| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Esophageal atresia, Transposition of the great a... |
OMIM:314390 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Death in... |
OMIM:200700 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Fragmented ... |
ORPHA:166016 |
| Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasi... |
OMIM:227270 |
| Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, V... |
ORPHA:59315 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Broad hallux, Complete atrioventricular canal ... |
OMIM:217095 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Coxa valga, Short 4th metacarpal, Abnormal carpal morphology, Increased carrying ang... |
OMIM:127300 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Complete at... |
OMIM:217085 |
| Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Syndactyly, Abnormal hear... |
ORPHA:294975 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Death in infancy, Hypoplasia of the radius, Stage 5 chronic kidney disease, Anal at... |
OMIM:613390 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
| Omodysplasia 2 |
|
Wide nasal bridge, Micrognathia, Dislocated radial head, Hypoplastic distal humeri, Limited elbow... |
OMIM:164745 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Bifid tongue, Cleft palate, Talipes equinovarus, Short ribs, Enlarged kidney, Absent tibia, Polyc... |
OMIM:613091 |
| Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Wide nasal bridge, Short philtrum, Diastema, Accessory oral fr... |
OMIM:617927 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality of femur morphol... |
ORPHA:2310 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
| Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Small hand, Esophageal atresia, Wide mouth, Bifid uvula, Downturn... |
OMIM:618779 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Broad nasal tip, Bifid nasal... |
OMIM:300484 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, High palate, Prominent nose, Wide nasal bridg... |
OMIM:201170 |
| Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Wide nasal bridge, Elbow dislocation, Madelung deformity... |
ORPHA:240 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Narrow mouth, Aplasia/Hypoplasia ... |
OMIM:612447 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Long philtrum, Ventriculomegaly, Micrognathia, Hip dy... |
ORPHA:1988 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Short metatarsal, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular... |
ORPHA:1856 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal stenosis, Esophageal atresia, Missing ribs, Clinodactyly of the 5th finger, Short nose, T... |
OMIM:619859 |
| Fanconi Anemia, Complementation Group B |
|
Absent thumb, Ventriculomegaly, Ventricular septal defect, Bilateral radial aplasia, Esophageal a... |
OMIM:300514 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, High palate, Small hand, Clinodactyly, Short nose, Cubitus valgus, Short foot, ... |
OMIM:300577 |
| Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Wide nasal bridge, Short long bone, Ventricu... |
ORPHA:2256 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Premature l... |
ORPHA:85188 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bifid tongue, Cleft palate, Narrow greater sciatic notch, Prominent nose, Short ribs... |
OMIM:616300 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Multicystic kidney ... |
ORPHA:2538 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad thumb, Smooth ph... |
OMIM:614526 |
| Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... |
ORPHA:2019 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Short femur, Hypop... |
OMIM:619598 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Genu valgum, Rhizomelia, Coxa vara, Short metacarpal, Depressed nasal ridge, Short nos... |
ORPHA:2831 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Pat... |
OMIM:602613 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... |
OMIM:614326 |
| Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Depressed nasal ridge, Short long bone, Epiphyseal stippling, ... |
OMIM:118651 |
| Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, High palate, Short femoral neck, Abnormal carpal morphology, Me... |
ORPHA:2632 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
| Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru... |
ORPHA:2863 |
| Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, Micrognathia, Short middle phalanx of the 2nd finger, Multipl... |
ORPHA:391641 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Elbow flexion contracture, Dislocated radial head, Narrow nose, Forearm undergrowth, Pes planus, ... |
OMIM:249600 |
| Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Narrow greater sciatic notch, Short palm,... |
OMIM:228520 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu... |
ORPHA:2756 |
| Apert Syndrome |
|
Ventriculomegaly, Ectopic anus, Humeroradial synostosis, Delayed eruption of teeth, Bifid uvula, ... |
OMIM:101200 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux |
OMIM:235750 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal atresia, Microgna... |
OMIM:610536 |
| Xk Aprosencephaly Syndrome |
|
Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology of the radius, Anal a... |
ORPHA:3469 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... |
OMIM:619142 |
| Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dislocation, Limb u... |
OMIM:108720 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Patellar dislocation, Short 1st metacarpal, Long philtrum, Micrognathia, Hypoplasia o... |
ORPHA:93328 |
| Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Choanal at... |
OMIM:607323 |
| Feingold Syndrome |
|
Hallux valgus, Esophageal atresia, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, ... |
ORPHA:1305 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Micrognathia, Cleft palate, Narrow greater sciatic notch, Short ribs, Esophageal div... |
OMIM:617925 |
| Seckel Syndrome 1 |
|
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:210600 |
| 3C Syndrome |
|
Atrioventricular canal defect, Ventriculomegaly, Ectopic anus, Wide nasal bridge, Micrognathia, C... |
ORPHA:7 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Wide nasal bridge, Toe syndactyly, Micrognathia, Flared iliac wing, Apla... |
OMIM:609945 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Aqueductal stenosis, Hydrocephalus, Anal atresia, Abnormal heart ... |
OMIM:276950 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate, Short humerus |
OMIM:191000 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Ventriculomegaly, Short ribs, Micrognathia, Radial bowing, Missing ribs, Ulna... |
OMIM:617866 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Anal atresia, Abnormality of the lower limb |
OMIM:246000 |
| Acrofacial Dysostosis, Rodríguez Type |
|
Finger syndactyly, Aqueductal stenosis, Arrhinencephaly, Radioulnar synostosis, Microretrognathia... |
ORPHA:1788 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Patellar dislocation, Coxa vara, Patellar hypoplasia, Patellar aplasia, Micrognathia... |
OMIM:147891 |
| Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Dislocated radial head, Short h... |
OMIM:186500 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Coxa vara, Short metacarpal, Brachydactyly, Short metatarsal, Deformed humeral heads,... |
OMIM:601438 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Convex nasal ridge, Narrow palate, Finger syndactyly, Ectopic an... |
ORPHA:87 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Brachydacty... |
ORPHA:52056 |
| Even-Plus Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, High palate, Depressed nasal ridge, Hypodontia, Anal... |
OMIM:616854 |
| 15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Intestinal atresia, Narrow mouth, Proximal placement of thumb, Myelomeningocele,... |
ORPHA:94065 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Bilateral talipes equinovarus, Esophageal atresia, Wide nasal b... |
OMIM:614083 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... |
OMIM:220210 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Disproportionate shortening o... |
OMIM:619217 |
| Phocomelia, Schinzel Type |
|
Meningocele, Humeroradial synostosis, Micrognathia, Cleft palate, Ectrodactyly, Aplasia/Hypoplasi... |
ORPHA:2879 |
| Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Hypoplasia of penis, Abnormality of the wrist, Split hand, Micromelia, ... |
ORPHA:2491 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Micrognathia, Cleft lowe... |
OMIM:268305 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Abnormal cardiac... |
ORPHA:3320 |
| Acrodysostosis |
|
Short toe, Depressed nasal ridge, Short metacarpal, Delayed eruption of teeth, Hypoplasia of the ... |
ORPHA:950 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... |
OMIM:171480 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Genu valgum, Hypoplasia of penis, Anal atresia, Abnormal palate morphology, Hypospadias, Tetralog... |
ORPHA:1381 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short philtrum, Short ... |
ORPHA:217340 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Abnormal nostril morphology, Long philtrum, De... |
ORPHA:2878 |
| Pfeiffer Syndrome Type 2 |
|
Hallux varus, High palate, Finger syndactyly, Small hand, Aqueductal stenosis, Toe syndactyly, Hy... |
ORPHA:93259 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
| W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... |
ORPHA:2804 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Micro... |
ORPHA:958 |
| Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia, Depressed... |
OMIM:277150 |
| Maternal Phenylketonuria |
|
Bifid distal phalanx of the thumb, Double outlet right ventricle, High palate, Long philtrum, Wid... |
ORPHA:2209 |
| Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias, Anal atresia, Absent radius |
OMIM:312190 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft lip, Ventricular sept... |
OMIM:601357 |
| Cenani-Lenz Syndrome |
|
Convex nasal ridge, Crossed fused renal ectopia, Foot oligodactyly, Finger syndactyly, Toe syndac... |
ORPHA:3258 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:615779 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis, Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathi... |
OMIM:602418 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Encephalocele, Abnormal ca... |
ORPHA:1590 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Wide nasal bridge, Micrognathia, Bifid uvula, Camptodactyly, Spina bi... |
OMIM:300373 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cardiomegaly, Fractured radius, Ventriculomegaly, Wide nasal bridge, Short ribs, Ventricular sept... |
OMIM:616897 |
| Mietens Syndrome |
|
Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Wide nasal... |
ORPHA:2557 |
| Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Holoprosencephaly, Postaxial ... |
ORPHA:3380 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Abnormal hand bone ossification, Lim... |
ORPHA:1505 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ulna, Everted lower lip v... |
OMIM:615162 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Holoprosencephaly, Hydrocephalus, Polyhydramnios |
OMIM:617967 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Hypoplasia of pen... |
ORPHA:77298 |
| Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radius, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ulna, Everted lower lip v... |
ORPHA:357175 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Hydronephrosis, Ventriculomegaly, Short long bone, Micrognathia, Hypoplastic in... |
ORPHA:140 |
| Pfeiffer Syndrome Type 3 |
|
Hallux varus, Vesicoureteral reflux, Hydronephrosis, High palate, Finger syndactyly, Small hand, ... |
ORPHA:93260 |
| Juberg-Hayward Syndrome |
|
Wide nose, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of th... |
ORPHA:2319 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Wide nose, Patent foramen ovale, Rhizomelia, Short ribs, Hypoplasia of the radius, S... |
OMIM:607143 |
| Distal Monosomy 10P |
|
Non-midline cleft lip, Convex nasal ridge, Abnormality of the elbow, Ectopic anus, Wide nasal bri... |
ORPHA:1580 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... |
ORPHA:90652 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Abnormality of the wrist, Fibular duplication, Prominent nose, Preaxial foot poly... |
ORPHA:2378 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Mic... |
OMIM:618142 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Micrognathia, Foot po... |
OMIM:258860 |
| Fryns Syndrome |
|
Wide nasal bridge, Camptodactyly, Cleft palate, Rocker bottom foot, Ventricular septal defect, Es... |
OMIM:229850 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Wide nose, Absent thumb, Convex nasal ridge, Aqueductal stenosis, Humeroradial synos... |
OMIM:251230 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, High palate, Toe syndactyly, Camptodactyly, Hand polydactyly, Median cleft lip, Broa... |
OMIM:258865 |
| Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Bicuspid aortic valve, Radioul... |
OMIM:614900 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Ventricul... |
OMIM:142900 |
| Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp... |
OMIM:212780 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Rhizomelia, Wide nasal bridge, Micrognathia, Epiphyseal stippling, Submucous cleft h... |
OMIM:222765 |
| Codas Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Ventriculomegaly, Delayed eruption of tee... |
OMIM:600373 |
| Eiken Syndrome |
|
Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti... |
OMIM:600002 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Abnormal cardi... |
ORPHA:1352 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short femoral neck, Swan neck-like defo... |
OMIM:616716 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... |
OMIM:274000 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Absent thumb, Primum atrial septal defect, Esophageal atresia |
OMIM:615272 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Vesicoureteral reflux, Ventriculomegaly, Wide nasal bridge, Aganglionic megacolon, Shortening of ... |
OMIM:614749 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Esophageal food impaction, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, E... |
ORPHA:411696 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete... |
OMIM:613854 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
| 8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
| Feingold Syndrome 1 |
|
2-3 toe syndactyly, Short toe, High palate, Jejunal atresia, Gastrointestinal atresia, Esophageal... |
OMIM:164280 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Ventriculomegaly, Camptodactyly, Overlapping toe, Smooth philtrum, Thi... |
ORPHA:363444 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Ulnar deviation of finger, Hypoplasia of the ulna, Metatarsus adductus,... |
ORPHA:2249 |
| Vater/Vacterl Association |
|
Patent urachus, Choanal atresia, Vesicoureteral reflux, Ventricular septal defect, Esophageal atr... |
OMIM:192350 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Gastroesophageal reflux, Atrioventricular canal defect, Tapered finger, High palate, Long philtru... |
OMIM:613792 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly, Tapered finger, Limited elbow extension |
OMIM:300706 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
| Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Esophageal atresia, Absence of the sacrum, Micrognathia, Hypoplasia of the r... |
ORPHA:3412 |
| Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis,... |
ORPHA:93320 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Kinsship Syndrome |
|
Polydactyly, Coxa valga, Ventriculomegaly, Micrognathia, Hip dislocation, Dislocated radial head,... |
OMIM:619297 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
High palate, Rhizomelia, Micrognathia, Hip dislocation, Short humerus, Hypoplasia of the ulna, Di... |
OMIM:602471 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short foot, Short metacarpa... |
OMIM:614078 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De... |
OMIM:613751 |
| Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Clinodactyly, Anal atresia, Cutan... |
OMIM:119580 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
| Saul-Wilson Syndrome |
|
Convex nasal ridge, Coxa valga, Madelung deformity, Short metacarpal, Enlarged epiphyses, Ventric... |
OMIM:618150 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypopl... |
ORPHA:2476 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, Esophageal atresia, Malabsorption, Agangli... |
OMIM:250250 |
| Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Ventriculomegaly, Wide nasal bridge, Micrognathia, Median cleft lip, H... |
OMIM:612651 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... |
OMIM:277170 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Elb... |
ORPHA:56304 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Occipital encepha... |
OMIM:613885 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Kyphomelic Dysplasia |
|
Cleft upper lip, Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowin... |
OMIM:211350 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Depressed nasal bridge... |
OMIM:165590 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna |
ORPHA:1122 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Femoral bowing, Short femur, Brachydactyly, ... |
ORPHA:440354 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Truncus arteriosus, Ventricular septal defect, Atrial septal de... |
ORPHA:401935 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
| Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Anal atresia |
OMIM:617244 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short mid... |
ORPHA:391646 |
| Cocaine Embryofetopathy |
|
Short distal phalanx of finger, Encephalocele, Intestinal atresia |
ORPHA:1911 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Esophageal atresia, Bifid uvula, ... |
OMIM:301030 |
| Baller-Gerold Syndrome |
|
Abnormal carpal morphology, Abnormal cardiac septum morphology, Micrognathia, Abnormality of the ... |
ORPHA:1225 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Tapered finger, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Hip dislocation, Pes cavus, Smo... |
OMIM:300968 |
| Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Esophageal atresia, Submucous cleft hard palate, Unilateral renal agenesis, Tracheoeso... |
OMIM:619227 |
| Trisomy 1Q |
|
Camptodactyly of finger, Wide nose, Preaxial hand polydactyly, Multicystic kidney dysplasia, Cong... |
ORPHA:261344 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Irregular dentition, Spinal dysraphism, Hallux valgus, Micrognathia, Hip... |
OMIM:114290 |
| Fryns Syndrome |
|
Non-midline cleft lip, Ventriculomegaly, Ectopic anus, Wide nasal bridge, Abnormal cardiac septum... |
ORPHA:2059 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Toe syndactyly, Micrognathia, Death in infancy, Hydrocephalus, Hip dislocation, Posta... |
OMIM:241800 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Ventricular septal defect, Toe syndactyly, Micrognathi... |
ORPHA:261120 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... |
OMIM:208530 |
| Postaxial Acrofacial Dysostosis |
|
Midgut malrotation, Conical tooth, Cleft upper lip, Abnormal foot morphology, Micrognathia, Pylor... |
OMIM:263750 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Thick lower lip vermilion, Long ... |
ORPHA:969 |
| Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t... |
OMIM:227646 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Anal atresia, Wide nasal bridge |
OMIM:309620 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Abnormality of the upper limb, Narrow palate, Crowded maxillary incisors... |
ORPHA:2063 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, ... |
OMIM:619148 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Hallux valgus, Finger syndactyly, Wide nasal bridge, To... |
ORPHA:2008 |
| Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Polyhydramnios, Encephalocele, Hydrocephalus, Atrial septal defect, Hol... |
ORPHA:93274 |
| Atelosteogenesis Type I |
|
Rhizomelia, Short long bone, Micrognathia, Laryngotracheal stenosis, Short femur, Brachydactyly, ... |
ORPHA:1190 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth, Orofacial cleft |
OMIM:218650 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Finger syndactyly, Wide nasal bri... |
ORPHA:989 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Hypospadias, Choanal at... |
ORPHA:1923 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Micromelia, Cl... |
ORPHA:63862 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Abnormal palate morphology, Abnormality of the ureter, Anteverted nares, Deviation of... |
ORPHA:1450 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Anal atresia, Downturned corne... |
ORPHA:1707 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
| Boomerang Dysplasia |
|
Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic iliac body, Hypoplastic nasal septum, A... |
OMIM:112310 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Preaxial polydactyly, Hydrocephalus |
ORPHA:141333 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Ventriculomegaly, Clinodactyly of the 5th finger, Hypoplasia of penis, Sh... |
ORPHA:217385 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Esophageal stricture, Achalasia, Radial club hand, Microphallus, Talipes... |
OMIM:617053 |
| Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Anal atresia, Brachydactyly |
ORPHA:1436 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly o... |
ORPHA:2370 |
| Cat-Eye Syndrome (Type I) |
|
Micrognathia, Abnormal heart morphology, Anal atresia |
DECIPHER:42 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Wide nasal br... |
OMIM:258315 |
| Vacterl/Vater Association |
|
Anorectal anomaly, Non-midline cleft lip, Preaxial hand polydactyly, Multicystic kidney dysplasia... |
ORPHA:887 |
| Renpenning Syndrome |
|
Prominent nose, Clinodactyly of the 5th finger, Anal atresia, Short philtrum, Abnormal thumb morp... |
ORPHA:3242 |
| Van Den Ende-Gupta Syndrome |
|
Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... |
OMIM:600920 |
| Distal Monosomy 12Q |
|
2-3 toe syndactyly, Micrognathia, Elbow flexion contracture, Median cleft lip, Overlapping toe, B... |
ORPHA:96149 |
| Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Wide nasal bridge, Abnormal cardiac septum morpholog... |
OMIM:200990 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Distal shortening of limbs, Holoprosenceph... |
OMIM:146510 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Knee flexion contracture, Ankle clonus, High palate, Short foot, Long hallux, Elbow flexion contr... |
OMIM:613776 |
| Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Wide nasal bridge, Micrognathia, Hydrocephalus, Intestinal malrotati... |
OMIM:243605 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters |
OMIM:619817 |
| Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Short first metatarsal, Short 1st metacarpal, Death in infancy, Mi... |
OMIM:619135 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Thick lower lip vermilion, Anal ... |
OMIM:612946 |
| Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Hyperphalangy of the 2nd finger, Ulnar dev... |
OMIM:616145 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Bifid tongue, Ventriculomegaly, Ectopic anus, Micrognathia, Urethrovaginal fistula, Abnormal pelv... |
ORPHA:93271 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Micrognathia... |
OMIM:134780 |
| Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Finger syndactyly, Hypoplasia of the radius, Micr... |
ORPHA:246 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly, Tapered finger |
OMIM:619033 |
| Distal Monosomy 10Q |
|
Tapered finger, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Hip dislocation, S... |
ORPHA:96148 |
| Cousin Syndrome |
|
2-3 toe syndactyly, Wrist flexion contracture, Humeroradial synostosis, Micrognathia, Camptodacty... |
OMIM:260660 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Mitten deformity, Enamel hypoplasia, Esophageal stricture, Urethral stricture, Oral mucosal blist... |
ORPHA:79409 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Perineal fistula, Hydrocephalus, Anal atresia, Oligodactyly, Ectrodacty... |
ORPHA:3016 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ankle clonus, High palate, Long philtrum, Deep philtrum, Restrictive cardiomyopathy, Hydroureter,... |
OMIM:615398 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Ectopic anus, Wide mouth, Wide nasal bridge, Micrognathia, ... |
ORPHA:1703 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Cleft palate, Abnormal shoul... |
ORPHA:2345 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalocele, Finger syndactyly... |
ORPHA:1908 |
| Distal Trisomy 5Q |
|
Absent thumb, Long philtrum, Ventricular septal defect, Hypoplasia of the radius, Micrognathia, H... |
ORPHA:96097 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corners of mouth, Aplasia/Hyp... |
ORPHA:94066 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent foramen ovale, Cleft upper lip, High palate, Ventricular septal defect, Hip dysplasia, Abn... |
OMIM:612582 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Rhizomelia,... |
ORPHA:3098 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Ventriculomegaly, Hydrocephalus, Atrial septal defect, Short femur, Femoral bow... |
ORPHA:1860 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Prominent nose, Ventriculomegaly, Short middle phalanx of the 2nd finger, Clinodacty... |
OMIM:617926 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Coxa valga, Prominent nose, Death in infancy, Delayed ossification of carp... |
OMIM:617425 |
| Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia, Split hand |
ORPHA:2117 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Ectopic anus, Abnormal finger morphology, Apl... |
ORPHA:3138 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Vesicoureteral reflux, Radial cl... |
ORPHA:959 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Patellar hypoplasia, Ventriculomegaly, Wide nasal brid... |
OMIM:603671 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Wide nasal bridge, Micrognathia, Dislocated radial head, Radial deviation of finger... |
OMIM:268310 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Abnormality of the knee, Esophageal stricture, Abnormality of the elbow, Palmoplantar hyperkerato... |
ORPHA:158673 |
| Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Urethral diverticulum, Anal atresia, Ventral shortening of foreskin, Micropen... |
ORPHA:95706 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Finger syndactyly, Ectopic a... |
ORPHA:2473 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Anal atresia, Hydronephrosis |
ORPHA:195 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Syndactyly, Holoprosencephaly, Narrow palm, Abnormal heart morphology |
ORPHA:1445 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Finger syndactyly, Anal atresia, Carious teeth, Bilateral cleft lip and palate |
ORPHA:1997 |
| Cerebrocostomandibular Syndrome |
|
Cleft soft palate, Micrognathia, Elbow flexion contracture, Cleft palate, Glossoptosis, Ventricul... |
OMIM:117650 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Preaxial foot po... |
ORPHA:380 |
| Achondroplasia |
|
Genu varum, Choanal stenosis, Rhizomelia, Short femoral neck, Short ribs, Death in infancy, Radia... |
OMIM:100800 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
| Otoonychoperoneal Syndrome |
|
Knee flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Hypospadias, Ankle f... |
OMIM:259780 |
| Cat Eye Syndrome |
|
Micrognathia, Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular septal defect, Atr... |
OMIM:115470 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Encephalocele, Ventricular septal defect, ... |
OMIM:264480 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Esophageal stricture, Delayed eruption of teeth, Hypodontia, Dysphagia, Palmop... |
OMIM:616029 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
| Emanuel Syndrome |
|
Ventriculomegaly, Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Ventricula... |
OMIM:609029 |
| 3M Syndrome |
|
Hypoplastic pubic bone, Long philtrum, Abnormality of the elbow, Delayed eruption of teeth, Slend... |
ORPHA:2616 |
| Sweeney-Cox Syndrome |
|
Wide nasal bridge, Micrognathia, 2-4 finger syndactyly, Bilateral talipes equinovarus, Choanal at... |
OMIM:617746 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, A... |
ORPHA:1278 |
| Opitz-Kaveggia Syndrome |
|
Micrognathia, Camptodactyly, Broad hallux, Radial deviation of finger, Cleft palate, Choanal atre... |
OMIM:305450 |
| Fg Syndrome Type 1 |
|
Ventriculomegaly, Abnormal large intestine morphology, Micrognathia, Choanal atresia, Prominent n... |
ORPHA:93932 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Ventricular septal... |
ORPHA:2970 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Depressed nasal ridge, Microdontia, Abnormality of dental morph... |
ORPHA:1837 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Postaxial polysyndactyly of ... |
OMIM:263520 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Cleft palat... |
OMIM:304120 |
| Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Microphthalmia, Agenesis of corp... |
OMIM:164180 |
| Cranioectodermal Dysplasia 1 |
|
Wide nasal bridge, Stage 1 chronic kidney disease, Microdontia, Everted lower lip vermilion, Radi... |
OMIM:218330 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Ventriculomegaly, Death in infancy, Micrognathi... |
ORPHA:1495 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis, Madelung deformity |
OMIM:127350 |
| 1Q21.1 Microduplication Syndrome |
|
Gastroesophageal reflux, Hip dysplasia, Hydrocephalus, Hip dislocation, Hypospadias, Tetralogy of... |
ORPHA:250994 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Gingivitis, Esophageal stricture, Dysphagia, Abnormality of the anus, Sh... |
ORPHA:2908 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Micrognathia, Preaxial foot polydactyly, Hydrocephalus, Anencephaly, Postaxial ... |
OMIM:614120 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate |
ORPHA:2015 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... |
ORPHA:2839 |
| Shox-Related Short Stature |
|
Genu valgum, High palate, Micrognathia, Lower limb undergrowth, Cubitus valgus, Ulnar radial head... |
ORPHA:314795 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Atrioventricular canal defect, Bifid tongue, Wide nasal brid... |
ORPHA:2751 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Nephropathy, Anal atresia |
ORPHA:2408 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, 2-3 toe syndactyly, Dilated fourth ventricle, Ventriculomegaly, Lateral ventric... |
OMIM:613443 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Micrognathia, Elbow flexion contracture, Hip dislocation, Short fem... |
OMIM:210710 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Bifid uvula, Miss... |
OMIM:184705 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Ventriculomegaly, Wide nasal bridge, Lobar holoprosencephaly, Smooth philtrum... |
OMIM:614701 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
| Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Ventricular septal defec... |
OMIM:181450 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Duplication of phalan... |
OMIM:263630 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Ventriculomegaly, Wide nasal bridge, Joint contracture of the hand, Pr... |
OMIM:175700 |
| Orofaciodigital Syndrome Xi |
|
Gastroesophageal reflux, Wide nasal bridge, Hypoplasia of the odontoid process, Cleft palate, Bul... |
OMIM:612913 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Long philtrum, Wide nasal bridge, Short long bone, Short lingual frenulum, Microdontia, Widely sp... |
OMIM:619479 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventriculomegaly, Micrognathia, Cleft palate, Duodenal atresia, Pa... |
OMIM:265380 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Ventricular septal defect, Camptodactyly, Anal atresia, Clinodactyly of the 5th fing... |
OMIM:617602 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Depressed nasal ridge, Microdontia, Short nose, Short columella, Dep... |
ORPHA:1248 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra... |
OMIM:601559 |
| Triploidy |
|
Meningocele, Polyhydramnios, Aplasia/Hypoplasia affecting the eye, Finger syndactyly, Abnormal ca... |
ORPHA:3376 |
| Emanuel Syndrome |
|
Ventriculomegaly, Ectopic anus, Delayed eruption of teeth, Truncus arteriosus, Micrognathia, Bifi... |
ORPHA:96170 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Nephrotic syndrome, Partial duplication of the distal phalanx ... |
OMIM:256200 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Hydranencephaly, Holoprosencephaly, Adducted thumb |
ORPHA:2570 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... |
OMIM:309350 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Oligohydramnios, Syndactyly, Holoprosencephaly, Mitral regurgitation,... |
OMIM:619879 |
| Trisomy 12P |
|
Wide nasal bridge, Micrognathia, Clinodactyly of the 5th finger, Anal atresia, Short nose, Everte... |
ORPHA:1699 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Gastroesophageal reflux, Abnormality of the knee, Genu valgum, Metaphyseal dysplasia, Cleft soft ... |
ORPHA:93316 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Adducted thumb, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:2182 |
| Acrorenal-Mandibular Syndrome |
|
High palate, Narrow palate, Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the rad... |
OMIM:200980 |
| Baller-Gerold Syndrome |
|
Absent thumb, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Aphalangy of the hands, Spi... |
OMIM:218600 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Tapered finger, Patellar dislocation, Short femoral neck, Hip dislocati... |
OMIM:618395 |
| Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... |
ORPHA:2307 |
| Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... |
OMIM:252100 |
| Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Cleft palate, ... |
ORPHA:2712 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Micrognathia, Missing ribs, ... |
ORPHA:3301 |
| Fanconi Anemia |
|
Ventriculomegaly, Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Hip dislocati... |
ORPHA:84 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
| Anus, Imperforate |
|
Hypospadias, Anal atresia, Ectopic anus |
OMIM:301800 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Mitten deformity, Gastroesophageal reflux, Esophageal stricture, Ankyloglossia, Esophageal stenos... |
ORPHA:89842 |
| Hydrolethalus |
|
Polyhydramnios, Anophthalmia, Anencephaly, Arrhinencephaly, Hydrocephalus, Microphthalmia, Postax... |
ORPHA:2189 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Depressed nasal bridge, Mirror imag... |
OMIM:119800 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Short 4th metacarpal, Mitral valve prolapse, Hydrocephalus, Azoospermia, Cubitus valgus, High, na... |
ORPHA:2183 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
ORPHA:2669 |
| Hyperparathyroidism, Transient Neonatal |
|
Gastroesophageal reflux, Short nasal bridge, Ventriculomegaly, Wide nasal bridge, Short ribs, Sho... |
OMIM:618188 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Preaxial hand polydactyly, Broad nasal tip, Large hands, Orofacial cleft |
ORPHA:85287 |
| Dyskeratosis Congenita |
|
Anorectal anomaly, Periodontitis, Malabsorption, Hypodontia, Coarse metaphyseal trabecularization... |
ORPHA:1775 |
| Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Bifid tongue, Cleft soft palate, Bifid uvula, Abnormal oral frenulum morph... |
ORPHA:2919 |
| Juberg-Hayward Syndrome |
|
Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal carpal... |
OMIM:216100 |
| Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Short finger, Ulnar deviatio... |
OMIM:222600 |
| Slc35A2-Cdg |
|
Short tibia, Gastroesophageal reflux, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnor... |
ORPHA:356961 |
| Sirenomelia |
|
Absence of the sacrum, Spina bifida, Anal atresia, Tracheoesophageal fistula, Sirenomelia, Aplasi... |
ORPHA:3169 |
| Hydrolethalus Syndrome 1 |
|
Micrognathia, Median cleft lip, Duplication of phalanx of hallux, Postaxial hand polydactyly, Cle... |
OMIM:236680 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Long philtrum, Wide nasal bridge, Micrognathia, Gingival overgrowth, Clinodact... |
OMIM:618529 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Thick upper lip vermilion, Bulbous nose, Anal atresia, Depressed nasal bridge |
OMIM:227260 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly |
ORPHA:2091 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Underdeveloped nasal alae, Patellar aplasia, Absent tibia, Hand ... |
OMIM:135750 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Atrial septal defect, Depressed nasal ... |
OMIM:616546 |
| Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Holoprosencephaly, Dysphagia, Bilateral talipes equi... |
OMIM:214800 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Knee flexion contracture, Preaxial hand polydactyly, Long philtrum, Pear-shaped nose, Thin upper ... |
OMIM:606242 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Mitten deformity, Enamel hypoplasia, Esophageal stricture, Narrow mouth, Oral mucosal blisters, A... |
OMIM:226600 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
| Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene... |
OMIM:311300 |
| Pierpont Syndrome |
|
Broad foot, Prominent subcalcaneal fat pad, Everted lower lip vermilion, Smooth philtrum, Deep pa... |
OMIM:602342 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Enamel hypoplasia, Congenital pyloric atresia, Urethrovesical occlusion, Death in infancy, Esopha... |
OMIM:226730 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Toe syndactyly, Micrognathia, Hydrocephalus, Radioulnar synostosis, Short nose, Sh... |
ORPHA:171839 |
| Meier-Gorlin Syndrome 7 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Dislocated radial head, Cleft pala... |
OMIM:617063 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Wide mouth, Microgn... |
ORPHA:163966 |
| Zimmermann-Laband Syndrome 3 |
|
Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2... |
OMIM:618658 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... |
ORPHA:363417 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, Partial duplic... |
OMIM:616331 |
| Down Syndrome |
|
Narrow palate, Depressed nasal ridge, Thick lower lip vermilion, Aganglionic megacolon, Microdont... |
ORPHA:870 |
| Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Ho... |
OMIM:107480 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Multicystic kidney dysplasia, Pierre-Robin sequence, Small hand, Wide nasal br... |
OMIM:619980 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Depressed nasal ridge, Wide nasal bridge, Short philtrum, Anal atresia, Downturned corners of mou... |
ORPHA:1807 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Ventricular hypertrophy, ... |
OMIM:143095 |
| Acrorenal Syndrome |
|
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Bicuspid aortic valve, ... |
OMIM:619343 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morphology, Hydroce... |
ORPHA:83473 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Gastroesophageal reflux, Vesicoureteral reflux, High palate, Long philtrum, Micrognathia, Anal at... |
OMIM:614080 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Epiphyseal stippling, Hydrocephalus, Macroglossia, Short nose, Depressed nasal ... |
ORPHA:1914 |
| Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Micrognathia, Mesoaxial polydact... |
ORPHA:2754 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Anal atresia, Renal hypoplasia, Urethral obstruction, Talipes equinovarus |
OMIM:601389 |
| Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Knee flexion contracture, Wrist flexion contracture, High palate, Hip co... |
OMIM:619110 |
| Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Abnormality of the lower limb, Abnormal morphology of ulna,... |
ORPHA:1040 |
| Clark-Baraitser Syndrome |
|
High palate, Long philtrum, Wide mouth, Clinodactyly, Short philtrum, Short nose, Thin upper lip ... |
OMIM:617752 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Abnormal foot morphology, Spina bifida, Toe syndactyly, Spina bifida occulta, ... |
ORPHA:64754 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Spina bifida occulta, 3-5 toe syndactyly, Bilateral talipes equinovarus, Vesicour... |
OMIM:300707 |
| Monosomy 18P |
|
Lymphedema, Hypertension, Holoprosencephaly, Microphthalmia, Brachydactyly |
ORPHA:1598 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of... |
OMIM:155050 |
| Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, High palate, Nephrotic syndrome, Abnormal foot morphology, Hydrocephalu... |
OMIM:269920 |
| Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Wide nasal bridge, Toe syndactyly, Microdontia, Broad hallux, Postaxial hand p... |
OMIM:620107 |
| Cloacal Exstrophy |
|
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Hydroureter, Hip dislocation, Anal atresia... |
ORPHA:93929 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal metaphysis morphology, Halberd-shaped pelvis, Clinodactyly of t... |
ORPHA:2635 |
| Atelosteogenesis Type Iii |
|
Short tibia, Hand clenching, High palate, Patellar dislocation, Vertebral hypoplasia, Short tubul... |
ORPHA:56305 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
| Mesomelia-Synostoses Syndrome |
|
Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral ... |
ORPHA:2496 |
| Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Anal atresia, Talipes equinovarus, Uraciluria |
OMIM:222748 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Dental malocclusion, Short 4th metacarpal, High palate, Wide nasal bridge, C... |
OMIM:601390 |
| Fanconi Anemia, Complementation Group W |
|
Absent thumb, Ventriculomegaly, Hypoplasia of the radius, Abnormal radial ray morphology, Renal h... |
OMIM:617784 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Pulmonic stenosis, Abnormal 3r... |
OMIM:249670 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,... |
ORPHA:94068 |
| Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, High palate, Short foot, Finger syndactyly, Aqueductal stenosis,... |
ORPHA:93258 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Short nose, ... |
OMIM:619736 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Tapered finger, Short 4th metacarpal, Hypodontia, Submucous c... |
ORPHA:3201 |
| Holoprosencephaly 11 |
|
Holoprosencephaly, Agenesis of corpus callosum |
OMIM:614226 |
| Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Hypoplasia of penis, Tracheoesophageal fistula, Anosmia, Cleft palate |
ORPHA:3157 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Choanal stenosis, Hypoplasia of the radius, Depressed nasal bridge, Distally placed thumb, Short ... |
OMIM:179270 |
| Fanconi Anemia, Complementation Group D1 |
|
Short thumb, Anal atresia |
OMIM:605724 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Microretrognathia,... |
ORPHA:2994 |
| Autosomal Recessive Omodysplasia |
|
Rhizomelia, Long philtrum, Micrognathia, Abnormal morphology of the radius, Short nose, Elbow dis... |
ORPHA:93329 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Anal atresia |
OMIM:274265 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... |
ORPHA:174 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Achalasia, Hypo... |
ORPHA:1018 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, High palate, Congenital megaureter, Myelomeningocele, 2-3 finger syndactyly, M... |
ORPHA:2437 |
| Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
| Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Short nose, Ab... |
ORPHA:884 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Lateral ventricle dilatation, Shortening of all distal phalanges of the finger... |
OMIM:615716 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent thumb, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Ectopic kidney, Hors... |
OMIM:602200 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Preaxial hand polydactyly, Death in infancy, ... |
ORPHA:1120 |
| Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... |
ORPHA:93333 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Short long bone, Short nose, Limb undergrowth, Brachydactyly, Genu recurvatum |
ORPHA:221054 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Choanal stenosis, Pierre-Robin sequence, Cleft soft palate, Ventriculomegaly, Secundum atrial sep... |
OMIM:620183 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tapered finger, Ventriculomegaly, Pes cavus, Deep longitudinal plantar crease, Dysphagia, Smooth ... |
ORPHA:280633 |
| Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Diaphyse... |
ORPHA:3144 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Mitral valve prolapse, Dermatoglyphic ridges abnorma... |
OMIM:211960 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
| Distal Monosomy 7Q36 |
|
Symphalangism affecting the phalanges of the hand, Holoprosencephaly, Clinodactyly of the 5th fin... |
ORPHA:1636 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
| Tarp Syndrome |
|
Short sternum, High palate, Postaxial polydactyly, Wide nasal bridge, Tongue nodules, Hypoplasia ... |
OMIM:311900 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Absent thumb, Ventricular septal defect, Fing... |
ORPHA:392 |
| Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short philtrum, Sh... |
OMIM:601224 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Median cle... |
ORPHA:2753 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Prominent nose, Hallux valgus, Short middle p... |
OMIM:251255 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short ribs, Short long bone, Femoral bowing, Syndactyly, Depressed nas... |
OMIM:615503 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Diastema |
OMIM:179250 |
| Caudal Regression Syndrome |
|
Vesicoureteral reflux, Arrhinencephaly, Talipes equinovarus, Missing ribs, Anal atresia, Abnormal... |
ORPHA:3027 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency |
OMIM:615991 |
| Johanson-Blizzard Syndrome |
|
Underdeveloped nasal alae, Hydronephrosis, Abnormal nostril morphology, Abnormal cardiac septum m... |
ORPHA:2315 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Semilobar holoprosencephaly, Ventricular septal defect |
OMIM:245552 |
| Temple Syndrome |
|
Wide nose, High palate, Small hand, Micrognathia, Bifid uvula, Clinodactyly, Short philtrum, Hydr... |
OMIM:616222 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Renal cyst, Postaxi... |
OMIM:603194 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Syndactyly, Renal hypoplasia, B... |
OMIM:616589 |
| Pfeiffer Syndrome |
|
Short middle phalanx of toe, Choanal stenosis, High palate, Finger syndactyly, Humeroradial synos... |
OMIM:101600 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Patent foramen ovale, Abnormality of upper lip vermillion, High palate, Hallux va... |
ORPHA:506358 |
| Developmental And Epileptic Encephalopathy 36 |
|
Anteverted nares, Hydrocephalus, Small hand, Microretrognathia |
OMIM:300884 |
| Kindler Syndrome |
|
Gingivitis, Periodontitis, Phimosis, Esophageal stenosis, Palmoplantar hyperkeratosis, Urethral s... |
OMIM:173650 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... |
OMIM:618728 |
| Trisomy 4P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Radial club hand, Abnormal palate morphology,... |
ORPHA:1738 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Delayed eruption of teeth,... |
ORPHA:166272 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Absent nares, Encephalocele, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, Hyp... |
ORPHA:2166 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Short nose, Delayed erupti... |
OMIM:618506 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
| Cono-Spondylar Dysplasia |
|
Short 4th toe, Short lower limbs, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal ... |
ORPHA:420794 |
| Alagille Syndrome |
|
Ventricular septal defect, Nephrotic syndrome, Micrognathia, Short philtrum, Clinodactyly of the ... |
ORPHA:52 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Patent foramen ovale, ... |
OMIM:618316 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Convex nasal ridge, Toe sy... |
ORPHA:1540 |
| Bnar Syndrome |
|
Short lingual frenulum, Bifid nose, Anteriorly placed anus, Abnormal fifth toe morphology, Anal s... |
ORPHA:217266 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Polydactyly, Renal insufficiency |
OMIM:615987 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal mal... |
ORPHA:2973 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Gastroesophageal reflux, High palate, Pierre-Robin sequence, Wide nasal bridge, Micrognathia, Cli... |
OMIM:613604 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Ulnar deviation of the hand, Anencephaly, Bifid uvula, Camptodactyly, D... |
OMIM:614175 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
| Down Syndrome |
|
Hypoplastic iliac wing, Atrioventricular canal defect, Double outlet right ventricle, Patent fora... |
OMIM:190685 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Bilateral talipes equinovarus, Right ... |
OMIM:306955 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Deviation of finger, Anophthalmia |
ORPHA:1104 |
| Joubert Syndrome 18 |
|
Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Renal cyst, Horsesho... |
OMIM:614815 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thick upper lip vermilion, High palate, Prominent nasal bridge, Hydrocephalus, Short nose, Thin u... |
OMIM:300558 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Short toe, Dental malocclusion, High palate, Hallux valgus, Toe syndacty... |
ORPHA:1327 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hypoplastic iliac wing, Genu varum, Genu valgum, Metaphyseal irregularity, Coxa vara, Hypoplastic... |
OMIM:613330 |
| Distal Trisomy 18Q |
|
Camptodactyly of finger, High palate, Micrognathia, Abnormality of dental morphology, Clinodactyl... |
ORPHA:1716 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Death in infancy, Hydrocephalus, Dandy-Walker malformation, Slender fi... |
OMIM:147800 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent nose, Cleft soft palate, Abnormal preputium morphology, Lateral ventricle dilatation, P... |
ORPHA:293725 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Wide mouth, Short femur, Intestinal malrotation, Gastroin... |
OMIM:617798 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Urethral stricture, Palmoplantar hyperkeratosis, Dilated cardiomyopathy, Or... |
OMIM:613989 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
2-3 toe syndactyly, Aplasia of the 1st metacarpal, Unilateral radial aplasia, Tapered finger, Par... |
ORPHA:476126 |
| Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, 2-3 toe syndactyly, 1-4 toe syndactyly, Pierre-Robin sequence, Ventricu... |
OMIM:617201 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Vesicoureteral reflux, Mitral atresia, Renal insufficiency, Wide nasal bridge, Abnormal cardiac s... |
ORPHA:140952 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Cleft upper lip, Tapered finger, Wide nasal bridge, Aganglionic megacolon, Hydrocephal... |
OMIM:239300 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Coxa valga, Long philtrum, Abnormality of the elbow, Micrognathia, Flat acetabular r... |
ORPHA:163649 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Foot polydactyly, Abnormality of the humeru... |
