| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Split-Hand/Foot Malformation 1 |
|
Cleft palate, Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad... |
OMIM:183600 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, High palate, Radial deviation of the thumb, Myelomeningocele, 3-4 finger syndactyly... |
ORPHA:2437 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
| Hunter-Macdonald Syndrome |
|
Metatarsus adductus, 2-3 toe syndactyly, Bicuspid aortic valve, Mitral valve prolapse, Hypertensi... |
OMIM:611962 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Polydactyly, Abnormal heart morphology, Abnormality of the neck, Stillbirth, Syndac... |
ORPHA:294975 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Cutaneous finger syndactyly, Myelomeningocele, Split hand, Hydrocephalus, Spina bifida occulta, S... |
OMIM:183802 |
| Mend Syndrome |
|
2-3 toe syndactyly, Cleft palate, High palate, Long fingers, Abnormal heart morphology, Long neck... |
ORPHA:401973 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
| Melnick-Needles Syndrome |
|
Omphalocele, Tibial bowing, Short clavicles, Mitral valve prolapse, Talipes equinovarus, Hypoplas... |
OMIM:309350 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot |
OMIM:190680 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short distal phalanx of finger... |
ORPHA:1113 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Cleft palate, Split hand, Split ... |
DECIPHER:46 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate, Toe syndactyly, Split foot, Split hand |
OMIM:183700 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Toe syndactyly, Hallux valgus, Tubular metacarpal bones, High palate, Camptodactyly of 2nd-5th fi... |
OMIM:211910 |
| Split-Hand/Foot Malformation 2 |
|
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptoda... |
OMIM:211960 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart, Split foot |
OMIM:601348 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Hypoplastic iliac wing, Metaphyseal widening, Macroglossia, Hypoplastic acetabulae,... |
OMIM:253200 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Triphalangeal thumb, Phocomelia, Atrioventricular canal defect, Atriov... |
ORPHA:392 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Cleft palate, Anencephaly, Ectopic anus, Aplasia/Hypoplasia of the rad... |
ORPHA:2476 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Metatarsus adductus, Broad palm, High palate, Long neck, Down-sloping shoulders, Short foot, Synd... |
OMIM:227330 |
| Mosaic Trisomy 20 |
|
Limited pronation/supination of forearm, Ventricular septal defect, Cleft palate, Dysplastic tric... |
ORPHA:1724 |
| Ring Chromosome 4 Syndrome |
|
Abnormality of the upper limb, Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius |
ORPHA:1447 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
| Acrorenal Syndrome |
|
Abnormality of the ulna, Cleft palate, Aplasia/Hypoplasia of the radius, Split hand, Abnormality ... |
ORPHA:971 |
| Tetramelic Monodactyly |
|
Foot monodactyly, Hand monodactyly, Split foot, Split hand |
OMIM:187510 |
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split hand, Split foot, Tapered finger |
OMIM:220600 |
| Cooks Syndrome |
|
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand |
ORPHA:1487 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand |
OMIM:225280 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Duodenal atresia, Patent ductus arteriosus, Finger syndactyly, Iris coloboma, Campto... |
ORPHA:2092 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndac... |
ORPHA:3329 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Cervical cord compression, Intestinal pseudo-obstruction, Macroglossia, Inguinal he... |
OMIM:309900 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split hand, Brachyda... |
ORPHA:1406 |
| Occipital Horn Syndrome |
|
Short clavicles, High palate, Capitate-hamate fusion, Orthostatic hypotension, Genu valgum, Long ... |
OMIM:304150 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Hand monodactyly, Split foot, Split hand |
OMIM:183800 |
| Postaxial Tetramelic Oligodactyly |
|
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger |
ORPHA:2730 |
| Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
|
Split foot, Split hand |
OMIM:129810 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Split-Hand And Split-Foot With Hypodontia |
|
Split hand, Split foot |
OMIM:183500 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
High palate, Large hands, Arachnodactyly, Long neck, Hydrocephalus |
OMIM:617011 |
| Moebius Syndrome |
|
Dysphagia, High palate, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Bifid uvula,... |
OMIM:157900 |
| Mmep Syndrome |
|
Ventricular septal defect, Triphalangeal thumb, Split foot |
ORPHA:3434 |
| Acalvaria |
|
