, High palate, Triphalangeal thumb, Broad nasal tip, Gingival overgrowth... |
OMIM:618658 |
| Mosaic Trisomy 14 |
|
Hypospadias, Micrognathia, High palate, Cleft palate, Ectopic anus, Lower limb asymmetry, Wide mo... |
ORPHA:1703 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Renal hypoplasia, Prominent nose, Polydactyly, Median cleft lip, Ventriculom... |
OMIM:617926 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Triphalangeal hallux, Tubulointerstitial nephritis, Broad toe, Short ribs,... |
OMIM:218330 |
| Cat-Eye Syndrome (Type I) |
|
Abnormal heart morphology, Micrognathia, Anal atresia |
DECIPHER:42 |
| Ring Chromosome 8 Syndrome |
|
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter, Short nose, Deviation of f... |
ORPHA:1450 |
| Vacterl/Vater Association |
|
Hypospadias, Tracheal stenosis, Hydronephrosis, Cleft palate, Anencephaly, Aplasia/Hypoplasia of ... |
ORPHA:887 |
| Acrocallosal Syndrome |
|
Hypospadias, Cleft palate, Smooth philtrum, Short nose, Finger syndactyly, Micropenis, Microretro... |
OMIM:200990 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Brachydactyly, Anal atresia |
ORPHA:1436 |
| Pallister-Hall Syndrome |
|
Cleft palate, Neonatal death, Microglossia, Short nose, Distal shortening of limbs, Micropenis, S... |
OMIM:146510 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Tapered finger, Long fingers, Short nose, Short toe, Proximal placemen... |
OMIM:613458 |
| Renpenning Syndrome |
|
Hypospadias, High, narrow palate, Prominent nose, Cleft palate, Short philtrum, Anal atresia, Abn... |
ORPHA:3242 |
| Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
| Non-Syndromic Posterior Hypospadias |
|
Ventral shortening of foreskin, Cleft palate, Esophageal atresia, Anal atresia, Urethral divertic... |
ORPHA:95706 |
| Thanatophoric Dysplasia Type 2 |
|
Holoprosencephaly, Abnormality of the metaphysis, Patent ductus arteriosus, Polyhydramnios, Incre... |
ORPHA:93274 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly, Talipes equinovarus, Microphthalmia, Microcephaly |
OMIM:612530 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Micrognathia, Cleft palate, Hydronephrosis, Duodenal atresia, Wide mo... |
OMIM:243605 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Abnormal palate morphology, Micrognathia, Radial club hand, Broad thumb, Short metatarsal, Wide n... |
ORPHA:1278 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Micrognathia, High palate, Hypodontia, Tapered finger, Short nose, Thick verm... |
OMIM:617061 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Perineal fistula, Rectovaginal fistula, Hypoplasia of the radius, Anal atresia, Rectal atresia, H... |
ORPHA:3016 |
| Hartsfield Syndrome |
|
Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Split hand, Aplasia/Hy... |
ORPHA:2117 |
| Acromicric Dysplasia |
|
Thick lower lip vermilion, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtru... |
OMIM:102370 |
| Postaxial Acrofacial Dysostosis |
|
Micrognathia, Cleft palate, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft lip, C... |
ORPHA:246 |
| Kindler Epidermolysis Bullosa |
|
Carious teeth, Premature loss of primary teeth, Dysphagia, Inflammation of the large intestine, S... |
ORPHA:2908 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis |
OMIM:107900 |
| Opitz-Kaveggia Syndrome |
|
Pyloric stenosis, Hypospadias, Cleft palate, Joint contracture of the hand, Syndactyly, Hydroceph... |
OMIM:305450 |
| Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, Short humerus, Ectopic kidney, Elbow flexion contracture, Micrognathia, High pa... |
OMIM:117650 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Cleft palate, Ectopic anus, Anal atresia, Spina bifida, Abnormal shoul... |
ORPHA:2345 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Nephritis, Ulnar bowing, Short forearm, Madelung deformity, Short tibia |
OMIM:127350 |
| Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Renal hypoplasia, Ventricular septal defect, Hypodontia, Ectopic anus, Hypoplas... |
ORPHA:3138 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Hydronephrosis, Cleft palate, High palate, Aganglionic megacolon, Ectopic anus... |
ORPHA:2473 |
| Triploidy |
|
Meningocele, Holoprosencephaly, Polyhydramnios, Finger syndactyly, Aplasia/Hypoplasia of the corp... |
ORPHA:3376 |
| Cocaine Embryofetopathy |
|
Intestinal atresia, Short distal phalanx of finger |
ORPHA:1911 |
| Trisomy 1Q |
|
Toe syndactyly, Hydronephrosis, Cleft palate, Depressed nasal bridge, Ventricular septal defect, ... |
ORPHA:261344 |
| Orofaciodigital Syndrome Type 2 |
|
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... |
ORPHA:2751 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Ectopic anus, Short philtrum, Aplasia/Hypoplasia of the ... |
ORPHA:94066 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Broad thumb, Wide nasal bridge, Finger syndactyly, Hydrocep... |
ORPHA:380 |
| Thanatophoric Dysplasia Type 1 |
|
Short greater sciatic notch, Depressed nasal bridge, Abnormal sacroiliac joint morphology, Bowing... |