ORPHA:3186 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Small hand, Long philtrum, Lateral ventricle dilatation, Right ventricular dilatatio... |
OMIM:612863 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Multicystic kidney dysplasia, Hydrocephalus, Postaxial foot polydactyly, Postaxial h... |
OMIM:607361 |
| Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Anal atresia, Congenital hip dislocation, Xeros... |
OMIM:100100 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Peho-Like Syndrome |
|
Open mouth, Tapered finger, Ventriculomegaly, Short nose |
OMIM:617507 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Talipes equinovarus, Anal atresia, Dysphagia, Bulbous nose, Pes planus |
OMIM:617695 |
| Nager Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Hypoplas... |
ORPHA:245 |
| Short-Rib Thoracic Dysplasia 12 |
|
Patent ductus arteriosus, Short toe, Patent foramen ovale, Neonatal death, Polyhydramnios, Short ... |
OMIM:269860 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Short nose, Depressed nasal br... |
OMIM:618961 |
| Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Wide nasal bridge, Micrognathia, Tetraphocomelia, Elbow ... |
OMIM:268300 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Wide nasal bridge, Aplasia/hypoplasia of the femur, Elbow flexion contra... |
OMIM:276820 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Depressed nasal ridge,... |
OMIM:300863 |
| Hamamy Syndrome |
|
Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Atrial septal defect, Down-sloping... |
OMIM:611174 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Short nose, Hy... |
ORPHA:2701 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Ventriculomegaly, Ulnar deviation of the wrist, Micrognathia, C... |
OMIM:618577 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, High palate, Short 5th metacarpal, Pierre-Robin sequence, Long philt... |
OMIM:617877 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Communicating hydrocephalus, Anal atresia, Tracheoesophageal fistula, ... |
ORPHA:1780 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Gastroesophageal reflux, Vesicoureteral reflux, Tapered finger, Ventriculomegaly, Natal tooth, Th... |
ORPHA:261652 |
| Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Genu valgum, Rhizomelia, Micrognathia, Pyloric stenosis, Micromelia, S... |
OMIM:613848 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic pubic bone, Hypoplastic ilia, Wide nasal bridge, Short ribs, Short long bone, Microgn... |
ORPHA:1865 |
| C Syndrome |
|
Renal cortical cysts, Wide nasal bridge, Toe syndactyly, Micrognathia, Hip dislocation, Dislocate... |
OMIM:211750 |
| Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anophthalmia, Anterior hypopituitarism, Ho... |
OMIM:147250 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
| Ulbright-Hodes Syndrome |
|
Convex nasal ridge, Humeroradial synostosis, Micrognathia, Phocomelia, Abnormal forearm bone morp... |
ORPHA:3404 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Micrognathia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Micrognathia, Hypoplasia of proximal radius, Glossoptosis, Vesicoureteral reflux... |
ORPHA:444077 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Hypoplastic left atrium, Ventricular septal defect, Anophthalmia |
OMIM:615524 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent foramen ovale, Delayed eruption of teeth, Nephrocalcinosis, Micrognathia, Bifid uvula, Sub... |
OMIM:300990 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Preaxial hand polyda... |
ORPHA:2549 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Dysphagia, Cleft palate, Patent foramen ovale, Overhanging nasal tip, Ventricula... |
OMIM:618494 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Prominent nose, Long philtrum, Wide nasal bridge, Abnormal cardiac septum morphology... |
OMIM:301022 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Depressed nasal bridge, Narrow mouth, Postaxial po... |
OMIM:615984 |
| Agnathia-Otocephaly Complex |
|
Polyhydramnios, Secundum atrial septal defect, Holoprosencephaly, Situs inversus totalis, Agenesi... |
OMIM:202650 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal bridge, Micrognathia, Hydr... |
ORPHA:1516 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Bifid uvula, Hydrocephalus, Hypertrophic cardiomyopathy, Protruding to... |
OMIM:612938 |
| Acromelic Frontonasal Dysplasia |
|
Meningocele, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Ventriculomegaly, Wide mouth, ... |
ORPHA:1827 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Ventriculomegaly, Ventricular septal defect, Short long bone, Short ribs, Hydrocepha... |
OMIM:615630 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Clinodactyly, ... |
OMIM:614261 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Ventriculomegaly, Abnormal cardiac septum morphology, Micrognathia, Abno... |
OMIM:249000 |
| Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus, Adducted thumb, Pes cavus, Talipes equinovarus |
OMIM:303350 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Short uvula, Cleft palate, Short ribs, Polycyst... |
OMIM:614091 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Syndactyly, Depressed na... |
OMIM:602501 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micrognathia, Hydrour... |
ORPHA:2547 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Pierre-Robin sequence, Abnormal cardiac septum morphology, Micrognathia, Clinodactyly, Tracheal s... |
OMIM:217980 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Coxa valga, Micrognathia, Irregular distal femoral epiphysis, Bifid uv... |
OMIM:154780 |
| Occipital Horn Syndrome |
|
Genu valgum, Convex nasal ridge, Coxa valga, High palate, Capitate-hamate fusion, Long philtrum, ... |
OMIM:304150 |
| Edinburgh Malformation Syndrome |
|
Micrognathia, Hydrocephalus, Ulnar deviation of finger, Short nose, Downturned corners of mouth, ... |
ORPHA:1895 |
| Chung-Jansen Syndrome |
|
High palate, Tapered finger, Long philtrum, Micrognathia, Hip dysplasia, Clinodactyly of the 5th ... |
OMIM:617991 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Genu valgum, Advanced ossification of carpal bones, High palate, Coxa valga, S... |
OMIM:618363 |
| Genitopatellar Syndrome |
|
Short phalanx of finger, Patellar dislocation, Wide nasal bridge, Delayed eruption of teeth, Micr... |
OMIM:606170 |
| Imagawa-Matsumoto Syndrome |
|
Clinodactyly, Camptodactyly, Wide nasal ridge, Anteriorly placed anus, Long foot, Large hands, Um... |
OMIM:618786 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ... |
OMIM:619702 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... |
ORPHA:457395 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Finger syndactyly, Micrognathia, Brachydactyly, Short nose, Split hand, Micro... |
ORPHA:2145 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... |
OMIM:253800 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Tapered finger, Hallux valgus, Patellar subluxation, Wide nasal bridge, Ventriculomegaly, Promine... |
ORPHA:480880 |
| Verheij Syndrome |
|
Short 5th finger, Long philtrum, Wide nasal bridge, Abnormal cardiac septum morphology, Clinodact... |
OMIM:615583 |
| Codas Syndrome |
|
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Hydroureter, Abnormality ... |
ORPHA:1458 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Abnormal fo... |
ORPHA:93307 |
| Iniencephaly |
|
Mandibular aplasia, Spinal dysraphism, Rhizomelia, Encephalocele, Myelomeningocele, Spina bifida,... |
ORPHA:63259 |
| Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Gastroesophageal reflux, Polydactyly, 3-Methylglutaconic aciduria, Patent foramen ovale, Abnormal... |
ORPHA:17 |
| Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tapered finger, Ventricular septal defect, Interphalangeal thumb joint contracture, Aganglionic m... |
OMIM:613870 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Microdontia, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Short nos... |
OMIM:619356 |
| Carpenter Syndrome 1 |
|
Coxa valga, Lateral displacement of patellae, Toe syndactyly, Micrognathia, Flared iliac wing, Ca... |
OMIM:201000 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... |
OMIM:601668 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Median cleft lip ... |
ORPHA:1832 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly |
OMIM:618955 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele, Oligohydramnios |
OMIM:615397 |
| Opitz Gbbb Syndrome |
|
Umbilical hernia, Gastroesophageal reflux, Cleft upper lip, Vesicoureteral reflux, High palate, V... |
OMIM:300000 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Ventriculomegaly, Ventricular septal defect, Anteriorly placed anus, Proximal p... |
OMIM:618624 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
| Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Ventricular sept... |
OMIM:169400 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Long philtrum, Wide nasal bridge, Micrognathia, Thin upper lip vermilion, Downturned corners of m... |
OMIM:615761 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Prominent nose, Esophageal stenosis, Short philtrum, Downturned corners of mouth, Dysp... |
OMIM:615510 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Bilat... |
OMIM:269250 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Prominent nose, Wide nasal bridge, Hydrocephalus, Depressed nasal bridge, Sandal gap... |
ORPHA:2180 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Polyhydramnios, Holoprosencephaly, Situs inversus totalis, Agenesis of corpus callosum |
ORPHA:990 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia, Hydronephrosis |
OMIM:235760 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Non-Distal Trisomy 10Q |
|
Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermilion, Depressed... |
ORPHA:1695 |
| Brachyolmia Type 1, Hobaek Type |
|
Short femoral neck, Short long bone, Short iliac bones, Flat acetabular roof, Sclerotic foci of m... |
OMIM:271530 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Micrognathia, Bifid humerus, Flat acetabular roof, Hitchhiker thumb, Abnormal p... |
OMIM:256050 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Femoral bowing, Short femur, Osteosclerosis of the ulna, Premature loss of tee... |
OMIM:602080 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Encephalocele, Joint contracture of the hand, Short ribs, ... |
OMIM:224400 |
| Humero-Radial Synostosis |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... |
ORPHA:3265 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Wide nose, Tapered finger, High palate, Long philtrum, Depressed nasal r... |
ORPHA:261337 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Micrognat... |
ORPHA:1507 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Clinodactyly, Radioulnar synostosis, Preaxial polydactyly, Penoscrotal hypospadi... |
OMIM:248340 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... |
ORPHA:1570 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Wide nasal ... |
OMIM:617102 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Wide nasal bridge, Micrognathia, Bifid uvula, Abnormal oral frenulum morpholo... |
ORPHA:404440 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Esophageal stricture, Microdontia, Palmoplantar hyperkeratosis, Oral leukoplakia, Carious teeth |
OMIM:224230 |
| Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Broad foot, Micrognathia, Prominent nasal tip, Broad hallux, Abnormal de... |
ORPHA:439822 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Horseshoe kidney, Low hanging columella, Anal atresia |
OMIM:619318 |
| Stickler Syndrome Type 1 |
|
Long philtrum, Mitral valve prolapse, Short nose, Cleft palate, Abnormal epiphysis morphology, Ab... |
ORPHA:90653 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic aciduria, High palate, Long philtrum, Elevated urinary aminoisobutyric acid, Elevat... |
OMIM:614105 |
| Glutamine Deficiency, Congenital |
|
Decreased CSF glutamine concentration, Wide nasal bridge, Lateral ventricle dilatation, Camptodac... |
OMIM:610015 |
| Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Abnormality of the tarsal bones, Synostosis of ca... |
ORPHA:90650 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Abnormality of the anus, Patellar aplasia, Ventricular ... |
ORPHA:96167 |
| Stuve-Wiedemann Syndrome 2 |
|
Short long bone, Camptodactyly, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Bowi... |
OMIM:619751 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Bresek Syndrome |
|
Vesicoureteral reflux, Convex nasal ridge, Aganglionic megacolon, Hydrocephalus, Renal hypoplasia... |
ORPHA:85284 |
| Ruvalcaba Syndrome |
|
Convex nasal ridge, Cone-shaped epiphysis, Small hand, Short metacarpal, Abnormality of the elbow... |
ORPHA:3121 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:615433 |
| Opitz Gbbb Syndrome |
|
Ventriculomegaly, Ectopic anus, Wide nasal bridge, Micrognathia, Dysphagia, Cleft palate, Vesicou... |
ORPHA:2745 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Ventriculomegaly, Foot polydactyly, Toe syndactyly,... |
ORPHA:1553 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Micrognathia, Limb undergrowth, Cleft palate, Talipes equi... |
OMIM:263650 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Underdeveloped nasal alae, Bifid distal phalanx of the thumb, Convex nasal ridge, Long philtrum, ... |
OMIM:618419 |
| Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Wide nasal bridge, Toe syndactyly, Ventriculomegaly, Hip d... |
ORPHA:2308 |
| Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Brachydactyly, Flared metaphysis, Depressed nasa... |
OMIM:146000 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Ulnar devi... |
ORPHA:1529 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Semilobar holoprosencephaly, Short distal phalanx of finger |
OMIM:601370 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Rhizomelia |
OMIM:166990 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
| Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Non-midline cleft lip, Encephalocele, Ventricular septal defect,... |
ORPHA:1335 |
| 46,Xy Sex Reversal 4 |
|
High palate, Long philtrum, Prominent nose, Depressed nasal ridge, Micrognathia, Anal atresia, Ur... |
OMIM:154230 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Nephronophthisis, Genu rec... |
OMIM:184260 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Convex nasal ridge, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hy... |
OMIM:617604 |
| Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly |
OMIM:614615 |
| Temple Syndrome |
|
Small hand, Hydrocephalus, Bifid uvula, Clinodactyly of the 5th finger, Short foot |
ORPHA:254516 |
| Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap |
OMIM:216300 |
| Immunodeficiency 23 |
|
Esophageal stricture, High palate, Membranoproliferative glomerulonephritis, Allergic rhinitis |
OMIM:615816 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Proximal tubulopathy, Ventriculomegaly, Ventricular septal defect, Death in in... |
OMIM:614576 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Hydrocephalus, Clinodactyly, Abnormal palate morphology, Hydronephrosis |
ORPHA:251046 |
| 3P25.3 Microdeletion Syndrome |
|
Tapered finger, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, Cleft palate,... |
ORPHA:435638 |
| Achondroplasia |
|
Limited elbow extension, Short nasal bridge, Rhizomelia, Short long bone, Flat acetabular roof, H... |
ORPHA:15 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Overlapping toe, Broa... |
OMIM:154400 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Short nose, Brachydactyly, Cone-shaped epiphysis, Delayed epiphyseal ossification |
OMIM:618618 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia |
ORPHA:2252 |
| Trisomy 17P |
|
Tapered finger, Micrognathia, Smooth philtrum, Cleft palate, Thick nasal alae, Orofacial cleft, P... |
ORPHA:261290 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, 3-4 finger cutaneous syndactyly, Holoprosencephaly, Sandal gap, Microp... |
OMIM:612530 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Esophageal stricture, Multicystic kidney dysplasia, Abnormal... |
ORPHA:79404 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Long philtrum, Micrognathia, Talipes equinovarus, Short nose, Pes cavus, Thin upper ... |
OMIM:613544 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad foot, Wide nasal bridge, Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared il... |
OMIM:312870 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Short humerus, Hydroxyprolinuria, Lateral femoral bowing, Premature loss of teeth, Increased urin... |
OMIM:239000 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, High palate, Long philtrum, Mitral valve prolapse, Camptodactyly, Dental cr... |
OMIM:615539 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Hydrocephalus, Adducted thumb, Arachnodactyly, High, narrow palate, Umbilic... |
ORPHA:2181 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Coxa valga, Clinodactyly of the 5th finger, Holoprosencephaly, Brachydactyly, Short distal phalan... |
ORPHA:2163 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Trisomy 13 |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Anophthalmia, Aplasia/Hypop... |
ORPHA:3378 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Short nose, Dep... |
OMIM:614613 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin sequence, Long philtrum, Ventriculome... |
ORPHA:1358 |
| Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Multicystic kidney dysplasia, Wide nasal bridge, Abnormal cardiac septum m... |
ORPHA:2075 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Cleft pala... |
OMIM:616894 |
| Alkuraya-Kucinskas Syndrome |
|
Hand clenching, High palate, Ventriculomegaly, Abnormal foot morphology, Micrognathia, Pericardia... |
OMIM:617822 |
| 49,Xxxxy Syndrome |
|
Pulmonary embolism, Coxa valga, Arrhinencephaly, Hip dislocation, Radioulnar synostosis, Down-slo... |
ORPHA:96264 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenes... |
OMIM:601355 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Hypospadias, Narrow mouth, An... |
ORPHA:1355 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Coxa valga, Wide nasal bridge, Micrognathia, Epiphyseal stippling... |
ORPHA:96334 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Renal cyst, Syndactyly, Brachydactyly, Abnormality of the dentition |
OMIM:615982 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia |
OMIM:620133 |
| Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Abnormal upper lip morphology, Short nose, Nephropathy, Anteverte... |
ORPHA:531 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Postaxial polydactyly, Ventricular septal defect, Atrial septal defect |
OMIM:615996 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Extra-axial cerebrospinal fluid accumulation, High palate, Long philtrum, Wide nasal bridge, Vent... |
OMIM:619383 |
| Adams-Oliver Syndrome |
|
Abnormality of the upper limb, Encephalocele, Absent toe, Finger syndactyly, Abnormal metacarpal ... |
ORPHA:974 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Short hallux, Split foot, Split... |
OMIM:119100 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Hydrocephalus, Death in infancy |
OMIM:258320 |
| Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Limb undergrowth, Intestinal obstruction, Dysphagia, Abno... |
ORPHA:321 |
| Ring Chromosome 13 Syndrome |
|
Urogenital sinus anomaly, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of t... |
ORPHA:96176 |
| Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Fibular aplasia |
OMIM:218550 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Micrognathia, Hydrocephalus, Short nose, Meckel diverticulum, Dysphagia, Thick ... |
ORPHA:163961 |
| 16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Hallux valgus, Tapered finger, Long philtrum, Wide mouth, A... |
ORPHA:485405 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Short upper lip, Micrognathia, Gingival overgrowth, Short philtrum, Anal atresia, Prominent finge... |
OMIM:616875 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Radial club hand, Abnormal morphology of the radius |
ORPHA:2165 |
| X-Linked Mandibulofacial Dysostosis |
|
Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Pulmonic stenosis |
ORPHA:1131 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Short ribs, Bowing of the arm, Hypoplasia of the radius, Abnormal foot bone o... |
OMIM:200600 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Convex nasal ridge, Micrognathia, Microdontia, Broad hallux,... |
ORPHA:251028 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Unilateral renal agenesis, Hypoplastic left heart, Anteriorly place... |
OMIM:617661 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
| Mosaic Trisomy 16 |
|
Short femoral neck, Short forearm, Abnormality of the gastrointestinal tract, Wide mouth, Ventric... |
ORPHA:1708 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Micrognathia, Radial bowing, Flat acetabular roof, Tombstone-shaped proximal phalange... |
OMIM:108721 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Gastroesophageal reflux, High palate, Coxa valga, Deep philtrum, Ventriculomegaly, Micrognathia, ... |
OMIM:619833 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| 16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Metatarsus valgus, Cleft upper lip, Ventriculom... |
ORPHA:261236 |
| Gastroschisis |
|
Intestinal atresia |
ORPHA:2368 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Ventricular septal defect, Joint contracture of the hand, Short long bone, Cu... |
OMIM:113000 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Patent foramen ovale, High palate, Long philtrum, Wide mouth, Wide nasal bridge, Thi... |
OMIM:618950 |
| 5Q14.3 Microdeletion Syndrome |
|
Ventriculomegaly, Toe syndactyly, Short philtrum, Short nose, Anteverted nares, Open mouth |
ORPHA:228384 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Short nose, Sandal gap, Tetralogy o... |
OMIM:300887 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Complete atrioventricular canal defect, Primum atrial sept... |
ORPHA:1329 |
| Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Lip pit, Ventriculomegaly, 2-3 finger syndactyly, Preaxial foot polyda... |
OMIM:601707 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Small hand, Widely spaced teeth, Micrognathia, Hydrocepha... |
ORPHA:459061 |
| Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... |
OMIM:615948 |
| Congenital Alveolar Capillary Dysplasia |
|
Atrioventricular canal defect, Pulmonary valve atresia, Ventricular septal defect, Volvulus, Agan... |
ORPHA:210122 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Micrognathia, Dysphagia, Scapular winging,... |
OMIM:617061 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Long philtrum, Short ribs, Hypoplasia of the radius, Ventricular septal defect,... |
OMIM:617895 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Wide nasal bridge, Hydrocephalus, Microretrognathia, Depressed nasal br... |
OMIM:220220 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Iliac crest serration, Metaphyseal cupping, Deep philtrum, Short ribs, Short long bone... |
OMIM:613320 |
| Immunodeficiency 43 |
|
Radial bowing, Hypoplasia of the ulna |
OMIM:241600 |
| Perlman Syndrome |
|
Wide nasal bridge, Micrognathia, Broad alveolar ridges, Hypoplasia of penis, Abnormal upper lip m... |
ORPHA:2849 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Micrognathia, Radial bowing, Lower limb undergrowth, Abnormality of the lowe... |
ORPHA:3035 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| 8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid... |
ORPHA:508488 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Broad femoral neck, Dental malocclusion, High p... |
OMIM:612350 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
| Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, Knee flexion contracture, High palate, Ulnar de... |
OMIM:114300 |
| Carpenter Syndrome 2 |
|
Wide nasal bridge, Camptodactyly, Talipes equinovarus, Narrow palate, Atrial septal defect, Dextr... |
OMIM:614976 |
| Aarskog-Scott Syndrome |
|
Broad foot, Short 5th finger, Wide nasal bridge, Radial deviation of finger, Curved linear dimple... |
OMIM:305400 |
| Non-Distal Trisomy 13Q |
|
High palate, Long philtrum, Micrognathia, Short nose, Everted lower lip vermilion, Arachnodactyly... |
ORPHA:1702 |
| Fraser Syndrome |
|
Bifid tongue, Midline nasal groove, Ectopic anus, Wide nasal bridge, Toe syndactyly, Orofacial cl... |
ORPHA:2052 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... |
OMIM:602875 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long bone, Micro... |
OMIM:614524 |
| Osteoglophonic Dysplasia |
|
Short phalanx of finger, Broad foot, Limb undergrowth, Short palm, Pseudoarthrosis, Eruption fail... |
OMIM:166250 |
| Wiedemann-Rautenstrauch Syndrome |
|
Convex nasal ridge, Delayed eruption of teeth, Micrognathia, Secundum atrial septal defect, Long ... |
OMIM:264090 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad foot, Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral... |
ORPHA:2502 |
| Muenke Syndrome |
|
Hydrocephalus, Carpal synostosis, Short palm, Tarsal synostosis, Short foot, High, narrow palate,... |
ORPHA:53271 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Renal insufficiency, Microdontia, Abnormal metacarp... |
ORPHA:1307 |
| Mucopolysaccharidosis, Type Ix |
|
Finger joint hypermobility, Bifid uvula, Submucous cleft hard palate, Popliteal synovial cyst, De... |
OMIM:601492 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, High palate, Ventricular septal defect, Wide mouth, Widely spaced teeth, Ab... |
ORPHA:369891 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Triphalangeal thumb, Vesicoureteral reflux, Dilated fourth ventricle, Ventricular septal defect, ... |