Omphalocele, Cleft palate, Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial hand polydac... |
ORPHA:945 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
High palate, Hammertoe, Split hand, Hypotrophy of the small hand muscles, Ulnar claw |
OMIM:607684 |
| 2Q31.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Abnormality of the ulna, Cleft palate, Finger syndactyly, Iris coloboma, Ca... |
ORPHA:251014 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Cleft palate, Polydactyly, Short 5th finger, Small placenta, Syndactyly, Clinodactyly of the 5th ... |
ORPHA:397590 |
| Otofaciocervical Syndrome 1 |
|
Scapular winging, Down-sloping shoulders, Long neck |
OMIM:166780 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
High palate, Finger syndactyly, Long neck, Down-sloping shoulders, Short foot, Clinodactyly of th... |
ORPHA:1974 |
| Hirsutism, Skeletal Dysplasia, And Mental Retardation |
|
Coxa valga, Down-sloping shoulders, Long neck |
OMIM:142625 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Arrhinencephaly, Truncus arteriosus, Phocomelia, Aplastic clavicle, Abnormality of ... |
ORPHA:2538 |
| Anonychia-Ectrodactyly |
|
Aplasia of metacarpal bones, Split hand |
OMIM:106900 |
| Phocomelia, Schinzel Type |
|
Fibular aplasia, Meningocele, High, narrow palate, Radial bowing, Hand oligodactyly, Cleft palate... |
ORPHA:2879 |
| Mucolipidosis Ii Alpha/Beta |
|
Talipes equinovarus, Splenomegaly, Short long bone, Flat acetabular roof, Umbilical hernia, Carpa... |
OMIM:252500 |
| Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate, Split hand |
OMIM:129830 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, High, narrow palate, Cleft palate, Triphalangeal thumb, Synostosis of carpal b... |
ORPHA:957 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Split hand, Hammertoe |
OMIM:605726 |
| Trisomy 13 |
|
High, narrow palate, Ventricular septal defect, Cleft palate, Cystic hygroma, Patent ductus arter... |
ORPHA:3378 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Cleft palate, Webbed neck, Split hand, Finger syndactyly, Micromelia, Brachydactyly |
ORPHA:2145 |
| Adams-Oliver Syndrome |
|
Portal hypertension, Esophageal varix, Abnormality of the upper limb, Pulmonary arterial hyperten... |
ORPHA:974 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand musc... |
ORPHA:399086 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Cleft palate, Radial cl... |
ORPHA:93322 |
| Opitz-Kaveggia Syndrome |
|
Pyloric stenosis, Cleft palate, Joint contracture of the hand, Syndactyly, Hydrocephalus, Broad h... |
OMIM:305450 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Cleft palate, Lobar holoprosencephaly, Split hand |
ORPHA:2117 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle weakness, Hand muscle atrophy, Split hand |
ORPHA:100998 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Split hand, Hammertoe |
OMIM:118300 |
| Limb Defects, Distal Transverse, With Mental Retardation And Spasticity |
|
Split hand |
OMIM:246555 |
| Fatco Syndrome |
|
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... |
ORPHA:2492 |
| Thanatophoric Dysplasia Type 1 |
|
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... |
ORPHA:1860 |
| Eem Syndrome |
|
Ectrodactyly, Finger syndactyly |
ORPHA:1897 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Split hand, Talipes equinovarus, Hammertoe |
OMIM:604563 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot |
ORPHA:1122 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Ulnar claw, Split hand |
OMIM:606595 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal upper limb amyotrophy, Split hand, Hammertoe |
OMIM:614455 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Spina bifida occulta a... |
OMIM:102510 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Cleft palate, Ectopic anus, Webbed neck, Anal atresia, Spina bifida, L... |
ORPHA:2345 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
| Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Ulnar claw, Split hand, Hammertoe |
OMIM:118220 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Distal upper limb muscle weakness, Split hand, Upper limb amyotrophy, Hammertoe |
ORPHA:99950 |
| Jackson-Weiss Syndrome |
|
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... |
ORPHA:1540 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Talipes equinovarus, Split hand |
OMIM:607831 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, High palate, Arachnodactyly, Long neck |
ORPHA:457359 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Ulnar claw, Split hand, Hammertoe |
OMIM:145900 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, Split hand |
OMIM:610099 |
| Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
|
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... |
OMIM:106990 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Cleft palate, Camptodactyly, Split hand |