ORPHA:1860 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Carious teeth, Ventricular septal defect, High palate, Narrow nose, Long nose, Short... |
OMIM:617602 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Cleft palate, Hamartoma of tongue, Polysyndactyly of hallux, Microglos... |
OMIM:263520 |
| Upper Limb Mesomelic Dysplasia |
|
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing |
ORPHA:2497 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy, Carious teeth, Dysphagia, Mitten deformity, Ankyloglossia, Esophageal str... |
ORPHA:89842 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Death in infancy, Early ossification of capital femoral epiphyses, Hypoplast... |
OMIM:208500 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
| Fg Syndrome Type 1 |
|
Pyloric stenosis, Hypospadias, Single transverse palmar crease, Broad toe, Pes planus, Finger syn... |
ORPHA:93932 |
| Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Cleft palate, Triphalangeal thumb, High palate, Abnormality of the elbow, Abnormali... |
ORPHA:3098 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... |
OMIM:246570 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Cleft palate, Short nose, Thin upper lip vermilion, Anteverted nares |
ORPHA:2015 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Lower limb undergrowth, Convex nasal ridge, Oral cleft, Forearm undergrowth |
OMIM:218650 |
| 3M Syndrome |
|
Hypospadias, Rocker bottom foot, Abnormality of the elbow, Long philtrum, Abnormal dental enamel ... |
ORPHA:2616 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Abnormal palate morphology, Micrognathia, Death in infancy, Talipes, Short nose, Ventriculomegaly... |
ORPHA:1495 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Pyloric stenosis, Broad palm, Underdeveloped nasal alae, Convex nasal ridge, Smooth philtrum, Hyp... |
OMIM:618419 |
| Steinfeld Syndrome |
|
Aplasia of the nose, Phocomelia, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Ho... |
OMIM:184705 |
| Microgastria-Limb Reduction Defects Association |
|
Cystic renal dysplasia, Microgastria, Horseshoe kidney, Aganglionic megacolon, Hand oligodactyly,... |
OMIM:156810 |
| Pelvis-Shoulder Dysplasia |
|
Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia, Fifth finger distal... |
ORPHA:2839 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Hip dysplasia, Anal atresia |
ORPHA:195 |
| Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Abnormal intestine morphology, Abnormality of the ureter, Abnormality of the knee, ... |
ORPHA:1834 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
High palate, Depressed nasal bridge, Wide nasal bridge, Sandal gap, Enamel hypoplasia, Bulbous no... |
OMIM:600991 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Tapered finger, Metaphyseal irregularity, Dislocated radial head, Pes planus, H... |
OMIM:618395 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Dysphagia, Mitten deformity, Spontaneous esophageal perforation, Enamel hypoplasia, Esophageal st... |
OMIM:226600 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Prominent nose, Metaphyseal dysplasia, Depressed nasal bridge, Broad nasal tip, Epiphyseal dyspla... |
OMIM:617425 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Bilateral cleft lip and palate, Carious teeth, Anal atresia, Conical tooth, Finger syndactyly |
ORPHA:1997 |
| Otoonychoperoneal Syndrome |
|
Hypospadias, Ankle flexion contracture, Knee flexion contracture, Aplasia/Hypoplasia of the fibula |
OMIM:259780 |
| Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Nephropathy, Anal atresia |
ORPHA:2408 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, High palate, Short 2nd toe, Depressed nasal... |
OMIM:612582 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect |
OMIM:606217 |
| Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Short 5th toe, Short clavicles, Ventricular septal defect, Hypodontia, Hypoplas... |
OMIM:181450 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Depressed nasal bridge, Talipes equinovarus, Mirror image foot polydactyly, Stillbi... |
OMIM:119800 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Depressed nasal ridge, Abnormality of the ulna, Microdontia, Aplasia/Hypoplasia of the radius, Ab... |
ORPHA:1837 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Short nose, Syndactyly, Thin upper lip vermili... |
OMIM:614701 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Hallux valgus, Short metatarsal, Cubitus valgus, Short nose, Absent frontal sinuses, Anteverted n... |
OMIM:211910 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Abnormality of the ureter, Talipes equinovarus, Congenital posterior u... |
ORPHA:2970 |
| Juberg-Hayward Syndrome |
|
Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Cleft upper li... |
OMIM:216100 |
| Maxillonasal Dysplasia |
|
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Short colume... |
ORPHA:1248 |
| Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Renal hypoplasia, 2-3 toe syndactyly, Ventricular septal defect, Complete atriovent... |
OMIM:264480 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