ORPHA:3078 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
| Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Absent thumb, Finger syndactyly, Toe syndactyly, Micrognathia, Median ... |
ORPHA:1234 |
| Kabuki Syndrome 1 |
|
Short 5th finger, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Anoperineal fist... |
OMIM:147920 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Ventriculomegaly, Hip dysplasia, Hydrocephalus, Deviation of the 5th finger, Unilateral renal age... |
OMIM:616362 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Bifid uvula, Clinodactyly of the 5th toe, Overlapping toe, ... |
ORPHA:264450 |
| Peters Plus Syndrome |
|
Ventriculomegaly, Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Spina bifida ... |
ORPHA:709 |
| Developmental And Epileptic Encephalopathy 73 |
|
Hip dysplasia, Narrow nasal bridge, Short nose |
OMIM:618379 |
| Congenital Tracheomalacia |
|
Gastroesophageal reflux, Ventricular septal defect, Esophageal atresia, Single ventricle, Atrial ... |
ORPHA:95430 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Hyposmia, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot poly... |
OMIM:615994 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Short nose, Hypoplastic ischia, Depressed nasal bridge, Hypospadias |
OMIM:616910 |
| Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
| Renpenning Syndrome 1 |
|
Wide nasal bridge, Micrognathia, Camptodactyly, Pes cavus, Synostosis of the proximal phalanx of ... |
OMIM:309500 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Gingivitis, Hydrocephalus, Periodontitis, Abnormality of the dentition |
ORPHA:1008 |
| Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
| Schilbach-Rott Syndrome |
|
Prominent nose, Micrognathia, Bifid uvula, Submucous cleft hard palate, 3-4 finger cutaneous synd... |
OMIM:164220 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Aplastic clavicle, Ectopic anus, Wide mouth, Micrognathia, Abnormality of dental morphology, Thic... |
ORPHA:85199 |
| Loeys-Dietz Syndrome 5 |
|
Cleft soft palate, Bifid uvula, Smooth philtrum, Scapular winging, Cleft palate, Flexion contract... |
OMIM:615582 |
| Tarp Syndrome |
|
Wide nasal bridge, Micrognathia, Alveolar ridge overgrowth, Hypoplasia of proximal radius, Cleft ... |
ORPHA:2886 |
| Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation... |
ORPHA:672 |
| Frontometaphyseal Dysplasia 2 |
|
Wide nasal bridge, Bifid uvula, Camptodactyly, Dislocated radial head, Cleft palate, Talipes equi... |
OMIM:617137 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Delayed eruption of teeth, Gingival overgrowth, Nonc... |
ORPHA:508542 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Wide nasal bridge, Clinodactyly, Epiphyseal dysplasia, ... |
OMIM:607131 |
| Moebius Syndrome |
|
Short phalanx of finger, Micrognathia, Bifid uvula, Camptodactyly, Radial deviation of finger, Dy... |
OMIM:157900 |
| Achondrogenesis Type 1A |
|
Long philtrum, Short foot, Micrognathia, Short nose, Anteverted nares, Micromelia, Short palm, Um... |
ORPHA:93299 |
| Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Depressed... |
ORPHA:1913 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Short foot, Long philtrum, Short ... |
OMIM:231050 |
| Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Patent ductus arteriosus, Finger syndactyly, Toe synd... |
ORPHA:65759 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Gastroesophageal reflux, Genu valgum, Tapered finger, Long philtrum, Bicuspid aortic valve, Clino... |
OMIM:619721 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Noncommunicating hydrocephalus, Short foot, Long philtrum, Wide nasal ... |
OMIM:619320 |
| Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Polydactyly, Renal insufficiency, Renal cyst |
OMIM:615993 |
| Sifrim-Hitz-Weiss Syndrome |
|
Vesicoureteral reflux, Tapered finger, Short femoral neck, Ventriculomegaly, Ventricular septal d... |
OMIM:617159 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
| Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, 2-3 toe syndactyly, Cleft upper lip, Bilateral choanal atresia/stenosi... |
OMIM:608572 |
| Developmental And Epileptic Encephalopathy 49 |
|
Thick upper lip vermilion, Prominent nose, Ventriculomegaly, Hydrocephalus, Short philtrum, Open ... |
OMIM:617281 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Meningocele, Multicystic kidney dysplasia, Ventriculomegaly, Clinodact... |
ORPHA:2031 |
| Achondrogenesis Type 1B |
|
Long philtrum, Micrognathia, Short nose, Anteverted nares, Micromelia, Umbilical hernia, Short fo... |
ORPHA:93298 |
| Isolated Exencephaly |
|
Polyhydramnios, Anterior pituitary hypoplasia, Holoprosencephaly, Posterior pituitary agenesis, A... |
ORPHA:563612 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Bilateral choanal atresia/stenosis, Wide nasal bridge, Ventriculomegaly, Mic... |
ORPHA:314679 |
| Thanatophoric Dysplasia |
|
Ventriculomegaly, Hip dysplasia, Hydrocephalus, Atrial septal defect, Brachydactyly, Depressed na... |
ORPHA:2655 |
| Cartilage-Hair Hypoplasia |
|
Convex nasal ridge, Spinal dysraphism, Wide nasal bridge, Abnormal cardiac septum morphology, Abn... |
ORPHA:175 |
| Cdags Syndrome |
|
Short ribs, Anal atresia, Hypospadias, Short clavicles, Cleft palate, Rectovaginal fistula, Recto... |
OMIM:603116 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, High palate, Tapered finger, Wide nasal bridge, Ventriculomegaly, Short nose,... |
OMIM:218000 |
| Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Dislocate... |
OMIM:122470 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Abnormal nostril morphology, Abnormal metacarpal morphology, Hypoplasia of penis, Sh... |
ORPHA:1295 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Genu recurvatum, Delaye... |
OMIM:177170 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Colpocephaly, Ventricular septal defect, Hydrocephalus, Anal atresia... |
OMIM:309801 |
| Joubert Syndrome 10 |
|
Deep philtrum, Wide nasal bridge, Postaxial polydactyly, Thick vermilion border |
OMIM:300804 |
| Marshall-Smith Syndrome |
|
Ventriculomegaly, Slender long bone, Gingival overgrowth, Short nose, Protruding tongue, Antevert... |
ORPHA:561 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Vesicoureteral reflux, Hallux valgus, Everted upper ... |
OMIM:619951 |
| Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Genu valgum, Clinodactyly of the 5th finger, Clubbing, Postaxial f... |
OMIM:619143 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Broad foot, Coxa valga, Advanced ossification of carpal bones, Bifid uvu... |
OMIM:615777 |
| Microphthalmia, Syndromic 3 |
|
Vertebral hypoplasia, Ventricular septal defect, Esophageal atresia, Missing ribs, Hypospadias, M... |
OMIM:206900 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia |
ORPHA:93950 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... |
ORPHA:2633 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Patellar dislocation, Wide nasal bridge, Truncus arteriosus, Micrognathia, Cleft pal... |
ORPHA:567 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Cleft upper lip, Single naris, Micrognathia, Hydrocephalus, Tetraamelia, Anal a... |
OMIM:273395 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Short nose, Depressed nasal bridge, Anosmia, Short distal phalanx of finger... |
OMIM:302950 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, High palate, Clinodactyly of the 5th finger, Upper limb asymmetry, Dental crowding, ... |
ORPHA:231140 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... |
OMIM:609616 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Short 5th metacarpal, Pierre-Robin sequence, Large tarsal bones, Short l... |
OMIM:215150 |
| Raine Syndrome |
|
Micrognathia, Microdontia, Cleft palate, Gingival overgrowth, Choanal atresia, Long hallux, Hydro... |
OMIM:259775 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hip dysplasia, Hypoplasia of penis, Tracheal stenosis, Short foot, Dandy-Walker malformation, Abn... |
OMIM:601427 |
| Meckel Syndrome |
|
Preaxial hand polydactyly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Anencepha... |
ORPHA:564 |
| Lethal Recessive Chondrodysplasia |
|
Short long bone, Micrognathia, Flared elbow metaphyses, Macroglossia, Limb undergrowth, Micromelia |
ORPHA:1423 |
| Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Cleft upper lip, Delayed eruption of primary teeth, Wide nasal bridge, V... |
ORPHA:819 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Toe syndactyly, Micrognathia, Taurodontia, Median... |
ORPHA:2710 |
| Holoprosencephaly 7 |
|
Hydrocephalus, Semilobar holoprosencephaly, Panhypopituitarism, Alobar holoprosencephaly, Lobar h... |
OMIM:610828 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Achalasia, Tapered finger, Micrognathia, Hip dislocation, Delayed epiphyseal ossification, Genu v... |
OMIM:616007 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Bifid uvula, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
| Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Short philtrum, Dandy-Walke... |
OMIM:614424 |
| Mucopolysaccharidosis Type 1 |
|
Widely spaced teeth, Malabsorption, Microdontia, Thick lower lip vermilion, Abnormal nasal morpho... |
ORPHA:579 |
| Roberts Syndrome |
|
Wrist flexion contracture, Micrognathia, Long penis, Phocomelia, Radial deviation of finger, Clef... |
ORPHA:3103 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, High palate, Long philtrum, Wide nasal bridge, Abnormal cardiac septum mor... |
ORPHA:250989 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, High palate, Small hand, Micrognathia, Pyloric stenosis, Bifid uvula, Clinodactyly, Sh... |
ORPHA:96184 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Micrognathia, Thin upper lip vermilion, Anal atresia |
OMIM:619243 |
| Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular septal defect, Anophthalmia, Ant... |
ORPHA:2162 |
| Nijmegen Breakage Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Hydronephrosis, Deep philtrum, Micrognathia, Recurrent bronc... |
OMIM:251260 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Long philtrum, Elbow ankylosis, Narrow pelvis bone, Femoral bowing, Shor... |
ORPHA:83 |
| Rothmund-Thomson Syndrome |
|
Broad ulna, Delayed eruption of teeth, Selective tooth agenesis, Microdontia, Metaphyseal striati... |
ORPHA:2909 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Clinodactyly of the 5th finger, Microretrognathia, Short nose, Spi... |
ORPHA:1786 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Short nose |
ORPHA:2598 |
| Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Abnormal epiphysis morphology, Hydrocephalu... |
ORPHA:2770 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Bicuspid aortic valve, Clinodactyly of the 5th finge... |
OMIM:618619 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Death in infancy, Short long bone, Bicuspid aortic valve, Unilater... |
OMIM:618845 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Micrognathia, Gingival overgrowth, Short philtrum, Anal atresia, Prominent fingertip pads |
ORPHA:480898 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Choanal stenosis, Long philtrum, Humeroradial synostosis, Narrow pelvis bone, Ulnar bowing, Campt... |
OMIM:207410 |
| Lowry-Maclean Syndrome |
|
Midgut malrotation, Talon cusp, Atrioventricular canal defect, Convex nasal ridge, Short nasal br... |
ORPHA:2409 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Short ribs, Short long b... |
OMIM:187600 |
| Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Long philtrum, Wide mouth, Wide nasal bridge, Ventriculomegaly, Bicuspid aortic ... |
OMIM:243310 |
| Trisomy 20P |
|
Camptodactyly of finger, Ectopic anus, Micrognathia, Microdontia, Everted lower lip vermilion, Ab... |
ORPHA:261318 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Ventriculomegaly, Micrognathia, Hypoplasia of... |
ORPHA:2083 |
| Limb Body Wall Complex |
|
Wide nasal bridge, Broad hallux, Spina bifida occulta, Abnormal intestine morphology, Aplasia of ... |
ORPHA:2369 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Hip dysplasia, Wide nasal ridge, Downturned corners of mouth, Abnormal tongue morpho... |
ORPHA:531151 |
| Baker-Gordon Syndrome |
|
Gastroesophageal reflux, Abnormal foot morphology, Prominent nasal tip, Short nose, Thin upper li... |
OMIM:618218 |
| Buratti-Harel Syndrome |
|
Gastroesophageal reflux, High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft ... |
OMIM:619314 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
| Alagille Syndrome 1 |
|
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Ventricular ... |
OMIM:118450 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Smooth philtrum, Dan... |
ORPHA:438178 |
| 1Q41Q42 Microdeletion Syndrome |
|
Holoprosencephaly, Talipes equinovarus |
ORPHA:250999 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Thick upper lip vermilion, Wide nasal bridge, Rhizo-meso-acromelic limb ... |
OMIM:611717 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Thick upper lip vermilion, Long philtrum, Wide mouth, Short long bone, Thick lower lip vermilion,... |
ORPHA:163654 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Ventriculomegaly, Micrognathia, Elbow flexion contracture, Limb undergro... |
ORPHA:508533 |
| Mckusick-Kaufman Syndrome |
|
Pedal edema, Vesicovaginal fistula, Aganglionic megacolon, Hydroureter, Polycystic kidney dysplas... |
OMIM:236700 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Selective tooth agenesis, Toe syndactyly, Microdontia, Depressed nasal tip, Cleft palate, Choanal... |
OMIM:129900 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad foot, Genu valgum, Hypoplastic sacrum, Metaphyseal dysplasia, Upper limb undergrowth, Capit... |
OMIM:271650 |
| Fried Syndrome |
|
Short philtrum, Hydrocephalus, High palate |
ORPHA:85335 |
| Tonne-Kalscheuer Syndrome |
|
Convex nasal ridge, Prominent nose, Wide nasal bridge, Widely spaced teeth, Micrognathia, Velopha... |
OMIM:300978 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Enamel hypoplasia, Patent foramen ovale, Pierre-Robin sequence, Short long bone... |
OMIM:619184 |
| Facial Paresis, Hereditary Congenital, 3 |
|
High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas... |
OMIM:614744 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Coxa vara, Short tubular bones of the hand, Short long bone, Short greater sciatic n... |
OMIM:184253 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifid... |
ORPHA:63260 |
| Diphallia |
|
Duplicated colon, Absent thumb, Abnormality of the gastrointestinal tract, Penoscrotal transposit... |
ORPHA:227 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Hallux valgus, Spatulate thumbs, Micrognathia, Microdontia, Elbow flexion c... |
OMIM:245600 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camptodactyly, Metatarsal... |
ORPHA:95699 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Areflexia of lower limbs, Abnormal foot morphology, T... |
ORPHA:99947 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Anophthalmi... |
OMIM:610829 |
| Stevens-Johnson Syndrome |
|
Esophageal stricture, Dysuria, Gastrointestinal hemorrhage, Dysphagia, Renal insufficiency, Abnor... |
ORPHA:36426 |
| Oeis Complex |
|
Duplicated colon, 11 pairs of ribs, Myelomeningocele, Vesicovaginal fistula, Absence of the sacru... |
OMIM:258040 |
| Penile Agenesis |
|
Anorectal anomaly, Absent penis, Ventricular septal defect, Urethral fistula, Hydroureter, Cystic... |
ORPHA:49 |
| 8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, High palate, Tapered finger, Wide nasal bridge, Abnormal cardiac s... |
ORPHA:251071 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Abnormal metacarpal morphology, Hydrocephalus, Abnormal palate morphology, Br... |
ORPHA:93262 |
| Orofaciodigital Syndrome Type 1 |
|
Lip pit, Wide nasal bridge, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Odontogen... |
ORPHA:2750 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Tapered finger, Thick lower lip vermilion, Long hallux, Short nose, Thin upper lip vermilion, Ant... |
OMIM:619854 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Foot polydactyly, Micrognathia, Hydrocephalus, Bifid nose, Tracheoesop... |
ORPHA:268249 |
| Ohdo Syndrome |
|
Long philtrum, Wide nasal bridge, Widely spaced teeth, Abnormal foot morphology, Micrognathia, Cl... |
OMIM:249620 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Cleft palate, Rocker bottom foot, Choanal atresia, Overhang... |
ORPHA:163979 |
| Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... |
ORPHA:92050 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Camptod... |
OMIM:611209 |
| Al-Raqad Syndrome |
|
Atrial septal defect, Short nose, Thin upper lip vermilion, Narrow mouth, Sandal gap, Brachydactyly |
OMIM:616459 |
| 3Q29 Microduplication Syndrome |
|
High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Toe syndactyly, Wide nasal b... |
ORPHA:251038 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hypoplasia, Femoral bowing,... |
OMIM:616723 |
| Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Agenesis of corpus callosum, Hip dislocation, Cl... |
OMIM:613884 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Clinodactyly, Short philtrum, ... |
OMIM:615866 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Nephropathy, Anteverted na... |
ORPHA:220497 |
| Fetal Hydantoin Syndrome |
|
Triphalangeal thumb, Depressed nasal ridge, Wide mouth, Short nose, Everted lower lip vermilion, ... |
ORPHA:1912 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Hydrocephalus, Death in infancy |
OMIM:129850 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Micrognathia, Submucous cleft soft palate, Everted lower lip ve... |
OMIM:608670 |
| Arthrogryposis, Distal, Type 2A |
|
Wrist flexion contracture, Ulnar deviation of the hand or of fingers of the hand, Wide nasal brid... |
OMIM:193700 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
High palate, Wide nasal bridge, Mitral valve prolapse, Hydrocephalus, Syndactyly, Congenital hip ... |
OMIM:104350 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Long philtrum, Microretrognathia, Short nose, Abnormal palate morphology, Postaxial hand polydactyly |
ORPHA:1389 |
| Townes-Brocks Syndrome |
|
Abnormal cardiac septum morphology, Toe syndactyly, Absent toe, Vesicoureteral reflux, Hypoplasia... |
ORPHA:857 |
| Albers-Schönberg Osteopetrosis |
|
Genu valgum, Abnormal metacarpal morphology, Hydrocephalus, Short distal phalanx of finger, Cario... |
ORPHA:53 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta, Narrow nasal bridge |
ORPHA:1514 |
| Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares, Smooth philtrum |
ORPHA:46 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Polydactyly, Anterior pituitary hypoplasia, Decreased response to growth hormone sti... |
ORPHA:95494 |
| Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, Agenesis of corpus callosum, Semilobar holoprosencephal... |
OMIM:618651 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Foot polydactyly, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Dextroca... |
ORPHA:220493 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Ventricular septal defect, Aganglionic megacolon, An... |
OMIM:174300 |
| Burn-Mckeown Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilateral choanal atresia, Abn... |
ORPHA:1200 |
| Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Hip dislocation, Abnormality of the wrist, Dysphagia, Short palm, A... |
ORPHA:198 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Broad alveolar... |
OMIM:164200 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Postaxial polydactyly |
OMIM:615985 |
| Smith-Kingsmore Syndrome |
|
Rhizomelia, Wide mouth, Long philtrum, Deep palmar crease, Short proximal phalanx of finger, Shor... |
OMIM:616638 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Epiphyseal dysplasia, Depressed nasal bridge, Hypospadias, Metaphyseal dysplasia, Mic... |
OMIM:614732 |
| Microform Holoprosencephaly |
|
Holoprosencephaly, Tetralogy of Fallot, Panhypopituitarism, Agenesis of corpus callosum |
ORPHA:280200 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Desmosterolosis |
|
Ventriculomegaly, Micrognathia, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Metatars... |
ORPHA:35107 |
| Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Absent thumb, Patent foramen ovale, Ventricular septal defect, Short 1st m... |
OMIM:609053 |
| 1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, High palate, Ventriculomegaly, Abnormal cardiac septum morphology, Microgn... |
ORPHA:238769 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Microdontia, Hydrocephalus, Hypoplasia of penis, Short nose, Depressed nasal br... |
ORPHA:1812 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad foot, Genu valgum, Upper limb undergrowth, Short metatarsal, Abnormal carpal morphology, Co... |
ORPHA:93351 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... |
OMIM:608728 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... |
OMIM:149730 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Abnormality ... |
ORPHA:1794 |
| Cerebrooculonasal Syndrome |
|
High palate, Narrow palate, Long philtrum, Ventriculomegaly, Proboscis, Encephalocele, Hydrocepha... |
OMIM:605627 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
| Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Renal cyst, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
| Radio-Renal Syndrome |
|
Convex nasal ridge, Multicystic kidney dysplasia, Abnormality of the elbow, Hypoplasia of the rad... |
ORPHA:3015 |
| Joubert Syndrome |
|
Encephalocele, Foot polydactyly, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Situs in... |
ORPHA:475 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventriculomegaly, Wide nasal bridge, Micrognathia, 2-3 toe cutaneous syndactyly, Smooth philtrum,... |
OMIM:618454 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Wide nose, Multicystic kidney dysplasia, Long philtrum, Ventriculomegaly, Microgna... |
OMIM:257300 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Short philtrum, Hypoplasia of penis, Short nose, Spina bifida occulta, Downturned co... |
ORPHA:2983 |
| Myopathy, Centronuclear, X-Linked |
|
Dental malocclusion, High palate, Pyloric stenosis, Slender toe, Hydrocephalus, Arachnodactyly, D... |
OMIM:310400 |
| L1 Syndrome |
|
Adducted thumb, Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Mes... |
ORPHA:97360 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of ... |
ORPHA:1836 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Wide nasal bridge, Median cleft lip, Radial deviation of finger, Alveo... |
OMIM:311200 |
| Hurler Syndrome |
|
Coxa valga, Wide nasal bridge, Microdontia, Flared iliac wing, Hypoplasia of the femoral head, Gi... |
OMIM:607014 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger, Dextrocardia, Abnormal tricuspid valve morphology |
ORPHA:1759 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, 2-3 toe syndactyly, Metaphyseal irregularity, High palate, Rhizomelia, ... |
OMIM:618162 |
| Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Encephalocele, Wide mouth, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Absent nasal bridge, Toe syndactyly, Bulbous no... |
ORPHA:261211 |
| Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Genu valgum, Cleft upper lip, Capitate-hamate fusion, Short ribs, Short l... |
OMIM:225500 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Abnormal long bone morphology, Short metacarpal, Micrognathia, Bifid uvu... |
ORPHA:1427 |
| Gracile Bone Dysplasia |
|
Death in infancy, Ankyloglossia, Slender long bone, Hydrocephalus, Flared metaphysis, Brachydacty... |
OMIM:602361 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Missing ribs, Anteriorly placed anus, Proxima... |
ORPHA:1488 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... |
OMIM:250220 |
| Intellectual Disability-Strabismus Syndrome |
|
Gastroesophageal reflux, Congenital finger flexion contractures, High palate, Prominent nose, Wid... |
ORPHA:363528 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventriculomegaly, Ventricular septal defect, Bicuspid aortic valve, Shor... |
ORPHA:284169 |
| Trigonocephaly 1 |
|
Long philtrum, Wide nasal bridge, Long penis, Short nose, Meckel diverticulum, High, narrow palate |
OMIM:190440 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Aplasia/Hypoplasia... |
OMIM:192445 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, High palate, Acroosteolysis of distal phalanges (feet), Narrow nasal rid... |
OMIM:608612 |
| Tetrasomy 5P |
|
High palate, Long philtrum, Wide nasal bridge, Micrognathia, Hydrocephalus, Clinodactyly of the 5... |
ORPHA:3309 |
| Craniofacioskeletal Syndrome |
|
Hydronephrosis, Short foot, Hypoplastic frontal sinuses, Small hand, Ventricular septal defect, M... |
OMIM:300712 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Choanal stenosis, High palate, Palmoplantar cutis laxa, Narrow palate, Natal tooth, Prominent nas... |
OMIM:123790 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,... |
OMIM:180700 |
| Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Polydactyly, Wide nasal bridge, Delayed eruption of teeth, Joint contr... |
OMIM:247200 |
| Meier-Gorlin Syndrome 5 |
|
Gastroesophageal reflux, Patellar aplasia, Long philtrum, Micrognathia, Slender long bone, Clinod... |
OMIM:613805 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Clinodactyly, Prominent nasolabial fold, Short nose, Downturned corners of mouth, Single transver... |
ORPHA:391372 |
| Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Atrial septal defect, Hypertrophic cardiomyopathy, Depre... |
OMIM:613706 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Cleft palate, Scapular winging, Talipes equinovarus, Capitate-hamate fus... |
OMIM:272460 |
| Au-Kline Syndrome |
|
Bifid tongue, Coxa valga, Ventriculomegaly, Bifid uvula, Overlapping toe, Cleft palate, Deep palm... |