OMIM:246560 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Rocker bottom foot, Talipes equinovarus, Hand clenching, Neonatal death, Hip dysplas... |
OMIM:611890 |
| Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Abnormal intestine morphology, Ectopia cordis, Cleft palate, Lens su... |
ORPHA:2369 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... |
OMIM:609945 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Split hand |
OMIM:607706 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Cleft palate, Joint contracture of the hand, Bifid uvula, Split hand, Syndactyly, ... |
OMIM:603543 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Toe syndactyly, Ventricular septal defect, Truncus arteriosus, Cleft palate, Mitra... |
ORPHA:2008 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Split hand |
OMIM:617882 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Triphalangeal thumb, Abnormal aortic valve morphology, Atrioventricular ca... |
ORPHA:1120 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Split hand |
OMIM:610127 |
| Alopecia-Intellectual Disability Syndrome |
|
Brachydactyly, Split hand |
ORPHA:2850 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Split hand |
OMIM:616688 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Dysphagia, Split hand |
OMIM:614707 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Ulnar claw, Split hand, Hammertoe |
OMIM:118200 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Hand muscle weakness, Talipes equinovarus, Split hand, Intrinsic hand muscle atrophy, Proximal mu... |
ORPHA:101097 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad distal phalanx of the... |
OMIM:120400 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... |
ORPHA:2878 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft palate, Clinodactyly, Ectrodactyly, Iris coloboma |
OMIM:147950 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
| Dermatoosteolysis, Kirghizian Type |
|
Joint contracture of the hand, Split hand |
OMIM:221810 |
| Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
| Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radi... |
ORPHA:1335 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Broad thumb, Finger syndactyly, Hydrocephalus, Postaxial fo... |
ORPHA:380 |
| Mucopolysaccharidosis Type 1 |
|
Hypertrophic cardiomyopathy, Abnormality of epiphysis morphology, Abnormal aortic valve morpholog... |
ORPHA:579 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Isomerism, Proximal placement of thumb, Absent radius, Anal atresi... |
OMIM:314390 |
| Isolated Split Hand-Split Foot Malformation |
|
Aniridia, Split hand, Absent hand, Finger syndactyly, Oligodactyly |
ORPHA:2440 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Irregular epiphyses, Small epiphyses, Delayed phalangeal epiphyseal ossification, Flat capital fe... |
OMIM:603546 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... |
OMIM:239850 |
| Poland Syndrome |
|
Dextrocardia, Abnormality of the ulna, Cone-shaped epiphysis, Aplasia/Hypoplasia of the thumb, Ap... |
ORPHA:2911 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Split hand |
ORPHA:168486 |
| Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Toe syndactyl... |
ORPHA:1507 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Cleft palate, Short metatarsal, Midclavicular hypoplasia, Iris coloboma, Foot polyda... |
OMIM:305600 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Cleft palate, Talipes equinovarus, Absent proximal finger flexion creases, Promi... |
ORPHA:2839 |
| Wahab Syndrome |
|
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... |
OMIM:615170 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, High palate, Metaphyseal irregularity, Cardiomegaly, Splenomegaly, Hydrocephalus, C... |
OMIM:269920 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Perineal fistula, Rectovaginal fistula, Hypoplasia of the radius, Anal atresia, Rectal atresia, H... |
ORPHA:3016 |
| Schisis Association |
|
Omphalocele, Cleft palate, Anencephaly, Anal atresia, Spina bifida, Tracheoesophageal fistula, Mi... |
ORPHA:63862 |
| Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Patent ductus arteriosus, Finger syndactyly, Ge... |
ORPHA:65759 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Ulnar claw, Split hand, Hammertoe |
OMIM:214400 |
| Renpenning Syndrome |
|
High, narrow palate, Cleft palate, Heterotaxy, Iris coloboma, Anal atresia, Abnormal thumb morpho... |
ORPHA:3242 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Broad metatarsal, Interphalangeal joint contracture of finger, Widened metacarpal shaft, Metatars... |
OMIM:259600 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Fi... |
ORPHA:958 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/Hypoplasia of the phalanges of the toes, Occipital meningocele, Phocomelia, Aplastic pubi... |