OMIM:616580 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Genu valgum, Convex nasal ridge, Cleft soft palate, Hydrocephalus, Short nose, Intestinal malrota... |
OMIM:619321 |
| Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Foot polydactyly, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Nephropa... |
ORPHA:2318 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Death in infancy, Micrognathia, Short nose, Thin upper lip vermilion |
OMIM:615042 |
| Bainbridge-Ropers Syndrome |
|
Wide nasal bridge, Lateral ventricle dilatation, Micrognathia, Everted lower lip vermilion, Contr... |
OMIM:615485 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Wide mouth, Ventriculomegaly, Toe syndactyly, Foot polydactyly, Hydrocephalus,... |
ORPHA:60040 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypoplastic iliac wing, Underdeveloped nasal alae, Prominent nose, Coxa vara, Wide nasal bridge, ... |
ORPHA:2637 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, High palate, Tapered finger, Malrotation of small bowel, Long philtrum,... |
ORPHA:2953 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Wide penis, Convex nasal ridge, Dilatation of renal ... |
ORPHA:3455 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Microdontia, Hypodontia, Hydrocephalus, Short philtrum, Everted lower lip verm... |
OMIM:601499 |
| Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Abnormal large intestine morphology, Abnormal ph... |
ORPHA:90291 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal bridge, Wide mouth, Hydrocephalus, Wide nasal base, Bilateral talipes equinovarus |
OMIM:616521 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
| Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Limited elbow movement, Mitral valve prolapse, Hypertrophic cardiomy... |
OMIM:151100 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Toe syndactyly, Micrognathia, Metatarsus adductus, Spina bifida occult... |
ORPHA:235 |
| Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum |
ORPHA:899 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Micrognathia, Flared iliac wing, Epiphyseal stippling, ... |
OMIM:271665 |
| Trisomy 10P |
|
Micrognathia, Abnormal lip morphology, Camptodactyly, Dysphagia, Talipes equinovarus, Orofacial c... |
ORPHA:171929 |
| Congenital Vertical Talus |
|
Equinus calcaneus, Myelomeningocele, Rocker bottom foot |
ORPHA:178382 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Dental malocclusion, Short metacarpal, Delayed eruption of teeth, Hypodo... |
OMIM:101800 |
| Elsahy-Waters Syndrome |
|
Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Anal stenosis... |
OMIM:211380 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proximal placement o... |
ORPHA:139471 |
| Nephronophthisis 15 |
|
Nephronophthisis, Polydactyly |
OMIM:614845 |
| C Syndrome |
|
Abnormality of the anus, Toe syndactyly, Micrognathia, Dislocated radial head, Smooth philtrum, C... |
ORPHA:1308 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus |
ORPHA:2866 |
| Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Polyhydramnios, Abnormality of the upper limb, Clinodactyly of the 5... |
ORPHA:1052 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short ... |
OMIM:608940 |
| Duane Retraction Syndrome |
|
Triphalangeal thumb, Anorectal anomaly, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyl... |
ORPHA:233 |
| Williams-Beuren Region Duplication Syndrome |
|
High palate, Ventriculomegaly, Micrognathia, Hydrocephalus, Short philtrum, Unilateral renal agen... |
OMIM:609757 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Gastroesophageal reflux, Epiphyseal stippling of toe phalanges, Nasal congestion, Vertebral hypop... |
ORPHA:79345 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Macular hypoplasia, Hydrocephalus, Clinodactyly of the 5th finger, Atr... |
OMIM:147791 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Radial deviation of finger, Talipes equinovarus, Ventricular septal d... |
OMIM:301040 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Gastroesophageal reflux, Wide mouth, Micrognathia, Short nose, Thin upper lip vermilion, Smooth p... |
OMIM:615419 |
| Pettigrew Syndrome |
|
Prominent nose, Ventriculomegaly, Wide mouth, Hydrocephalus, Dandy-Walker malformation, Thick ver... |
OMIM:304340 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... |
OMIM:617412 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Micrognathia, Microdontia, Everted lower lip vermilion, Short palm, Prominent nose, Hip dysplasia... |
OMIM:156200 |
| Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Micrognathia, Hydrocephalus, Depressed nasal bridge, Single transve... |
OMIM:614219 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Un... |
ORPHA:364577 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Aqueductal stenosis, Ventricular septal defe... |
OMIM:619895 |
| Johnson Neuroectodermal Syndrome |
|
Preaxial hand polydactyly, Hand polydactyly, Everted lower lip vermilion, Anosmia, Carious teeth,... |
ORPHA:2316 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, High palate, Long philtrum, Lateral ventricle dilatation, Ventricular septa... |
ORPHA:457279 |
| Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Micrognathia, Microdontia, Clinodactyly of the 5th toe, Cl... |
ORPHA:221120 |
| Fraser Syndrome 3 |
|
Wide nose, Short toe, Ureteral agenesis, Convex nasal ridge, Micrognathia, Hydrocephalus, Hypopla... |
OMIM:617667 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Ventriculomegaly, Death in infancy, Spina bifida, Micrognathia, Organic aciduria |
ORPHA:99742 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Wide mouth, Ventriculomegaly, Missing ribs, Hand polydactyly, Hydrocephalus, C... |
ORPHA:1647 |
| Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra... |
OMIM:102500 |
| Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Pulmonic stenosis, Syndactyly, Brachydactyly, Esophageal varix, Right atria... |
OMIM:616028 |
| Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Micrognathia, Bifid uvula, Overlapping toe, Everted lower lip vermi... |
ORPHA:177907 |
| Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Gastroesophageal reflux, Ventriculomegaly, Short philtrum, Short nose, Tented upper lip vermilion |
ORPHA:85277 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Abnormal metaphysis morphology, Large iliac wing, Delayed eruption of teeth, Micrognathia, Wide n... |
ORPHA:2780 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Ventriculomegaly, Hydrocephalus, Nasal polyposis, Atrial situs amb... |
ORPHA:244 |
| Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Hydrocephalus, Anteverted nares |
ORPHA:1532 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Long philtrum, Micrognathia, Slender toe, Clinodactyly, Oligodontia, Short philtrum, D... |
ORPHA:391408 |
| Opsismodysplasia |
|
Short phalanx of finger, Renal phosphate wasting, Metaphyseal cupping, Hypoplastic pubic bone, Sh... |
OMIM:258480 |
| Opsismodysplasia |
|
Tapered finger, Hypoplastic pubic bone, Hypoplastic ischia, Hypoplastic vertebral bodies, Short n... |
ORPHA:2746 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Telangiectasia, Abnormal EKG, Hydrocephalus, Edema, Hypoplasia of the fovea, Abnorma... |
ORPHA:93400 |
| Geleophysic Dysplasia 3 |
|
Long philtrum, Wide nasal bridge, Limited elbow movement, Tracheal stenosis, Epiphyseal dysplasia... |
OMIM:617809 |
| Basal Cell Nevus Syndrome 1 |
|
Hamartomatous stomach polyps, Polydactyly, Cleft upper lip, Odontogenic keratocysts of the jaw, S... |
OMIM:109400 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Abnormal tongue physiology, Wide mouth, Hypospadias, Narrow mouth, Thin vermilion bo... |
ORPHA:544254 |
| Sponastrime Dysplasia |
|
Hip subluxation, Broad foot, Aplasia of the nasal bone, Microdontia, Flat capital femoral epiphys... |
ORPHA:93357 |
| Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Micrognathia, Mitral valve prolapse, Bifid uvula, Submucous cleft hard pal... |
OMIM:108300 |
| Kaufman Oculocerebrofacial Syndrome |
|
High palate, Ventriculomegaly, Ventricular septal defect, Micrognathia, Clinodactyly of the 5th f... |
OMIM:244450 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Ventriculomegaly, Toe syndactyly, Micrognathia, Everted ... |
ORPHA:251014 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Deep philtrum, Wide nasal bridge, Microretrognathia, Short nose, Overlapping toe, ... |
OMIM:618571 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Nephrocalcinosis, Postaxial polydactyly, Short long bone |
OMIM:615633 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Anal atresia, Intestinal malrotation, Rectovaginal fistula, Ureteral duplication, Choanal atresia |
OMIM:270420 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect, 2-3 toe cutaneous syndactyly, Broad thumb |
OMIM:617364 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Malan Syndrome |
|
Coxa valga, Ventriculomegaly, Advanced eruption of teeth, Short nose, Everted lower lip vermilion... |
OMIM:614753 |
| Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Genu valgum, Widely spaced teeth, Urinary glycosaminoglycan excretion, Hypoplasia... |
OMIM:253220 |
| Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Atrioventricular canal defect, Aplasia/Hypoplasia a... |
ORPHA:818 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, High palate, Long philtrum, Abnormality of the gastrointestinal tract, Functional ab... |
ORPHA:1340 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:453499 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate, Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the ribs, Hyp... |
OMIM:606851 |
| Hurler Syndrome |
|
Camptodactyly of finger, Endocardial fibroelastosis, Cardiomyopathy, Rhinitis, Abnormality of the... |
ORPHA:93473 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Micrognathia, Atrial septal defect, Short nose, Accessory oral frenulu... |
ORPHA:79113 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis, Open mouth, Broad nasal tip, Short nose |
OMIM:613670 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Wide mouth, Abnormal cardiac septum morphology, Pericardial effusion, Polycystic k... |
OMIM:608776 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Anencephaly, Hydrocephalus, Postaxial foot polydactyly, Renal cyst, Horseshoe ki... |
OMIM:612284 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Renal cyst, Postaxial hand polydactyly,... |
OMIM:611561 |
| Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Ventriculomegaly, Pyloric stenosis, Hydrocephalus, Congenital hip dislocation, Open mouth |
OMIM:616355 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the thumb, Holoprosencephaly, Semilobar holoprosencephaly,... |
ORPHA:556955 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Fraser Syndrome 1 |
|
Abnormality of the anus, Midline nasal groove, Wide nasal bridge, Cleft palate, Hydrocephalus, Ap... |
OMIM:219000 |
| Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Absent thumb, Microphallus, 2-3 finger syndactyly, Hypoplasia of the radiu... |
OMIM:603467 |
| Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Elbow dislocation, Talipes equinovalgus, Spina bifida occulta,... |
OMIM:150250 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Gastroesophageal reflux, High palate, Long philtrum, Narrow nasal ridge, Hydrocephalus, Congenita... |
OMIM:612940 |
| Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Situs inversus totalis, Unbalanced atrioventricular canal defect, ... |
OMIM:618300 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal nostril morphology, Finger syndactyly, Long philtrum, Wide nasa... |
ORPHA:178303 |
| Diencephalic Syndrome |
|
Everted lower lip vermilion, Large hands, Hydrocephalus, Long penis |
ORPHA:1672 |
| Diabetic Embryopathy |
|
Hydronephrosis, Spinal dysraphism, Ventricular septal defect, Micrognathia, Hydrocephalus, Cleft ... |
ORPHA:1926 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Triphalangeal thumb, Absent thumb, Cleft upper lip, High palate, Hypoplastic il... |
OMIM:105650 |
| Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Gastroesophageal reflux, High palate, Tapered finger, Wide nasal bridg... |
OMIM:615803 |
| 3Q29 Microdeletion Syndrome |
|
Subvalvular aortic stenosis, Gastroesophageal reflux, High palate, Tapered finger, Clinodactyly o... |
ORPHA:65286 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, Camptodactyly, Broad hallux, Smooth philtrum, Cleft palate, Choanal atresia, Vent... |
OMIM:301044 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Long philtrum, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares |
OMIM:616430 |
| Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, Hydronephrosis, Preaxial hand polydactyly, High palate, Multicystic kidney... |
ORPHA:1297 |
| Coffin-Lowry Syndrome |
|
Coxa valga, Tapered finger, Ventriculomegaly, Everted lower lip vermilion, Broad columella, Thick... |
OMIM:303600 |
| Kniest Dysplasia |
|
Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Rhizomelia, Hip contracture,... |
OMIM:156550 |
| Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Ana... |
ORPHA:411709 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Wide nasal bridge, Micrognathia, Bifid uvula, Overlapping toe, Contractu... |
ORPHA:314585 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Hallux valgus, Ventriculomegaly, Microdontia, Slender finger, Gingival overg... |
OMIM:602535 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ventriculomegaly, Hepatoblastoma, Thickened cortex of long bones, Postaxial hand polydactyly, Tal... |
OMIM:269150 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Metatarsus adductus, Cleft palate, Multicysti... |
ORPHA:2461 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Submucous cleft hard palate, Cleft palate |
ORPHA:2521 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Slender long bone, Short nose, Spina bifida occulta, Downturned corners of mouth, Anteverted nare... |
ORPHA:1185 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microdontia, Narrow pelvis bone, Limited elbow extension, Pseudoepiphyses of the metacarpals, Hyp... |
OMIM:210720 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
High palate, Wide mouth, Slender long bone, Hydrocephalus, Short nose, Thin upper lip vermilion, ... |
OMIM:618590 |
| Frontometaphyseal Dysplasia |
|
Short diaphyses, Camptodactyly of finger, Short phalanx of finger, Wrist flexion contracture, Wid... |
ORPHA:1826 |
| Van Maldergem Syndrome 2 |
|
Hip subluxation, Irregular dentition, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Shor... |
OMIM:615546 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Mitral re... |
OMIM:603387 |
| Crane-Heise Syndrome |
|
Aplastic clavicle, Finger syndactyly, Ventriculomegaly, Toe syndactyly, Micrognathia, Hypoplasia ... |
ORPHA:1512 |
| Subependymal Nodular Heterotopia |
|
Meningocele, Myelomeningocele, Partial agenesis of the corpus callosum, Occipital encephalocele, ... |
ORPHA:101030 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
High palate, Wide nasal bridge, Aganglionic megacolon, Micrognathia, Bifid uvula, Hip dysplasia, ... |
ORPHA:247262 |
| Septooptic Dysplasia |
|
Polydactyly, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:182230 |
| Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Microphallus, Micrognathia, Clinodactyly of the 5th finger, Small ... |
ORPHA:397590 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Enterocolitis, Jejunal atresia, Death in childhood, Death in infancy, Ventricu... |
OMIM:243150 |
| Teebi Hypertelorism Syndrome 1 |
|
Long philtrum, Small hand, Natal tooth, Wide nasal bridge, Micrognathia, Ventricular septal defec... |
OMIM:145420 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Microdontia, Bifid uvula, Hip dislocation, Campt... |
OMIM:613458 |
| Gorlin Syndrome |
|
Palmar pits, Arachnodactyly, Plantar pits, Wide nasal bridge, Hydrocephalus, Brachydactyly, Cario... |
ORPHA:377 |
| Dyskeratosis Congenita, X-Linked |
|
Esophageal stricture, Phimosis, Hypospadias, Urethral stenosis, Oral leukoplakia, Premature loss ... |
OMIM:305000 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Short long bone, Micrognathia, Delayed ossification of carpal bones, Flar... |
ORPHA:93346 |
| Plaa-Associated Neurodevelopmental Disorder |
|
High palate, Long philtrum, Hyperextensibility of the finger joints, Ventriculomegaly, Impaired o... |
ORPHA:521426 |
| Achondrogenesis, Type Ii |
|
Hypoplastic iliac wing, Short tubular bones of the hand, Long philtrum, Short ribs, Abnormal foot... |
OMIM:200610 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Gastroesophageal reflux, Urinary incontinence, Palmoplantar cutis laxa, Rhizomelia, Hydrocephalus... |
OMIM:616482 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Pallister-Killian Syndrome |
|
Short phalanx of finger, Broad foot, Ventriculomegaly, Wide nasal bridge, Delayed eruption of tee... |
OMIM:601803 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, High palate, Deep philtrum, Micrognathia, Short nose, Depressed nasal bridge, Abnorm... |
ORPHA:314655 |
| Xylt1-Cdg |
|
Coxa valga, Short femoral neck, Long philtrum, Short long bone, Clinodactyly, Flared metaphysis, ... |
ORPHA:370930 |
| Kleeblattschaedel |
|
Elbow ankylosis, Hydrocephalus |
OMIM:148800 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Hydrocephalus, Abnormal heart morphology, Bulbous nose, Colpocephaly |
ORPHA:2185 |
| Hajdu-Cheney Syndrome |
|
Patellar dislocation, Wide nasal bridge, Micrognathia, Thin vermilion border, Cleft palate, Short... |
ORPHA:955 |
| Ring Chromosome 7 Syndrome |
|
Short 5th finger, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Holoprosencephaly, Slender fi... |
ORPHA:1449 |
| Monosomy 18Q |
|
Tapered finger, Secundum atrial septal defect, Talipes equinovarus, Prominent nose, Absence of th... |
ORPHA:1600 |
| Nablus Mask-Like Facial Syndrome |
|
High palate, Tapered finger, Long philtrum, Wide nasal bridge, Joint contracture of the hand, Cli... |
OMIM:608156 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Vesicoureteral reflux, Clinodactyly of the 5th finger, Short nose, Depressed nasal bridge, Smooth... |
OMIM:618828 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Lethal Congenital Contracture Syndrome 10 |
|
Convex nasal ridge, High palate, Narrow palate, Long philtrum, Short long bone, Ventricular septa... |
OMIM:617022 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Broad foot, Wide nasal bridge, Toe syndactyly, Hepatoblastoma, Postaxial... |
ORPHA:373 |
| Distal Monosomy 9P |
|
Wide nasal bridge, Short nose, Hypospadias, Brachydactyly, Cleft palate, High, narrow palate, Abn... |
ORPHA:1642 |
| Zttk Syndrome |
|
High palate, Small hand, Wide nasal bridge, Ventriculomegaly, Ventricular septal defect, Bifid uv... |
OMIM:617140 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Ventriculomegaly, Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Spina bifida ... |
OMIM:151050 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Tapered finger, Cleft soft palate, Hallux valgus, Ventriculomegaly, Dysphagia, Ventr... |
ORPHA:268261 |
| Lathosterolosis |
|
Meningocele, High palate, Long philtrum, Toe syndactyly, Micrognathia, Hypoplasia of penis, Posta... |
ORPHA:46059 |
| Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Bifid tongue, Wide nasal bridge, Micrognathia, Hip dislocati... |
ORPHA:3107 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Wide nasal bridge, Cutaneous finger syndactyly, Abnormal cardiac septu... |
OMIM:613026 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Intestinal atresia, Tracheal stenosis, Abnormal cardiac septum morphology |
ORPHA:93941 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Rhizomelia, Hypoplastic... |
OMIM:151210 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Rhizomelia, Ventricular septal defect, Micrognathia, Clinodactyly, C... |
OMIM:614114 |
| Blomstrand Lethal Chondrodysplasia |
|
Metaphyseal cupping, Aplastic clavicle, Rhizomelia, Short metacarpal, Short ribs, Long philtrum, ... |
ORPHA:50945 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Holoprosencep... |
ORPHA:1587 |
| Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Short lingual frenulum, Everted lower lip vermilion, Smoo... |
OMIM:601358 |
| Joubert Syndrome 37 |
|
Wide nose, High palate, Wide nasal bridge, Anteverted nares, Micropenis, Postaxial polydactyly, H... |
OMIM:619185 |
| Fanconi Anemia, Complementation Group P |
|
Absent thumb, Hypoplasia of the radius, Micrognathia, Bulbous nose, Pelvic kidney, Horseshoe kidn... |
OMIM:613951 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Abnormal metaphysis morphology, Limb undergrowth, Depressed nasal ridge, Communicating hydrocephalus |
ORPHA:1861 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Renal cortical cysts, Ventriculomegaly, Lateral ventricle d... |
ORPHA:397715 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tapered finger, Clinodactyly of the 5th finger, Bulbous nose, Short nose, Thin upper lip vermilio... |
OMIM:618430 |
| 19P13.13 Microdeletion Syndrome |
|
High palate, Functional abnormality of the gastrointestinal tract, Clinodactyly, Macroglossia, Pe... |
ORPHA:357001 |
| Desmosterolosis |
|
Rhizomelia, Bilateral talipes equinovarus, Joint contracture of the hand, Ventriculomegaly, Micro... |
OMIM:602398 |
| Achondrogenesis |
|
Long philtrum, Micrognathia, Short nose, Anteverted nares, Micromelia, Umbilical hernia |
ORPHA:932 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Anophthalmia, Talipes equinovarus, Ulnar deviation of finger, Aniridia, ... |
ORPHA:1101 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Limited elbow extension, Coxa vara, Rhizomelia... |
OMIM:271510 |
| Alg9-Cdg |
|
Convex nasal ridge, Pericardial effusion, Micrognathia, Abnormal left ventricular outflow tract m... |
ORPHA:79328 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Ventricular septal defect, Renal corticomedullary cysts, Hydrocephalus, Renal i... |
OMIM:219730 |
| Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Wide nasal bridge, Micrognathia, Bifid uvula, Hip dislocatio... |
OMIM:270400 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Stage 5 chronic kidney disease, Short long bone |
OMIM:613819 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Moebius Syndrome |
|
Micrognathia, Microdontia, Everted lower lip vermilion, Tooth agenesis, Dysphagia, Cleft palate, ... |
ORPHA:570 |
| Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... |
OMIM:610797 |
| Joubert Syndrome 7 |
|
Genu valgum, Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Postaxial hand polydactyl... |
OMIM:611560 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, High palate, Narrow palate, Wide mouth, Deep philtrum, Pollakisuria, Camptod... |
OMIM:227330 |
| Peho Syndrome |
|
Pedal edema, Tapered finger, Ventriculomegaly, Hydrocephalus, Abnormal upper lip morphology, Shor... |
ORPHA:2836 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, V... |
OMIM:610442 |
| 20Q11.2 Microduplication Syndrome |
|
Short foot, Wide nasal bridge, Abnormal nasal bridge morphology, Clinodactyly of the 5th finger, ... |
ORPHA:363659 |
| Kleefstra Syndrome |
|
Ventriculomegaly, Delayed eruption of teeth, Everted lower lip vermilion, Talipes equinovarus, Ve... |
ORPHA:261494 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Genu valgum, Metaphyseal irregularity, Bulging epiphyses, Rickets of the lower limbs,... |
OMIM:600785 |
| Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Toe syndactyly, Spina bifida occulta, Postaxial ha... |
OMIM:305600 |
| Warburg Micro Syndrome 3 |
|
Ankle clonus, Narrow palate, Ventriculomegaly, Micrognathia, Clinodactyly of the 5th finger, Shor... |
OMIM:614222 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Genu valgum, High palate, Long philtrum, Hypoplastic frontal sinuses, ... |
ORPHA:560 |
| Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Decreased palmar creases, Ventriculomegaly, Elbow flexion contracture, Short nose, Contracture of... |
OMIM:612394 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Ventriculomegaly, Wide nasal bridge, Lateral ventricle dilatation, M... |
OMIM:615873 |
| Tetrasomy 18P |
|
Achalasia, Long philtrum, Short nose, Narrow mouth, Thin vermilion border, Large hands |
ORPHA:3307 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Broad foot, Metaphyseal irregularity, Genu valgum, Metaphyseal dysplasia, Short foot, Genu varum,... |
OMIM:250420 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Ventriculomegaly, Micrognathia, Hydrocephalus, Anal atresia, Meningoencephalocel... |
OMIM:236670 |
| Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Convex nasal ridge, Ulnar deviation of the hand or of fingers of the han... |
OMIM:600383 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
High palate, Long philtrum, Ventriculomegaly, Micrognathia, Palmoplantar hyperhidrosis, Short nos... |
OMIM:617527 |
| Myhre Syndrome |
|
Abnormal metaphysis morphology, Large iliac wing, Gingival cleft, Abnormal cardiac septum morphol... |
ORPHA:2588 |
| Currarino Syndrome |
|
Vesicoureteral reflux, Anal fistula, Urinary incontinence, Perianal abscess, Absence of the sacru... |
OMIM:176450 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High palate, Narrow nasal ridge, Hyperextensibility of the finger joints, Prominent nasal bridge,... |
OMIM:616914 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Hypospadias, Horses... |
OMIM:218350 |
| Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Hypertrophic cardiomyopathy, Deep palmar crease, Hyperextensibility of the finger j... |
OMIM:115150 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Patellar dislocation, Rhizomelia, Ventriculomegaly, Epiphyseal stippling, Hemiatrophy, Dandy-Walk... |
OMIM:302960 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Long philtrum, Short nose, Downturned corners of mouth, Narrow mouth, Thin... |
ORPHA:1906 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Finger syndactyly, Wide nasal bridge, Delayed eruption of t... |
ORPHA:1071 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip, Absent radius |
OMIM:179400 |
| Arachnoid Cyst |
|
Subarachnoid hemorrhage, Holoprosencephaly, Hydrocephalus, Encephalocele |
ORPHA:2356 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Underdeveloped nasal alae, Extra-axial cerebrospinal fluid accumulation, High palate, Micrognathi... |
OMIM:619005 |
| Dextrocardia |
|
Abnormal foot morphology, Hydrocephalus, Intestinal malrotation, Congenital hip dislocation, Meck... |
ORPHA:1666 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Bifid uvula, Abnormal metaphysis morphology, Cleft palate, Short palm, Choanal atresia, Abnormal ... |
ORPHA:2658 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Tapered finger, Ventriculomegaly, Wide nasal bridge, Aganglionic megacolon, Hydrocephalus, Short ... |
OMIM:613603 |
| Keutel Syndrome |
|
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Recurrent sinusitis, Depressed n... |
ORPHA:85202 |
| Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Ventricular hypertrophy, Cleft upper lip, Ventricular septal defect, Microgn... |
OMIM:612561 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
High palate, Finger syndactyly, Long philtrum, Wide mouth, Deep philtrum, Micrognathia, Clinodact... |
ORPHA:1974 |
| Cornelia De Lange Syndrome |
|
Ventriculomegaly, Delayed eruption of teeth, Toe syndactyly, Micrognathia, Hip dislocation, Elbow... |
ORPHA:199 |
| Alexander Disease |
|
Death in infancy, Hydrocephalus, Death in adolescence, Increased CSF protein concentration, Death... |
OMIM:203450 |
| Diaphanospondylodysostosis |
|
Depressed nasal ridge, Micrognathia, Enlarged kidney, Missing ribs, Narrow pelvis bone, Cystic re... |
OMIM:608022 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, R... |
OMIM:615986 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
| Meier-Gorlin Syndrome 6 |
|
Underdeveloped nasal alae, Gastroesophageal reflux, Patellar aplasia, Depressed nasal ridge, Hip ... |
OMIM:616835 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Thin upper lip vermilion, Smooth philtrum, Brachyda... |
ORPHA:313781 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Hydrocephalus |
OMIM:619470 |
| Aspergillosis |
|
Abnormal long bone morphology, Abnormal esophagus morphology, Nasal congestion |
ORPHA:1163 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Ectopic anus, Neurogenic bladder, Missing ribs, Hydrocephalus, Spina bifida occ... |
OMIM:613686 |
| Kabuki Syndrome |
|
Lip pit, Short 5th finger, Ventriculomegaly, Abnormal cardiac septum morphology, Microdontia, Hip... |
ORPHA:2322 |
| Mend Syndrome |
|
2-3 toe syndactyly, High palate, Abnormal nasal bridge morphology, Micrognathia, Hydrocephalus, H... |
ORPHA:401973 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Rhizomelia... |
OMIM:618019 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Patellar dislocation, Hallux valgus, Micrognathia, Elbow flexion contracture, Flat capital femora... |
ORPHA:536471 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Postaxial foot polydactyly |
OMIM:617119 |
| Okamoto Syndrome |
|
Polydactyly, Wide nasal bridge, Exaggerated median tongue furrow, Cleft palate, Ventricular septa... |
ORPHA:2729 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Gastroesophageal reflux, Hydronephrosis, Death in infancy, Neurogenic bladder, Microgn... |
OMIM:608779 |
| Schinzel-Giedion Syndrome |
|
Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Camptodactyly, Hepatoblastoma, Overlap... |
ORPHA:798 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Gastroesophageal reflux, Genu valgum, Dental malocclusion, High palate, Narrow palate, Joint cont... |
OMIM:182212 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Short long bone, Central vertebral hypo... |
ORPHA:93352 |
| Orofacial Cleft 13 |
|
Micrognathia, Oligodontia, Cleft soft palate |
OMIM:613857 |
| Jeune Syndrome |
|
Toe syndactyly, Abnormal pelvic girdle bone morphology, Postaxial foot polydactyly, Brachydactyly... |
ORPHA:474 |
| Craniosynostosis 2 |
|
Triphalangeal thumb, Supernumerary tooth, Cleft soft palate, Brachydactyly |
OMIM:604757 |
| Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, High palate, Mitral valve prolapse, Tracheoesophageal fistula, Intestina... |
ORPHA:115 |
| Coffin-Siris Syndrome |
|
Short 5th finger, Delayed eruption of teeth, Hepatoblastoma, Thick nasal alae, Ventricular septal... |
ORPHA:1465 |
| Fanconi Anemia, Complementation Group U |
|
Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, Ectopic kidney, Absent sca... |
OMIM:617247 |
| Charge Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Aqueductal stenosis, Abnormal cardiac septum morphology... |
ORPHA:138 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Short nose, Intestinal malrotation, Depressed nasal bridge, Proteinuri... |
ORPHA:2143 |
| Hartsfield Syndrome |
|
Gonadotropin deficiency, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosenc... |
OMIM:615465 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Dilated cardiomyopathy, Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
| Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
| Hydrocephalus, Congenital, X-Linked |
|
Adducted thumb, Contracture of thumb, Hydrocephalus, Aqueductal stenosis |
OMIM:307000 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Patent foramen ovale, Long philtrum, Wide nasal bri... |
OMIM:619179 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, High palate, Crossed fused renal ectopia, Micrognathia, Hydrocep... |
OMIM:300960 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Delayed eruption of teeth, Flared iliac wing, Hypoplastic iliac wing, Gen... |
OMIM:253200 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Choanal stenosis, Metaphyseal cupping, Hip contracture, Short ribs, Sho... |
OMIM:156400 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Narrow palate, Hydrocephalus, Anteriorly placed anus, Depressed nasal bridge, Narrow mouth, Tooth... |
ORPHA:1555 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Tapered finger, Finger joint hypermobility, Hip dysplasia, Hypodontia, Edema of the dorsum of fee... |
ORPHA:544503 |
| Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Micrognathia, Microdontia, Atrial septal defect, Short nose, Thin upper li... |
ORPHA:1915 |
| Aymé-Gripp Syndrome |
|
Tapered finger, Long philtrum, Ventriculomegaly, Pericardial effusion, Oligodontia, Hydrocephalus... |
ORPHA:1272 |
| Benign Schwannoma |
|
Abnormal parotid gland morphology, Nasal polyposis, Intestinal polyposis, Abnormal esophagus morp... |
ORPHA:252164 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Spinal dysraphism, Absence of the sacrum, Mitral stenosis, Bifid uvula, Su... |
OMIM:617660 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Exencephaly, Encephalocele, Finger syndactyly, Broad thumb, Broad hall... |
ORPHA:2211 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Polydactyly, Micropenis |
OMIM:614464 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Short philtrum, Short nose, Everted lower lip vermilion, Thin upper lip vermilion |
ORPHA:2429 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Gastroesophageal reflux, Micrognathia, Talipes equinovarus, Camptodactyly, 3-4 finger cutaneous s... |
OMIM:620029 |
| Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... |
OMIM:193220 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Convex nasal ridge, Short long bone, Micrognathia, Polycystic kidney d... |
OMIM:263210 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Long philtrum, Short nose, Smooth philtrum, Arachnodactyly, Anteverted nares, Thin vermilion bord... |
OMIM:616420 |
| Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Arachnodactyly, Coxa valga, Avascular necrosis of the capital femoral ep... |
ORPHA:3342 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Ventriculomegaly, Wide nasal... |
ORPHA:508498 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Dermatan sulfate excre... |
OMIM:309900 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Pes cavus, Short nose |
OMIM:245570 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Anophthalmia, Hypoplasti... |
OMIM:601186 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Coxa valga, Hallux valgus, Advanced ossification of carpal bones, Large iliac wi... |
OMIM:271640 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
High palate, Wide nasal bridge, Hip dislocation, Atrial septal defect, Short nose, Limb undergrow... |
OMIM:618005 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
| Harel-Yoon Syndrome |
|
Micrognathia, Hip dysplasia, Short nose, Talipes equinovalgus, Hypertrophic cardiomyopathy |
OMIM:617183 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Short long bone, Micrognathia, Narrow mouth, Micromelia, Occipital encephaloce... |
OMIM:224410 |
| Geleophysic Dysplasia 2 |
|
Short foot, Long philtrum, Mitral stenosis, Mitral valve prolapse, Short nose, Thin upper lip ver... |
OMIM:614185 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Enuresis nocturna, Submucous cleft hard palate, Thin upper lip vermilion, Downtur... |
OMIM:619680 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Hydrocephalus, Macroglossia, Calf muscle hypertrophy |
OMIM:613155 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,... |
OMIM:603543 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Short 5th finger, Abnormality of the anus, Wide nasal bridge, Lateral ve... |
OMIM:607872 |
| Toluene Embryopathy |
|
Tapered finger, Micrognathia, Short nose, Smooth philtrum, Thin vermilion border, Hydronephrosis |
ORPHA:1920 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Underdeveloped nasal alae, Gastroesophageal reflux, Urinary incontinence, Short digit, Clinodacty... |
OMIM:300912 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Joubert Syndrome 2 |
|
High palate, Encephalocele, Abnormal foot morphology, Hydrocephalus, Postaxial foot polydactyly, ... |
OMIM:608091 |
| Peho Syndrome |
|
Tapered finger, Edema of the dorsum of feet, Short nose, Tented upper lip vermilion, Open mouth |
OMIM:260565 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Volvulus, Micrognathia, Short nose, Depressed nasal bridge, Ankle flexion contractur... |
OMIM:617802 |
| Multiple Sulfatase Deficiency |
|
Hydrocephalus, Depressed nasal bridge, Broad thumb, Mucopolysacchariduria, Smooth philtrum, Antev... |
ORPHA:585 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Micrognathia, Microdontia, Talipes equinovarus, Dentinogenesis imperfecta, Slender... |
ORPHA:536467 |
| Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus, Death in infancy |
OMIM:619302 |
| Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Hypertension, Dehydration |
ORPHA:2260 |
| Distal Tetrasomy 15Q |
|
High palate, Micrognathia, Polycystic kidney dysplasia, Hydrocephalus, Camptodactyly, Atrial sept... |
ORPHA:314588 |
| Diamond-Blackfan Anemia 21 |
|
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Micrognathia, H... |
OMIM:620072 |
| Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Aplasia/Hypoplasia of the tongue, Death in infancy, Bifid uvula, Tracheal steno... |
ORPHA:1790 |
| Johanson-Blizzard Syndrome |
|
Underdeveloped nasal alae, Convex nasal ridge, Colonic diverticula, Ventricular septal defect, Ma... |
OMIM:243800 |
| Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Ventriculomegaly, Colpocephaly, Micrognathia, Clinod... |
OMIM:618460 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... |
ORPHA:2092 |
| Aicardi-Goutieres Syndrome 4 |
|
Convex nasal ridge, Ventriculomegaly, Hydrocephalus, CSF lymphocytic pleiocytosis, Death in child... |
OMIM:610333 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Polydactyly, Stage 5 chronic kidney disease, Hypoplasia of the femo... |
OMIM:616629 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Orofacial cleft |
ORPHA:324416 |
| Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Absent thumb, Abnormality of the upper limb, High palate, Adenocarcinoma of ... |
ORPHA:124 |
| Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Ventricular septal defect, Short nose, Intestin... |
OMIM:222448 |
| Nijmegen Breakage Syndrome |
|
Non-midline cleft lip, Anorectal anomaly, Convex nasal ridge, Prominent nose, Pollakisuria, Deep ... |
ORPHA:647 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Grade II vesicoureteral reflux, Avascular necrosis of the capital femo... |
OMIM:619377 |
| Branchioskeletogenital Syndrome |
|
Bifid uvula, Amelia involving the lower limbs, Premature loss of teeth, Rootless teeth, Carious t... |
ORPHA:1299 |
| Wolf-Hirschhorn Syndrome |
|
Convex nasal ridge, Ventriculomegaly, Wide nasal bridge, Micrognathia, Hip dislocation, Metatarsu... |
OMIM:194190 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular s... |
ORPHA:99776 |
| Degcags Syndrome |
|
Polydactyly, Ventriculomegaly, Toe syndactyly, Micrognathia, Smooth philtrum, Intestinal atresia,... |
OMIM:619488 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Thick upper lip vermilion, High palate, Ventriculomegaly, Deep philtrum, Wide nasal bridge, Micro... |
OMIM:614969 |
| Fountain Syndrome |
|
Large hands, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Plasminogen Deficiency, Type I |
|
Gingivitis, Duodenal ulcer, Periodontitis, Ventriculomegaly, Hydrocephalus, Nephritis, Recurrent ... |
OMIM:217090 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Phocomelia, Duodenal atresia, Split hand |
ORPHA:3004 |
| Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Esophageal stricture, Esophageal ulceration, Phimosis, Hematuria, Abnorm... |
ORPHA:99921 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Gastroesophageal reflux, Widely spaced teeth, Advanced eruption of teeth, Short nose, Everted low... |
OMIM:617865 |
| 14Q22Q23 Microdeletion Syndrome |
|
Anterior pituitary hypoplasia, Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syn... |
ORPHA:264200 |
| Premature Aging Syndrome, Penttinen Type |
|
Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption of teeth, Micrognathia, Slender l... |
OMIM:601812 |
| Joubert Syndrome 20 |
|
Renal cyst, Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Holoprosencephaly 2 |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Holoprosencephaly, Microphthalmia, Single ... |
OMIM:157170 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Long philtrum, Short nose |
OMIM:125700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Micrognathia, Macroglossia, Short nose, Depressed nasal bridge, Protruding tongue,... |
OMIM:242860 |
| Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Hypoplastic ilia, Short long bone, Short ribs, Delayed proximal femoral ep... |
ORPHA:93296 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Genu valgum, Ventriculomegaly, Micrognathia, Mi... |
ORPHA:2462 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hip subluxation, Gastroesophageal reflux, Patent foramen ovale, High palate, Long philtrum, Wide ... |
OMIM:613457 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... |
ORPHA:1330 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Limited elbow extension, Abnormality of the ankle, Genu valgum, Recurrent... |
ORPHA:239 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Tapered finger, Cleft soft palate, Wide nasal bridge, Microdontia, Broad columella, Smooth philtr... |
OMIM:619950 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge, Hydrocephalus, Pes planus |
OMIM:618302 |
| Chops Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Patent foramen ovale, Long philtrum, Ventricular ... |
OMIM:616368 |
| Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Tapered finger, Ventriculomegaly, Micrognathia, Camptodactyly, Overlapping toe, Short nose, Narro... |
OMIM:309590 |
| Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... |
OMIM:223800 |
| Bronchogenic Cyst |
|
Abnormal pericardium morphology, Abnormal stomach morphology, Abnormal esophagus morphology, Dysp... |
ORPHA:2357 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Long philtrum, Dandy-Walker malformation, Short nose, Congenital hip dislocation, Na... |
OMIM:219200 |
| Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Short foot, Small hand, Delayed eruption of teeth, Forearm reduction defects, Microg... |
OMIM:268400 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Bifid uvula, Abnormal distal pha... |
ORPHA:2636 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Abnormality of the anus, Wide nasal bridge, Ventriculomegaly, Abnormal c... |
ORPHA:1606 |
| Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Ventricular septal defect, Abnormal stom... |
ORPHA:141127 |
| Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Camptod... |
OMIM:619123 |
| Multiple Sulfatase Deficiency |
|
Ventriculomegaly, Hydrocephalus, Hypoplastic vertebral bodies, Broad hallux, Broad thumb, Mucopol... |
OMIM:272200 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Broad hallux, 2-3 toe cutaneous syndactyly, Contracture of the proximal inter... |
OMIM:300166 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Coxa valga, Hip dislocation, Ventriculomegaly |
OMIM:109120 |
| Arima Syndrome |
|
Dilated fourth ventricle, Wide mouth, Stage 5 chronic kidney disease, Renal sodium wasting, Polyc... |
OMIM:243910 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
| Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Micrognathia, Secundum atrial septal defect, Camptodactyly, Metatarsus a... |
OMIM:249420 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus |
OMIM:304100 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Erlenmeyer flask deformity of the femurs, Hydrocephalus, Diaphyseal sclerosis, ... |
OMIM:618476 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Aminoaciduria, Long philtrum, Thick vermilion border |
ORPHA:833 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Pes cavus, Preaxial polydactyly |
ORPHA:163681 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand, Micropenis |
OMIM:245800 |
| Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Ventricular septal defect, Radiou... |
ORPHA:2876 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... |
OMIM:307800 |
| Joubert Syndrome 40 |
|
Depressed nasal bridge, Postaxial polydactyly |
OMIM:619582 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Epispadias, Short nose, Abnormality of the ureter, Hypospadias, Anteverted... |
ORPHA:3339 |
| Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Encephalocele, Depressed nasal ridge, Short nose, Dimple on nasal tip, Dep... |
ORPHA:1791 |
| Kniest Dysplasia |
|
Dumbbell-shaped long bone, Pierre-Robin sequence, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Gastroesophageal reflux, High palate, Long philtrum, Short metacarpal, Wide nasal bridge, Narrow ... |
OMIM:617157 |
| Holoprosencephaly 3 |
|
Central diabetes insipidus, Holoprosencephaly |
OMIM:142945 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Genu valgum, Hydrocephalus, Diaphyseal sclerosis, Persistence of primary teeth, Chronic rhinitis ... |
OMIM:259710 |
| Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta... |
OMIM:258850 |
| H Syndrome |
|
Cleft upper lip, Hallux valgus, Malabsorption, Enlarged kidney, Hydrocephalus, Camptodactyly, Rec... |
ORPHA:168569 |
| Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Microdontia, Hypodontia, Everted lower lip vermilion, Depressed nasal bridge, ... |
ORPHA:782 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Left ventricular noncompaction, Submucous cleft soft palate, Synostosis of the pro... |
OMIM:300967 |
| Waardenburg Syndrome Type 1 |
|
Underdeveloped nasal alae, Meningocele, Cleft upper lip, Wide nasal bridge, Spina bifida, Agangli... |
ORPHA:894 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue, Abnormal heart morphology, Anteverted nares, Short nose |
DECIPHER:52 |
| Ctcf-Related Neurodevelopmental Disorder |
|
2-3 toe syndactyly, Ventriculomegaly, Microdontia, Cleft palate, Atrial septal defect, Short nose... |
ORPHA:363611 |
| Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
| Lumbar Syndrome |
|
Vesicoureteral reflux, Myelomeningocele, Ectopic anus, Spina bifida, Anal atresia, Hypospadias, B... |
ORPHA:83628 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Myelomeningocele, Pulmonic s... |
OMIM:620141 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Tapered finger, Long philtrum, Camptodactyly, Short nose, Thin upper lip vermilion, Depressed nas... |
OMIM:601353 |
| Duplication Of Urethra |
|
Anorectal anomaly, Anal fistula, Vesicoureteral reflux, Penile hypospadias, Urinary incontinence,... |
ORPHA:237 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Partial atrioventricular canal defect, Primum atrial septal defect |
OMIM:619608 |
| Non-Syndromic Anorectal Malformation |
|
Anorectal anomaly, Myelomeningocele, Ectopic anus, Persistent cloaca, Anal atresia, Hypospadias, ... |
ORPHA:557 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hypoplastic colon, Cystic renal dysplasia, Short nose, Micromelia, Postaxial han... |
OMIM:200995 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Long philtrum, Wide nasal bridge, Ventricular septal defect, Advanc... |
ORPHA:1519 |
| Tetrasomy 9P |
|
Convex nasal ridge, Abnormal cardiac septum morphology, Micrognathia, Bifid uvula, Pericarditis, ... |
ORPHA:3310 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Hallux valgus, Narrow nasal tip, Ventriculomegaly, Toe syndactyly, Duodenal atresia,... |
ORPHA:464306 |
| Holoprosencephaly 4 |
|
Semilobar holoprosencephaly |
OMIM:142946 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Micrognathia, Hydrocephalus, Hydranencephaly, Talipes, Cleft palate, Dandy-Walk... |
OMIM:225790 |
| Icf Syndrome |
|
Malabsorption, Micrognathia, Communicating hydrocephalus, Macroglossia, Depressed nasal bridge, P... |
ORPHA:2268 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Metaphyseal irregularity, Proximal tubulopathy, Bulging epiphyses, Tibia... |
OMIM:300554 |
| 16P13.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Dilated third ventricle, Small hand, Ventriculomegaly, Hip dysplasia, Hy... |
ORPHA:500055 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Duodenal atresia, Intestinal atresia, Ventricular septal defect |
ORPHA:3405 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Ventriculomegaly, Cleft palate, Talipes equinovarus, Abnormal duodenum morphology, Atrial septal ... |
OMIM:601776 |
| Lathosterolosis |
|
Thick upper lip vermilion, High palate, Long philtrum, Wide nasal bridge, Myelomeningocele, Toe s... |
OMIM:607330 |
| Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Toe syndactyly, Micrognathia, Microdontia, Bifid uvula, Dysphagia, Abnormal dental ... |
ORPHA:2363 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormal mitral valve morphology, Abnormality of the gastroin... |
ORPHA:1876 |
| Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Anal atresia, Spina bifida occulta, Hypospadi... |
OMIM:617466 |
| Diaphanospondylodysostosis |
|
Narrow pelvis bone, Myelomeningocele |
ORPHA:66637 |
| Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Plantar pits, Long philtrum, Delaye... |
ORPHA:77301 |
| Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, High palate, Hip contracture, Long philtrum, ... |
OMIM:208150 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... |
OMIM:615237 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Micrognathia, Inflammation of the large intestine, Absent uvula, Overla... |
OMIM:619708 |
| Xp22.3 Microdeletion Syndrome |
|
Ectopic anus |
ORPHA:1643 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Knee flexion contracture, Genu valgum, Hip contracture, Wide mouth, Deep philtrum, Wide nasal bri... |
OMIM:619194 |
| Birk-Barel Syndrome |
|
High palate, Bifid uvula, Short philtrum, Microretrognathia, Submucous cleft soft palate, Single ... |
OMIM:612292 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Micrognathia, Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Long philtrum, Deep philtrum, Short nose, Everted lower lip vermilion, Broad ... |
OMIM:137550 |
| Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Convex nasal ridge, Patellar dislocation, Wide nasal bridge, Micrognathia, Flared il... |
OMIM:180849 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Vesicoureteral reflux, Ventricular septal defect, Wide mouth, Thick lower lip vermilion, Submucou... |
OMIM:619103 |
| Microphthalmia, Syndromic 1 |
|
Camptodactyly, Radial deviation of finger, Orofacial cleft, Agenesis of maxillary lateral incisor... |
OMIM:309800 |
| Dent Disease 1 |
|
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Fibular bowing, Nephrolithias... |
OMIM:300009 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Overhanging nasal tip, Vesicoureteral reflux, High palate, Dilated fourth ventricle,... |
OMIM:619869 |
| Exstrophy-Epispadias Complex |
|
Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Absent penis, Abnormality of the ... |
ORPHA:322 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Aminoaciduria, Short nose |
ORPHA:99688 |
| Alg12-Cdg |
|
Ventriculomegaly, Micrognathia, Camptodactyly, Biventricular hypertrophy, Talipes equinovarus, Pa... |
ORPHA:79324 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Tapered finger, Narrow palate, Jejunal atresia, Single transverse palmar crease, High, narrow pal... |
OMIM:612949 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Noncommunicating hydrocephalus, Micrognathia, Prominent nasal tip, Celiac diseas... |
OMIM:619325 |
| Rhyns Syndrome |
|
Short femoral neck, Short long bone, Radial bowing, Brachydactyly, Nephronophthisis, Renal insuff... |
OMIM:602152 |
| Peters-Plus Syndrome |
|
Broad foot, Ventriculomegaly, Short lingual frenulum, Micrognathia, Pes cavus, Conical incisor, S... |
OMIM:261540 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Rhizomelia, Short metacarpal, Hypop... |
ORPHA:85167 |
| Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Ventricular septal defect, Micrognathia, Velopharyngeal insufficiency, Unila... |
OMIM:613680 |
| Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Neoplasm of the liver, Hydrocephalus, Nephropathy, Anteverted nares... |
ORPHA:1454 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Abnormal fingertip morphology, Acroosteolysis of distal phalanges (feet), Mic... |
ORPHA:90154 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
2-3 toe syndactyly, Vesicoureteral reflux, Patent foramen ovale, High palate, Tapered finger, Hyp... |
OMIM:618653 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Mesocardia, ... |
OMIM:605376 |
| Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Flared iliac wing, Camptodactyly, Hip dislocation, Hyp... |
OMIM:252500 |
| Ogden Syndrome |
|
Metatarsus valgus, Thick upper lip vermilion, Everted upper lip vermilion, Wide nasal bridge, Ven... |
OMIM:300855 |
| Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
3-Methylglutaconic aciduria, Micrognathia, Hip dysplasia, Positional foot deformity, Short nose, ... |
ORPHA:496790 |
| Lateral Meningocele Syndrome |
|
Meningocele, High palate, Long philtrum, Short nasal bridge, Neurogenic bladder, Ventricular sept... |
OMIM:130720 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide nasal bridge, Short nose, Tented upper lip vermilion, Broad nasal tip, Cleft palate |
OMIM:614207 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Selective tooth agenesis, Toe syndactyly, Microdontia, Depressed nasal tip, Cleft palate, Ectroda... |
OMIM:604292 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Abnormality of the calcaneus, Aplasia/hypoplas... |
ORPHA:40366 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short 5th finger, Tapered finger, Wide nasal bridge, Urethral stricture, Dysphagia, Ventricular s... |
OMIM:619522 |
| Cebalid Syndrome |
|
High palate, Depressed nasal ridge, Short nose, Depressed nasal bridge, Anteverted nares |
OMIM:618774 |
| Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Ventriculomegaly, Micrognathia, Short nose, Everted lower lip vermil... |
OMIM:608013 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Semilobar holoprosencephaly, Hitchhiker thumb, Lobar holoprosencephaly, Neonatal death, Agenesis ... |
OMIM:618500 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Wiedemann-Steiner Syndrome |
|
Dilatation of renal calices, Gastroesophageal reflux, High palate, Rhizomelia, Tapered finger, Lo... |
ORPHA:319182 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Abnormal pelvic girdle bone morphology, Anter... |
OMIM:600057 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Subvalvular aortic stenosis, Tapered finger, Cleft soft palate, Ventriculomegaly... |
OMIM:619503 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Long philtrum, Short nose, Adducted thumb, Bilateral single transverse palmar c... |
ORPHA:50810 |
| Bardet-Biedl Syndrome 1 |
|
Broad foot, High palate, Foot polydactyly, Aganglionic megacolon, Hypodontia, Left ventricular hy... |
OMIM:209900 |
| Cholesteryl Ester Storage Disease |
|
Esophageal varix |
ORPHA:75234 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Malabsorption, Aganglionic megacolon, Long fibula, Abnormal metaphysis morphology |
ORPHA:935 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract infections, An... |
OMIM:614069 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamous cell carc... |
ORPHA:424019 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Submucous cleft har... |
ORPHA:3426 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Hypoplastic iliac wing, Genu varum, Genu valgum, Metaphyseal irregularity, High palate, Vertebral... |
ORPHA:93315 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Micrognathia, Dermatan sulfate excretion in urine, Tracheal stenosis, Co... |
OMIM:607015 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Short stature, Atrial septal defect, Aortic regurg... |
ORPHA:261330 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse, Hydrocephalus, Agenesis ... |
ORPHA:2556 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Microdontia, Abnormal thumb morphology, Short nose, Abnormal palate morphology, Narrow mouth, Dep... |
ORPHA:2719 |
| Proboscis Lateralis |
|
Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Holopr... |
ORPHA:141099 |
| White-Kernohan Syndrome |
|
Underdeveloped nasal alae, Gastroesophageal reflux, Wide mouth, Hip dysplasia, Hydroureter, Short... |
OMIM:619426 |
| Deeah Syndrome |
|
Extra-axial cerebrospinal fluid accumulation, High palate, Narrow palate, Long philtrum, Death in... |
OMIM:619004 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Conotruncal defect, Ventriculomegaly, Abnormal cardiac septum morphology, ... |
ORPHA:96147 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Abnormal foot morphology, Bicuspid aortic valve, Hydrocephalus, Aortic valve stenosis |
OMIM:615599 |
| Osteogenesis Imperfecta |
|
Convex nasal ridge, Noncommunicating hydrocephalus, Ventriculomegaly, Delayed eruption of teeth, ... |
ORPHA:666 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, 4-5 finger syndactyly, Lobar holoprosencephaly, Optic nerve hypoplasia, ... |
ORPHA:468631 |
| Fontaine Progeroid Syndrome |
|
Convex nasal ridge, Micrognathia, Microdontia, Everted lower lip vermilion, Smooth philtrum, Deep... |
OMIM:612289 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Cleft upper lip, Hydrocephalus |
ORPHA:398189 |
| Glycogen Storage Disease Iv |
|
Esophageal varix, Tubulointerstitial fibrosis, Cardiomyopathy |
OMIM:232500 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Gm1 Gangliosidosis Type 1 |
|
Broad long bone diaphyses, Long philtrum, Short long bone, Flattened femoral head, Flared iliac w... |
ORPHA:79255 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Short nose |
OMIM:618087 |
| Alg3-Cdg |
|
Cardiomyopathy, Abnormality of limb bone morphology, Metaphyseal chondrodysplasia, Neural tube de... |
ORPHA:79321 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Cleft upper lip, High palate, Hyperextensibility of the finger joints, Wide nasal brid... |
OMIM:213980 |
| Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Delayed eruption of teeth, Micrognathia, Communicating hydrocephalus, Abnorm... |
ORPHA:2050 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Aplastic clavicle, Patellar aplasia, Micrognathia, S... |
ORPHA:2554 |
| Atrioventricular septal defect 3 |
|
Atrioventricular canal defect, Primum atrial septal defect, Inlet ventricular septal defect |
OMIM:600309 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal hip bone morphology, Hydrocephalus, High palate, Arachnodactyly |
ORPHA:2720 |
| 7Q11.23 Microduplication Syndrome |
|
Ventriculomegaly, Short lingual frenulum, Micrognathia, Abnormal columella morphology, Ventricula... |
ORPHA:96121 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Holoprosencephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:618820 |
| Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Finger syndactyly, Spina bifida, Toe syndactyly, Edema, Rocker bottom foot |
OMIM:616038 |
| Witteveen-Kolk Syndrome |
|
Ventriculomegaly, Wide nasal bridge, Toe syndactyly, Overlapping toe, Radial deviation of finger,... |
OMIM:613406 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
| Darier Disease |
|
Anal mucosal leukoplakia, Palmoplantar keratoderma, Plantar pits |
ORPHA:218 |
| Rabson-Mendenhall Syndrome |
|
Wide nose, Polydactyly, Cardiomyopathy, High palate, Ventricular septal defect, Prominent nasal b... |
ORPHA:769 |
| Secondary Short Bowel Syndrome |
|
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... |
ORPHA:95427 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Convex nasal ridge, Encephalocele, Short nose |
OMIM:200130 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Toe syndactyly, Camptodactyly, Radial deviation of finger, Rocker bottom foot, Pa... |
OMIM:256520 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Convex nasal ridge, Hallux valgus, Wide nasal bridge, Delayed eruption of teeth, Lateral ventricl... |
ORPHA:261537 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Wide nasal bridge, Submucous cleft hard palate, Single transverse palmar... |
OMIM:618106 |
| Crouzon Syndrome |
|
Convex nasal ridge, Narrow palate, Hydrocephalus, Choanal atresia |
ORPHA:207 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Submucous cleft hard palate, Pes planus, Anteverted nares, Scapular winging, Unilat... |
OMIM:619122 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Bifid uvula, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Short ribs, Missing ribs, Anal atresia, Hydronephrosis |
OMIM:271520 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Enamel hypoplasia, Cleft upper lip, Underdeveloped nasal alae, Microdontia, Veloph... |
OMIM:129400 |
| Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Cleft soft palate, Wide nasal bridge, Micrognathia, Short nose, Submucous cleft soft palate, Hypo... |
ORPHA:2282 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
| Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Genu valgum, Ventricular septal defect, Capitate-hamate fusion, Fo... |
ORPHA:289 |
| Chromosome 3Q29 Duplication Syndrome |
|
Wide nasal bridge, Short nose, Multiple palmar creases, Bulbous nose, Pes planus |
OMIM:611936 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnorm... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Abnorm... |
ORPHA:352665 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Hydrocephalus, Flared metaphysis, Carious teeth, Femur fracture |
OMIM:259700 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
High palate, Long philtrum, Narrow nasal ridge, Aqueductal stenosis, Micrognathia, Hydrocephalus,... |
OMIM:619512 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Hydrocephalus, Microretrognathia, Narrow iliac wing |
OMIM:616294 |
| Menke-Hennekam Syndrome 1 |
|
Everted upper lip vermilion, Micrognathia, Overlapping toe, Broad hallux, Cleft palate, Hip dyspl... |
OMIM:618332 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Ventriculomegaly, Short nose, Thin upper lip vermilion, Narrow mouth, Ante... |
OMIM:613735 |
| Mowat-Wilson Syndrome |
|
Tapered finger, Hallux valgus, Wide nasal bridge, Delayed eruption of teeth, Ventriculomegaly, Ab... |
ORPHA:2152 |
| Monosomy 9P |
|
High palate, Long philtrum, Abnormality of the tarsal bones, Micrognathia, Choanal atresia, Short... |
ORPHA:261112 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Narrow palate, Long philtrum, Abnormal large intestine morphology, Micrognathia, Intes... |
ORPHA:109 |
| Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:619657 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Adnp Syndrome |
|
Polydactyly, Gastroesophageal reflux, 2-3 toe syndactyly, Urinary incontinence, Ventriculomegaly,... |
ORPHA:404448 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Atrioventricular canal defect, Postaxial polydactyly, Short ribs, Short long bone, Hypodontia, Ap... |
OMIM:617088 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Ventriculomegaly, Hydrocephalus, Clinodactyly, Syndactyly |
ORPHA:2169 |
| Viss Syndrome |
|
Bifid tongue, Cleft soft palate, Micrognathia, Bifid uvula, Hip dislocation, Submucous cleft soft... |
OMIM:619472 |
| Neu-Laxova Syndrome |
|
Broad foot, Abnormality of the philtrum, Depressed nasal ridge, Ventriculomegaly, Spina bifida, M... |
ORPHA:2671 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Patellar hypoplasia, Patellar aplasia, Hypoplastic radial head, Spina bifida, Ili... |
OMIM:161200 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, Hypodontia, Bifid uvula, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th... |
ORPHA:69085 |
| Prolidase Deficiency |
|
High palate, Micrognathia, Short nose, Depressed nasal bridge, Concave nasal ridge, Hyperimidodip... |
OMIM:170100 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Prominent nose, Depressed nasal ridge, Aplasia/hypoplasia of the femur, Missin... |
ORPHA:2769 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Short distal phalanx of finger, Epiphyseal stippling, Short nose |
OMIM:277450 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
| Enlarged Parietal Foramina |
|
Short clavicles, Occipital encephalocele, Broad thumb, Myelomeningocele |
ORPHA:60015 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Micrognathia, Tetraphocomelia, Epiphyseal stippling, Hypoplastic vertebr... |
OMIM:215140 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hydrocephalus, Left ventricular hypertrophy, Death in childhood, Dandy-Walker m... |
OMIM:613153 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia |
ORPHA:99772 |
| Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
| Tenorio Syndrome |
|
Wide nose, Gastroesophageal reflux, Recurrent aphthous stomatitis, Ventriculomegaly, Wide mouth, ... |
OMIM:616260 |
| Micro Syndrome |
|
High palate, Wide nasal bridge, Micrognathia, Short philtrum, Hypoplasia of penis, Short nose, An... |
ORPHA:2510 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormal foot morphology, Bicuspid aortic valve, Hydrocephalus |
ORPHA:397951 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Micrognathia, Short nose, Arachnodactyly |
ORPHA:1129 |
| Joubert Syndrome 39 |
|
Hypoplastic left heart, Occipital encephalocele, Postaxial polydactyly, Joint contracture of the ... |
OMIM:619562 |
| Mucopolysaccharidosis Type 3 |
|
Genu valgum, Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Ventriculomegaly,... |
ORPHA:581 |
| Stickler Syndrome |
|
Micrognathia, Hip dislocation, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal dental enamel... |
ORPHA:828 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Palmoplantar hyperkeratosis, Intra... |
OMIM:619127 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Short nose... |
OMIM:300749 |
| Plummer-Vinson Syndrome |
|
Esophageal web, Tongue atrophy, Glossitis, Narrow mouth, Intra-oral hyperpigmentation, Dysphagia,... |
ORPHA:54028 |
| Braddock Syndrome |
|
Missing ribs, Micrognathia, Preaxial hand polydactyly, Unilateral renal agenesis |
ORPHA:52047 |
| Dubowitz Syndrome |
|
Gastroesophageal reflux, High palate, Wide nasal bridge, Delayed eruption of teeth, Micrognathia,... |
OMIM:223370 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
| Posterior Meningocele |
|
Meningocele, Neural tube defect, Occipital meningocele, Hydromyelia, Hydrocephalus, Lipomyelomeni... |
ORPHA:268810 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Myocarditis, Short metacarpal, Long fibula, Met... |
ORPHA:93317 |
| Esophageal Atresia |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1199 |
| Isotretinoin-Like Syndrome |
|
Gastroesophageal reflux, Conotruncal defect, Micrognathia, Bicuspid aortic valve, Hydrocephalus, ... |
ORPHA:2306 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Gastroesophageal reflux, Macroglossia, Short nose, Everted lower lip vermilion, Depressed nasal b... |
ORPHA:261144 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High palate, Long philtrum, Prominent nasolabial fold, Short nose, Congenital hip dislocation, Br... |
ORPHA:357074 |
| Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Macroglossia, Calf muscle pseudohypert... |
ORPHA:370959 |
| Radial-Renal Syndrome |
|
Ectopic kidney, Absent thumb, Unilateral renal agenesis, Absent radius |
OMIM:179280 |
| Developmental And Epileptic Encephalopathy 75 |
|
Wide nasal bridge, Short philtrum, Short nose, Anteverted nares, Open mouth, Cardiomyopathy |
OMIM:618437 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Anteriorly placed anus, Dysphagia |
ORPHA:280195 |
| Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Micrognathia, Mitral valve prolapse, Bifid uvula, Cam... |
OMIM:609192 |
| 47,Xyy Syndrome |
|
Hydrocephalus, Azoospermia, Oligospermia, Hypospadias, Finger clinodactyly, Micropenis |
ORPHA:8 |
| Wolf-Hirschhorn Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Micrognathia, Abnormal lip morphology, Sho... |
ORPHA:280 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Wide nasal bridge, Micrognathia, Microdontia, Everted lower lip vermilion, Smooth ph... |
OMIM:613610 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
| Native American Myopathy |
|
Gastroesophageal reflux, High palate, Micrognathia, Bifid uvula, Camptodactyly, Submucous cleft s... |
ORPHA:168572 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Esophageal varix, Gastrointestinal hemorrhage |
OMIM:617341 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Epistaxis, Hepatocellular carcinoma |
OMIM:619463 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microphthalmia, Single ventricle, Ethmocephaly, Agenesis of corpus call... |
OMIM:236100 |
| Alexander Disease Type I |
|
Hydrocephalus, Dysphagia |
ORPHA:363717 |
| Lhermitte-Duclos Disease |
|
Hydrocephalus, Hand polydactyly, Macroglossia |
ORPHA:65285 |
| Ayme-Gripp Syndrome |
|
Tapered finger, Long philtrum, Wide nasal bridge, Camptodactyly, Radioulnar synostosis, Short nos... |
OMIM:601088 |
| Classic Homocystinuria |
|
Genu valgum, High palate, Gastrointestinal hemorrhage, Arachnodactyly, Esophageal varix, Dental c... |
ORPHA:394 |
| Restrictive Dermopathy 1 |
|
Overtubulated long bones, Convex nasal ridge, Narrow nasal ridge, Natal tooth, Micrognathia, Shor... |
OMIM:275210 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Wide nasal bridge, Hypodontia, Microdontia, Oligodontia, Short philtrum, Anal atresia, Thin upper... |
OMIM:180500 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Hip dysplasia, Hydrocephalus, Clinodactyly of the 5th finger, Unilateral renal ... |
ORPHA:457284 |
| Tolchin-Le Caignec Syndrome |
|
High palate, Prominent nose, Wide nasal bridge, Cardiac rhabdomyoma, Micrognathia, Submucous clef... |
OMIM:618971 |
| Netherton Syndrome |
|
Abnormal intestine morphology, Intestinal atresia, Villous atrophy, Allergic rhinitis |
OMIM:256500 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, High palate, Deep philtrum, Micrognathia, Short nose, Thin upper lip vermilion |
ORPHA:329178 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Broad foot, Tapered finger, Micrognathia, Slender finger, Smooth philtrum, Patent foramen ovale, ... |
OMIM:619841 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Ebstein anomaly of the tricuspid valve, Short philtrum, Bifid nose, Unila... |
OMIM:608980 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased CSF lactate, Depressed nasal bridge, Proximal renal tubular acidosis, Postaxial polydac... |
OMIM:615824 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Atrioventricular canal defect, Unbalanced atrioventricular c... |
OMIM:619534 |
| Beta-Ureidopropionase Deficiency |
|
Bladder exstrophy, Anal atresia |
OMIM:613161 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Finger syndactyly, Spina bifida occulta, Anomalous pulmonar... |
ORPHA:2311 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Hardikar Syndrome |
|
Umbilical hernia, Vesicoureteral reflux, Hydronephrosis, Bladder exstrophy, Patent foramen ovale,... |
OMIM:301068 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Convex nasal ridge, Hallux valgus, Wide nasal bridge, Delayed eruption of teeth, Lateral ventricl... |
ORPHA:261552 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Micrognathia, Communicating hydrocephalus, Unilateral renal agenesis, Downturned corners of mouth... |
ORPHA:1064 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Vesicoureteral reflux, Patent foramen ovale, High palate, Ventriculomega... |
OMIM:616975 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Atresia Of Small Intestine |
|
Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia |
ORPHA:1201 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Ventriculomegaly, Wide nasal bridge, Lateral ventricle dilatation, Bifid uvula, Sub... |
ORPHA:500150 |
| Warburg Micro Syndrome 2 |
|
Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Short nose, Overlapping toe, Prominent ... |
OMIM:614225 |
| Myhre Syndrome |
|
2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Radial deviation of fin... |
OMIM:139210 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Syndactyly, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
| Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydromyelia, Hydrocephalus, Myeloschisis, Dermal sinus tract, Bila... |
OMIM:600145 |
| Beemer-Ertbruggen Syndrome |
|
Wide nasal bridge, Deep philtrum, Micrognathia, Communicating hydrocephalus, Bulbous nose |
ORPHA:1237 |
| Griscelli Syndrome |
|
Pedal edema, Pyloric stenosis, Hydrocephalus, Encephalocele |
ORPHA:381 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Genu valgum, High palate, Small hand, Lateral ventricle dilatation, Normal pressure hydrocephalus... |
ORPHA:300570 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Esophageal va... |
OMIM:263200 |
| Bladder Exstrophy |
|
Vesicoureteral reflux, Abnormality of the anus, Hypoplasia of penis, Epispadias, Intestinal malro... |
ORPHA:93930 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Solitary Rectal Ulcer Syndrome |
|
Stercoral ulcer, Rectal prolapse, Hematochezia, Anal fissure |
ORPHA:209964 |
| Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Pierre-Robin sequence, Ventricular septal defect, Velopharyngeal insuf... |
OMIM:192430 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Hydronephrosis, Wrist flexion contracture, Micrognathia, Bilater... |
OMIM:609465 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Choanal atresia |
OMIM:612247 |
| Gomez-Lopez-Hernandez Syndrome |
|
High palate, Short nose, Anteverted nares, Smooth philtrum, Thin vermilion border |
OMIM:601853 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Myelomeningocele, Aqueductal stenosis, Hand muscle atrophy, Hydrocephalus, Partial a... |
ORPHA:1136 |
| Gapo Syndrome |
|
Eruption failure, Long philtrum, Ventriculomegaly, Thick lower lip vermilion, Micrognathia, Short... |
OMIM:230740 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Convex nasal ridge, Patellar dislocation, Micrognathia, Broad hallux, Widened distal... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Convex nasal ridge, Patellar dislocation, Micrognathia, Broad hallux, Widened distal... |
ORPHA:353277 |
| Costello Syndrome |
|
Ventriculomegaly, Micrognathia, Hypertrophic cardiomyopathy, Deep palmar crease, Deep plantar cre... |
OMIM:218040 |
| Williams Syndrome |
|
Peptic ulcer, Colonic diverticula, Hallux valgus, Patellar dislocation, Wide nasal bridge, Abnorm... |
ORPHA:904 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Poland Syndrome |
|
Spina bifida occulta, Absent hand, Vesicoureteral reflux, Short ribs, Finger symphalangism, Abnor... |
ORPHA:2911 |
| Shprintzen Omphalocele Syndrome |
|
Wide nasal bridge, Anal atresia, Short columella, Thin vermilion border, Flared nostrils |
OMIM:182210 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Tented upper lip vermilion, Open mouth, Dental crowding, Short nose |
OMIM:300143 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Gastroesophageal reflux, 2-3 toe syndactyly, Prominent nasal tip, Atrial septal defect, Pes valgu... |
ORPHA:522077 |
| Jaberi-Elahi Syndrome |
|
Hand clenching, Dandy-Walker malformation, Short nose, Depressed nasal bridge, Triangular mouth, ... |
OMIM:617988 |
| Dend Syndrome |
|
Long philtrum, Short nose, Clinodactyly of the 4th finger, Downturned corners of mouth, Anteverte... |
ORPHA:79134 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicles, Bilateral talipes e... |
OMIM:618022 |
| Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Atrial septal defect, Postaxial hand polydactyly, ... |
OMIM:619471 |
| B4Galt1-Cdg |
|
Long philtrum, Wide nasal bridge, Hydrocephalus, Thin upper lip vermilion, Dandy-Walker malformation |
ORPHA:79332 |
| Lymphatic Malformation 6 |
|
Polyhydramnios, Webbed neck, Short stature, Lymphedema, Nonimmune hydrops fetalis, Atrial septal ... |
OMIM:616843 |
| Pancreatic insufficiency, combined exocrine |
|
Anal atresia |
OMIM:260450 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cleft upper lip, Ventriculomegaly, Wide mouth, Short nose, Cleft palate, Broad philtrum |
ORPHA:1394 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Lymphedema, Atrial septal defect, Pleural effusion, Edema, Microphthalmia, Chylothorax |
ORPHA:2526 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Wide nasal bridge, Positional foot deformity, Pes cavus, Everted lower lip verm... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Ventriculomegaly, Wide nasal bridge, Positional foot deformity, Pes cavus, Everted lower lip verm... |
ORPHA:363958 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Hydronephrosis, Genu valgum, Patent foramen ovale, High palate, Long philtrum, Ventricular septal... |
ORPHA:363700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus |
OMIM:300886 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Ventricular septal defect, Spina bifida, Clinodactyly of the 5th f... |
ORPHA:1393 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Short toe, Gastroesophageal reflux, Tapered finger, Short foot, Ventriculomegaly, Ventricular sep... |
ORPHA:464311 |
| Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation, Death in infancy |
OMIM:249400 |
| Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Short long bone, Microretrognathia, Tooth agenesis, Mesomelia, Angulated humerus, Bow... |
OMIM:616229 |
| Semilobar Holoprosencephaly |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Single naris, H... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Single naris, H... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Single naris, H... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Single naris, H... |
ORPHA:93924 |
| Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Short 5th finger, Hip dislocation, Atrial septal defect, Brachydac... |
OMIM:300867 |
| Wolman Disease |
|
Esophageal varix, Steatorrhea |
ORPHA:75233 |
| Aspartylglucosaminuria |
|
Umbilical hernia, Aspartylglucosaminuria, Wide nasal bridge, Malabsorption, Macroglossia, Short n... |
ORPHA:93 |
| Loeys-Dietz Syndrome 2 |
|