OMIM:276820 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Hand muscle weakness, Hand muscle atrophy |
OMIM:607641 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Toe syndactyly, Hallux valgus, High palate, Cubitus valgus, Spina bifida, Short distal phalanx of... |
ORPHA:1327 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Aplasia/Hypoplasia of the radius, Gastroschis... |
ORPHA:818 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Polydactyly |
OMIM:605231 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... |
OMIM:610140 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd metacarpal, Short 5th metacarpal, Tapered finger, Short 4th toe, Split hand, Intrinsic ... |
OMIM:618569 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Mend Syndrome |
|
2-3 toe syndactyly, High palate, Polydactyly, Long fingers, Overlapping fingers, Hydrocephalus, A... |
OMIM:300960 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the thum... |
ORPHA:1908 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect, Anal atresia |
OMIM:119580 |
| Thalidomide Embryopathy |
|
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... |
ORPHA:3312 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the ulna, Cleft palate, High palate, Aplasia/Hypoplasia of the ... |
ORPHA:1307 |
| Aminopterin Syndrome Sine Aminopterin |
|
Cleft palate, High palate, Umbilical hernia, Joint contracture of the hand, Arachnodactyly, Ingui... |
OMIM:600325 |
| Timothy Syndrome |
|
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... |
OMIM:601005 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Talipes equinovarus, Split hand |
OMIM:604168 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Cleft palate, Double outlet right ventricle, Pulmonic stenosis, Anal a... |
OMIM:220210 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Cleft palate, High palate, Gastroschisis, Adactyly, Aplasia/Hypopl... |
ORPHA:989 |
| Triploidy |
|
Meningocele, Omphalocele, Hepatomegaly, Cleft palate, Holoprosencephaly, Macroglossia, Intestinal... |
ORPHA:3376 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Cleft palate, Chorioretinal coloboma, Ulnar deviation of finger, Iris coloboma, A... |
ORPHA:921 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Weakness of the intrinsic hand muscles, Short third metatarsal, Split hand, Intrinsic hand muscle... |
ORPHA:324442 |
| Caudal Duplication |
|
Omphalocele, Myelomeningocele, Spinal cord lesion, Spina bifida, Intestinal duplication |
ORPHA:1756 |
| Anophthalmia Plus Syndrome |
|
Bilateral cleft lip and palate, Cleft palate, Iris coloboma, Deviation of finger, Spina bifida |
ORPHA:1104 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Dysphagia, Abnormal upper motor neuron morphology |
OMIM:611637 |
| Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia, Spina bifida, Tracheoesophageal fistula |
ORPHA:3169 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Hypertrophic cardiomyopathy, Broad hallux phalanx, Low posterior hairline, Cardiomegaly, Abnormal... |
ORPHA:1517 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Craniorachischisis |
|
Omphalocele, Sirenomelia, Myelomeningocele, Anencephaly, Bifid sternum, Anal atresia, Cervical sp... |
ORPHA:63260 |
| Alg3-Cdg |
|
High palate, Neural tube defect, Macroglossia, Abnormality of limb bone morphology, Cardiomyopath... |
ORPHA:79321 |
| Frontal Encephalocele |
|
Spina bifida, Hydrocephalus |
ORPHA:1931 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Aortic regurgitation, Spl... |
OMIM:252600 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
| Wolf-Hirschhorn Syndrome |
|
Abdominal situs inversus, Cleft palate, Talipes equinovarus, Low posterior hairline, Arachnodacty... |
ORPHA:280 |
| Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
| Acrorenal Syndrome, Autosomal Recessive |
|
Radial deviation of finger, Split foot, Clinodactyly, Split hand |
OMIM:201310 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Polydactyly, Tetralogy of Fallot, Partial duplication of thumb phalanx, Cent... |
OMIM:617926 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent ductus arteriosus, Tricuspid... |
OMIM:618652 |
| Microphthalmia, Syndromic 8 |
|
Cleft palate, Split foot |
OMIM:601349 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Abnormal EKG, Abnormal left ventricular... |
ORPHA:2041 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Split hand, Duodenal atresia, Phocomelia |
ORPHA:3004 |
| Mosaic Trisomy 9 |
|
Cleft palate, Talipes equinovarus, Patent ductus arteriosus, Camptodactyly of finger, Finger clin... |
ORPHA:99776 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Joint contracture of the hand, Talipes equinovarus |
OMIM:611067 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... |
ORPHA:157801 |
| Juvenile Primary Lateral Sclerosis |
|