Protrusio acetabuli, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Joint con... |
OMIM:610168 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Neoplasm of the tongue, Atrioventricular canal defect, Prominent nose, V... |
ORPHA:3047 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Ventriculomegaly, Short nose |
OMIM:615851 |
| Culler-Jones Syndrome |
|
Cleft palate, Cleft upper lip, Micropenis, Postaxial polydactyly |
OMIM:615849 |
| Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Rhizomelia, Widely spaced teeth, Stage 5 chronic kidney disease, Micrognathia... |
OMIM:614099 |
| Williams-Beuren Syndrome |
|
Colonic diverticula, Hallux valgus, Coronary artery stenosis, Microdontia, Celiac disease, Myxoma... |
OMIM:194050 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent foramen ovale, Nephrotic syndrome, Enlarged kidney, Deep palmar crease, Hydrocephalus, Mac... |
ORPHA:505248 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Hydroureter, Cystic renal dysplasia, Postaxial foot polydactyly, Postaxial hand poly... |
OMIM:615989 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Dental malocclusion, Long philtrum, Wide mouth, Micrognathia, Slender long bone, Hyp... |
OMIM:612731 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Gastroesophageal reflux, Anal atresia, Thin upper lip vermilion, Downturned corners of mouth, Sho... |
ORPHA:3164 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Preaxial hand polydactyly, Renal insufficiency, Clinodactyly of the 5th finger, Miscarriage, Hypo... |
ORPHA:96179 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Hallux valgus, Ventriculomegaly, Spontaneous, recurrent epistaxis, Hydroc... |
ORPHA:2072 |
| Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Abnormal right ventricle morphology, Ventricular sept... |
ORPHA:500095 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Long philtrum, Ventriculomegaly, Micrognathia, Hydrocephalus, Flared metaphysis,... |
OMIM:259720 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Renal tubular acidosis, Lateral ventricle dilatation, High, narrow palat... |
OMIM:619575 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly, Anophthalmia |
OMIM:615877 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Death in infancy, Hydrocephalus, Adducted thumb, Death in childh... |
OMIM:614643 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Prominent nose, Wide nasal bridge, Hydrocephalus, Atrial septal de... |
OMIM:614886 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
| Cockayne Syndrome Type 1 |
|
Hypertension, Anophthalmia |
ORPHA:90321 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Hip dislocation |
ORPHA:2003 |
| Senior-Loken Syndrome 8 |
|
Stage 5 chronic kidney disease, Polydactyly, Global glomerulosclerosis, Nephronophthisis |
OMIM:616307 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Ventriculomegaly, Polycystic kidney dysplasia, Cystic renal dysplas... |
ORPHA:228308 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Micrognathia, Short nose, Horseshoe kidney, Renal hypoplasia |
OMIM:266810 |
| Aprosencephaly Syndrome |
|
Hand oligodactyly, Anencephaly, Aprosencephaly |
OMIM:207770 |
| Ablepharon-Macrostomia Syndrome |
|
Short upper lip, Short metacarpal, Cutaneous finger syndactyly, Toe syndactyly, Wide mouth, Abnor... |
OMIM:200110 |
| Ciliary Dyskinesia, Primary, 1 |
|
Recurrent bronchitis, Communicating hydrocephalus, Nasal polyposis, Chronic rhinitis, Absent fron... |
OMIM:244400 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Esophageal varix, Abnormal cardiomyocyte morphology, Dilated cardiomyopathy |
ORPHA:367 |
| Noonan Syndrome 2 |
|
Atrioventricular canal defect, Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosi... |
OMIM:605275 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Hepatocellular carcinoma, Ventricular septal hypertrophy, Abnormal heart ... |
ORPHA:370 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Long philtrum, Increased urinary taurine, Ventriculomegaly, Xanthine nephrolithiasis, Increased u... |
OMIM:252160 |
| Mucolipidosis Iii Alpha/Beta |
|
Short long bone, Short ribs, Irregular carpal bones, Carpal bone hypoplasia, Soft tissue swelling... |
OMIM:252600 |
| Macrocephaly/Autism Syndrome |
|
High palate, Long philtrum, Penile freckling, Short nose, Depressed nasal bridge |
OMIM:605309 |
| Martinez-Frias Syndrome |
|
Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadias, Intestinal hypop... |
OMIM:601346 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Mitten deformity, Gastroesophageal reflux, Foot joint contracture, Enamel hypoplasia, Renal insuf... |
ORPHA:79408 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:615862 |
| Whipple Disease |
|
Pedal edema, Malabsorption, Hydrocephalus, Pericarditis, Gastrointestinal hemorrhage, Myocarditis |
ORPHA:3452 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Narrow mouth, Abn... |
OMIM:154500 |
| Cog1-Cdg |
|
Coxa valga, High palate, Rhizomelia, Short long bone, Pierre-Robin sequence, Micrognathia, Long p... |
ORPHA:263508 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Bifid ureter, Pyloric stenosis, Hydrocephalus, Depressed nasal bridge, Dex... |
ORPHA:1571 |
| Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
| Central Precocious Puberty |
|
Hydrocephalus |
ORPHA:759 |
| Diamond-Blackfan Anemia 8 |
|
Thick upper lip vermilion, Wide nasal bridge, Short nose |
OMIM:612563 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Pes cavus, Short nose |
ORPHA:289266 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
High palate, Ventriculomegaly, Communicating hydrocephalus, Long foot, Arachnodactyly, Large hand... |
OMIM:617011 |
| Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Recurrent bronchitis, Anal atresia |
ORPHA:1572 |
| Craniofacial Microsomia |
|
Patent ductus arteriosus, Genu valgum, Branchial anomaly, Ventricular septal defect, Anophthalmia... |
OMIM:164210 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Uric acid nephrolithiasis, Convex nasal ridge, High palate, Wide mouth, Short nose,... |
OMIM:300661 |
| Budd-Chiari Syndrome |
|
Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Esophageal varix, Gastrointes... |
ORPHA:131 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Thoracoabdominal Syndrome |
|
Cleft upper lip, Anencephaly, Hydrocephalus, Ectopia cordis, Hypospadias, Cleft palate, Transposi... |
OMIM:313850 |
| Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Oral ulcer, Crohn's disease, Perianal abscess, Nephrotic syndrome, Ulcerative colitis, Anal fissure |
OMIM:618935 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Arrhythmia, Raynaud phenomenon, Lymphedema |
ORPHA:2874 |
| Hepatoportal Sclerosis |
|
Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Gastric varix |
ORPHA:64743 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Neonatal death, Abnormal cardiac septum morphology |
OMIM:601612 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Lateral ventricle dilatation, Death in infancy, Hydrocephalus, Femur fracture, Death in childhood |
OMIM:612301 |
| Poikiloderma With Neutropenia |
|
Underdeveloped nasal alae, Long philtrum, Micrognathia, Recurrent sinusitis, Plantar hyperkeratos... |
OMIM:604173 |
| Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration |
OMIM:245200 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Wide nose, Communicating hydrocephalus, Anomalous pulmonary venous return, Long nose, Tetralogy o... |
ORPHA:2184 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventriculomegaly, Wide nasal bridge, Smooth philtrum, Depressed nasal tip, Talipes equinovarus, G... |
OMIM:619475 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Curved middle phalanx of the 4th toe, Atrioventricular canal defect, Tricuspid valve prolapse, Ar... |
ORPHA:276413 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Encephalocele, Ventriculomegaly, Death in infancy, Hydrocephalus, Macroglossia, ... |
OMIM:613150 |
| Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Abnormal mitral valve morphology, Mitral valve prolapse, Hypertrop... |
ORPHA:500 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Micrognathia, Microdontia, Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Endocardial fibroelastosis, Communicating hydrocephalus, Death in infancy |
OMIM:600559 |
| Alpha-Mannosidosis, Infantile Form |
|
Genu valgum, Talipes valgus, Widely spaced teeth, Hypoplastic inferior ilia, Communicating hydroc... |
ORPHA:309282 |
| Amelocerebrohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Hydrocephalus, Amelogenesis imperfecta, Abnormality of d... |
ORPHA:1946 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Contracture of thumb, High palate, Finger syndactyly, Ventriculomegaly, Toe syndacty... |
OMIM:607932 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Congenital pyloric atresia, Urethral stricture, Hematuria, Urinary bladder inf... |
ORPHA:79403 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Long philtrum, Increased urinary taurine, Ventriculomegaly, Increased urinary thiosulfate, Absent... |
OMIM:252150 |
| Crouzon Syndrome |
|
Dental crowding, Hydrocephalus, High palate, Deviated nasal septum |
OMIM:123500 |
| Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Steatorrhea, Death in infancy |
OMIM:278000 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Hydrocephalus, Chronic rhinitis, Abno... |
ORPHA:667 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Malabsorption, Acholic stools, Intestinal malrotation, Anteriorly placed anus, M... |
OMIM:615710 |
| Coccidioidomycosis |
|
Hypoglycorrhachia, Abnormal long bone morphology, CSF pleocytosis, Abnormal metacarpal morphology... |
ORPHA:228123 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Gastroesophageal reflux, Long philtrum, Micrognathia, Tented philtrum, Renal cyst, Anteriorly pla... |
ORPHA:495875 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:618929 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Diets-Jongmans Syndrome |
|
Ventricular septal defect, Wide mouth, Hip dysplasia, Thin upper lip vermilion, Hypospadias, Broa... |
OMIM:618846 |
| Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus, Anteverted nares, Lower limb asymmetry, Open bite, Ge... |
ORPHA:2969 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Malabsorption, Short nose, Intestinal obstruction, Triangular mouth |
OMIM:601675 |
| Oxoglutaric Aciduria |
|
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology, Hydrocephalus |
ORPHA:31 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Talipes equinovarus, Bladder diverticulum, Pes planus, Umbilical hernia |
OMIM:614557 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Hyposmia, Bifid uvula, Submucous cleft hard palate, Hypoplasia of pen... |
ORPHA:2250 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Lateral Meningocele Syndrome |
|
Meningocele, Ventricular septal defect, Umbilical hernia |
ORPHA:2789 |
| Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Noonan Syndrome 3 |
|
Patent foramen ovale, High palate, Ventricular septal defect, Mitral valve prolapse, Atrial septa... |
OMIM:609942 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Ankle clonus, Talipes valgus, Submucous cleft hard palate, Atrial septal defect, Pes cavus, Hypos... |
OMIM:618891 |
| Branchiooculofacial Syndrome |
|
Gastroesophageal reflux, Cleft upper lip, Preaxial hand polydactyly, Lower lip pit, Branchial ano... |
OMIM:113620 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Macroglossia, Short nose, Depressed nasal bridge, Concave nasal ridge, Anteverted nares |
OMIM:613038 |
| Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Tracheal stenosis |
ORPHA:3348 |
| Neurofibromatosis, Type I |
|
Genu valgum, Aqueductal stenosis, Spina bifida, Hydrocephalus, Renal artery stenosis, Tibial pseu... |
OMIM:162200 |
| Restrictive Dermopathy |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Natal tooth, Microcolon, Microgna... |
ORPHA:1662 |
| Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Encephalocele, Spina bifida, Hypoplastic left heart, Situs inv... |
ORPHA:991 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ventricular... |
OMIM:270100 |
| Distal Monosomy 3P |
|
Postaxial hand polydactyly, Atrioventricular canal defect, Clinodactyly of the 5th finger |
ORPHA:1620 |
| Adenylosuccinase Deficiency |
|
Long philtrum, Wide mouth, Short nose, Thin upper lip vermilion, Smooth philtrum, Anteverted nares |
OMIM:103050 |
| Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... |
OMIM:212093 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Broad foot, Humeroradial synostosis, Vesicovaginal fistula, Camptodactyly, Rocker bottom foot, Ch... |
OMIM:201750 |
| Jung Syndrome |
|
Depressed nasal bridge, Tracheal stenosis, Wide nasal bridge |
ORPHA:2321 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Depressed nasal ridge, Acute kidney injury, Fat malabsorption, Micrognathia,... |
ORPHA:731 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele |
ORPHA:861 |
| Hypoplasminogenemia |
|
Gingivitis, Duodenal ulcer, Periodontitis, Gingival overgrowth, Hydrocephalus, Nephrolithiasis, D... |
ORPHA:722 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Hepatocellular adenoma, Esophageal varix, Myoglobinuria, Cardiomyopathy |
ORPHA:264580 |
| Coach Syndrome 2 |
|
Hydrocephalus |
OMIM:619111 |
| Cirrhosis, Familial |
|
Esophageal varix, Increased level of L-fucose in urine |
OMIM:215600 |
| Legius Syndrome |
|
Polydactyly, Mitral valve prolapse, Clinodactyly of the 5th finger, Desmoid tumors, Male urethral... |
ORPHA:137605 |
| Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Pelv... |
OMIM:613001 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Micrognathia, Short nose |
OMIM:256600 |
| Hemangioblastoma |
|
Hydrocephalus, Neurogenic bladder |
ORPHA:252054 |
| Mucopolysaccharidosis Type 2 |
|
Wide nose, Cardiomyopathy, Wide nasal bridge, Abnormal mitral valve morphology, Hip dysplasia, Ab... |
ORPHA:580 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
High palate, Ventriculomegaly, Communicating hydrocephalus, Long foot, Arachnodactyly, Prominent ... |
ORPHA:457359 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
| Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
| Barrett Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
| Wilson Disease |
|
Pedal edema, Aminoaciduria, Hyposmia, Glycosuria, Hyperphosphaturia, Hepatocellular carcinoma, Re... |
OMIM:277900 |
| Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Partial agenesis of the corp... |
OMIM:304050 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Gastrointestinal atresia, Intestinal malrotation, Rectal abscess, Jeju... |
ORPHA:436252 |
| Neuroocular Syndrome |
|
Patent foramen ovale, Tapered finger, Hyperextensibility of the finger joints, Tibial torsion, Wi... |
OMIM:619539 |
| Hallermann-Streiff Syndrome |
|
Pulmonary arterial hypertension, Telangiectasia, Spina bifida, Slender long bone, Hypertension, A... |
OMIM:234100 |
| Choanal Atresia |
|
Polydactyly, Nasal congestion |
ORPHA:137914 |
| Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Intestinal polyposis, Epistaxis, Gastrointestinal hemorrhage, Esophageal varix, Nephro... |
ORPHA:774 |
| Cockayne Syndrome A |
|
Hypoplastic iliac wing, Dental malocclusion, Enamel hypoplasia, Hip contracture, Delayed eruption... |
OMIM:216400 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hydrocephalus |
ORPHA:163596 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Cranium bifidum occultum, Bifid uvula, Bifid nose, Sh... |
OMIM:229400 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix |
OMIM:619662 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Avascular necrosis of the capital femoral epiphysis, Macular edema, Retinal cotton wool spot, Ret... |
ORPHA:247691 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Urinary incontinence, Normal pressure hydrocephalus |
OMIM:236690 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Hypoplasia of teeth, Ventricular septal defect, Anteverted nares, Short nose |
OMIM:234050 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Cockayne Syndrome B |
|
Hypoplastic iliac wing, Dental malocclusion, Renal insufficiency, Delayed eruption of primary tee... |
OMIM:133540 |
| Pyknoachondrogenesis |
|
Depressed nasal ridge, Short long bone, Short ribs, Aplastic pubic bones, Short iliac bones, Abno... |
ORPHA:3003 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hydrocephalus, Macroglossia, Hypertrophic cardiomyopathy, ... |
OMIM:261740 |
| Tracheal Agenesis |
|
Tracheal atresia, Abnormal cardiac septum morphology |
ORPHA:3346 |
| Senior-Boichis Syndrome |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Abnormal urinary electrolyte concen... |
ORPHA:84081 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Mowat-Wilson Syndrome |
|
Ventriculomegaly, Wide nasal bridge, Delayed eruption of teeth, Widely spaced teeth, Aganglionic ... |
OMIM:235730 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Short nose |
ORPHA:2835 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Bulbous nose, Communicating hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:615219 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
| Mednik Syndrome |
|
Jejunal atresia, Death in infancy, Volvulus, Microcolon, Neonatal death, Death in childhood |
OMIM:609313 |
| Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Allergic rhinitis, Esophageal ulceration, Hypodontia, Bicuspid aortic valve,... |
OMIM:176690 |
| Neonatal Lupus Erythematosus |
|
Abnormal heart morphology, Hydrocephalus, Dilated cardiomyopathy |
ORPHA:398124 |
| Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Tapered finger, Spina bifida, Partial ag... |
OMIM:619480 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrioventricular canal defect, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Di... |
OMIM:619573 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Hypoplastic iris stroma |
OMIM:193500 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycorrhachia, Hydrocephalus, Left ventricular hypertrophy, Increased CSF lactate |
ORPHA:90065 |
| Marfan Syndrome |
|
Meningocele, Protrusio acetabuli, Increased axial length of the globe, Limited elbow movement, Hy... |
ORPHA:558 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus |
OMIM:601794 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Pes valgu... |
OMIM:613154 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Multicystic kidney dysplasia, Ventriculomegaly, Anencephaly, Hydrocephalus, Com... |
OMIM:615287 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Glutaric aciduria, Dysphagia... |
ORPHA:25 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Ketonuria, Hydrocephalus, Stomatitis, Glossiti... |
ORPHA:79282 |
| Glutaric Acidemia I |
|
Hydrocephalus, Glutaric aciduria, Lateral ventricle dilatation, Ketonuria |
OMIM:231670 |
| Caroli Disease |
|
Esophageal varix, Polycystic kidney dysplasia, Cholangiocarcinoma |
ORPHA:53035 |
| Neurofibromatosis Type 1 |
|
Genu varum, Genu valgum, Neoplasm of the gastrointestinal tract, Slender long bone, Hydrocephalus... |
ORPHA:636 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Oral ulcer, Aphthous ulcer, Dilated cardiomyopathy, Recurrent sinusitis, Esophageal varix |
OMIM:615688 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Aortic valve atresia, Mitral atresia, Wide nasal bridge, Death in infancy, Ketonuria, Micrognathi... |
OMIM:220111 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hypoglycorrhachia, Communicating hydrocephalus, Brachydactyly |
ORPHA:168577 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris, Short nose |
OMIM:122880 |
| Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal adenocarcinoma, Re... |
ORPHA:424016 |
| Gaucher Disease |
|
Abnormal pericardium morphology, Mitral valve calcification, Ventriculomegaly, Death in infancy, ... |
ORPHA:355 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Ventricular septal defect, Hydrocephalus, Renal cyst, Cleft palate |
ORPHA:137675 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Hydrocephalus, Pes cavus, Cardiomegaly, Aortic valve calcification, Mitral valve... |
OMIM:231005 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hydrocephalus, Hematuria, Ne... |
OMIM:277400 |
| Split Cord Malformation |
|
Meningocele, Urinary incontinence, Myelomeningocele, Detrusor sphincter dyssynergia, Neurogenic b... |
ORPHA:573278 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Underdeveloped nasal alae, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp... |
OMIM:305100 |
| Hec Syndrome |
|
Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis |
ORPHA:2119 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy, Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Chapp... |
ORPHA:294023 |
| Medulloblastoma |
|
Hydrocephalus, Adenomatous colonic polyposis |
ORPHA:616 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus |
OMIM:615249 |
| Pendred Syndrome |
|
Nephropathy, Tracheal stenosis |
ORPHA:705 |
| Alexander Disease |
|
Hydrocephalus, High palate, Aqueductal stenosis, Dysphagia |
ORPHA:58 |
| Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Finger syndactyly, Nephrotic syndrome, Hypoplasia of penis, Postaxi... |
ORPHA:110 |
| Caroli Syndrome |
|
Polycystic kidney dysplasia, Esophageal varix, Cholangiocarcinoma, Hematemesis, Melena |
ORPHA:480520 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Intestinal perforation, Rhinitis, Abnormality of the anus, Acute kidney injury, Dysuria, Oral syn... |
ORPHA:95455 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix, Hypertrophic cardiomyopathy |
ORPHA:309854 |
| Sturge-Weber Syndrome |
|
Hydrocephalus, Gingival overgrowth, Dysphagia |
ORPHA:3205 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Palmoplantar keratoderma, Flexion contracture of finger |
ORPHA:1010 |
| Functioning Gonadotropic Adenoma |
|
Oligospermia, Hydrocephalus |
ORPHA:91348 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Hepatocellular Carcinoma |
|
Esophageal varix, Pedal edema, Abnormal rectum morphology |
ORPHA:88673 |
| Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypernatriuria, Renal salt wasting, Steatorrhea, Esophage... |
ORPHA:275761 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal spinal cord morphology, Myelopathy |
ORPHA:139396 |
| Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hydrocephalus, Hematuria, Chylopericardium, Abnormal urinary color, Multipl... |
ORPHA:538 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Dural Sinus Malformation |
|
Hydrocephalus, Myelopathy |
ORPHA:97339 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Hypoplastic left heart, A... |
OMIM:618748 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Homocystinuria, Ventriculomegaly |
ORPHA:395 |
| Ciliary Dyskinesia, Primary, 43 |
|
Chronic rhinitis, Noncommunicating hydrocephalus, Recurrent upper respiratory tract infections |
OMIM:618699 |
| 1P21.3 Microdeletion Syndrome |
|
Micrognathia, Broad nasal tip, Wide mouth, Short nose |
ORPHA:293948 |
| Relapsing Polychondritis |
|
Myocarditis, Recurrent aphthous stomatitis, Abnormal aortic valve morphology, Hematuria, Pericard... |
ORPHA:728 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Talipes equinovarus |
OMIM:601374 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Esophageal varix, Gastroesophageal reflux, Intestinal malrotation, High palate |
OMIM:613658 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
| Peroxisome Biogenesis Disorder 4B |
|
Single transverse palmar crease, Ureterocele, Short nose |
OMIM:614863 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria, Communicating hydrocephalus, Cardiomyopathy |
OMIM:616084 |
| Knobloch Syndrome 1 |
|
Patent ductus arteriosus, Occipital meningocele, Macular hypoplasia, Spina bifida occulta, Occipi... |
OMIM:267750 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Hydrocephalus, Abnormal heart morphology, Neurogenic bladder |
ORPHA:137667 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Bacterial endocarditis, Aortopulmonary window, Ventricular septal ... |
ORPHA:97214 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal palate morphology, Narrow iliac wing, Hip contracture, Hydrocephalus |
ORPHA:3042 |
| Igg4-Related Thyroid Disease |
|
Dysphagia, Tracheal stenosis, Sialadenitis |
ORPHA:64744 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Adrenomyeloneuropathy |
|
Abnormal spinal cord morphology, Dorsal column degeneration, Atrophy of the spinal cord |
ORPHA:139399 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Granulomatosis With Polyangiitis |
|
Oral ulcer, Concave nasal ridge, Tracheal stenosis |
OMIM:608710 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Short nasal bridge, Ventriculomegaly, Micrognathia, Hydrocephalus, Everted lower lip vermilion |
OMIM:253280 |
| Meningioma |
|
Urinary incontinence, Neoplasm of the tongue, Abnormality of the sense of smell, Hydrocephalus |
ORPHA:2495 |
| Full Nf2-Related Schwannomatosis |
|
Hydrocephalus, Myelopathy, Dysphagia |
ORPHA:637 |
| Alström Syndrome |
|
Gingivitis, Recurrent sinusitis, Myocardial fibrosis, Glomerulonephritis, Oligospermia, Tooth age... |
ORPHA:64 |
| Craniopharyngioma |
|
Hydrocephalus, Abnormal nasal bone morphology |
ORPHA:54595 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Microcolon, Pyelonephritis, Ileal atresia, Megacystis |
OMIM:619351 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus |
ORPHA:220295 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Narrow nasal ridge, Short nose, Polyuria, Narrow mouth, Dysphagia |
OMIM:606721 |
| Retinitis Pigmentosa |
|
Anteverted nares, Hypoplasia of penis, Wide nasal bridge |
ORPHA:791 |
| Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney... |
ORPHA:805 |
| Superficial Siderosis |
|
Abnormal spinal cord morphology, Atrophy of the spinal cord |
ORPHA:247245 |
| Cryptococcosis |
|
Hydrocephalus |
ORPHA:1546 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus |
ORPHA:91350 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus |
OMIM:175780 |