Dysphagia, Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Metaphyseal cupping, Pulmonary arterial hypertension, Cardiomegaly, Iliac crest ser... |
OMIM:613320 |
| 15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Abnormal heart morphology, Small hand, Abnormality of toe, Proximal placement o... |
ORPHA:94065 |
| Iniencephaly |
|
Omphalocele, Anencephaly, Rocker bottom foot, Talipes equinovarus, Holoprosencephaly, Myelomening... |
ORPHA:63259 |
| Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Right bundle branch block, Cardiomegaly, Clubbi... |
ORPHA:439 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus, Congestive heart failure |
OMIM:300886 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Abnormal QRS complex, Abnormality of blood circulation, ... |
ORPHA:860 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Syndactyly, Hydrocephalus, Polydactyly |
OMIM:602501 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Iris coloboma, Syndactyly, Coloboma, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Cleft palate, Anencephaly, Abnormality of the upper limb,... |
ORPHA:3380 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Cleft palate, Anencephaly, Polydactyly, Bowing of the long bones, Postaxial hand pol... |
OMIM:603194 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Microglossia, Cardiomegal... |
OMIM:253250 |
| Wolf-Hirschhorn Syndrome |
|
Cleft palate, Talipes equinovarus, Iris coloboma, Hydrocephalus, Low posterior hairline, Radiouln... |
OMIM:194190 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Cardiomegaly, Congestive heart failure |
OMIM:618654 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hallux valgus, Bicuspid aortic valve, Cleft palate, Talipes equinovarus, Spatulate thumbs, Broad ... |
OMIM:245600 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Ventricular septal defect, Stiff neck, High palate, Adducted thumb, Talipes equinova... |
OMIM:617022 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Cleft palate, High palate, Postaxial polydactyly, Tongue nodules, Radial deviatio... |
OMIM:277170 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Postaxial polydactyly |
OMIM:613094 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... |
OMIM:274000 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft lip and palate, Omphalocele, Ventricular septal defect, Foot oligodactyly, Holopr... |
OMIM:601357 |
| Adams-Oliver Syndrome 5 |
|
Esophageal varix, Right ventricular hypertrophy, Pulmonary arterial hypertension, Inguinal hernia... |
OMIM:616028 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Large hands, Coarse metaphyseal trabecularization, Brachydactyly, Spina bi... |
ORPHA:3219 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Patent ductus arteriosus, Protruding tongue, Broad neck, Syndactyly, A... |
OMIM:300963 |
| Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Abnormal lower motor ... |
OMIM:602433 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Double outlet right ventricle, Heter... |
ORPHA:3426 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Broad hallux phalanx, Broad thumb, Finger syndactyly, Exencephaly, Preaxial hand polydactyly |
ORPHA:2211 |
| Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, High palate, Hypoplastic scapulae, Hypoplasia of the radius, Split hand, Foot pol... |
OMIM:200980 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy, Absent inner dynein arms, Abnormal axonemal organization of r... |
OMIM:613807 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Low posterior hairline, Short neck, Chorioretinal coloboma, Cervical spina bifida |
OMIM:600122 |
| Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... |
OMIM:617927 |
| Jacobsen Syndrome |
|
Pyloric stenosis, Broad hallux phalanx, Duodenal atresia, Finger syndactyly, Iris coloboma, Toe c... |
ORPHA:2308 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Craniofaciofrontodigital Syndrome |
|
Pyloric stenosis, Bicuspid aortic valve, Ventricular septal defect, Palmoplantar cutis laxa, Peri... |
ORPHA:363705 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Adducted thumb, Decreased f... |
OMIM:616897 |
| Chiari Malformation Type Ii |
|
Dysphagia, Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus |
OMIM:207950 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Eec Syndrome |
|
Toe syndactyly, Cleft palate, Aplasia/Hypoplasia of the thumb, Xerostomia, Proximal placement of ... |
ORPHA:1896 |
| Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polydactyly, Situs inversus totalis, Mesoaxial polydactyly, Postaxial foot polydact... |
OMIM:615994 |
| Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Short... |
OMIM:607323 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Polydactyly |
OMIM:615985 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Retinal coloboma, Iris coloboma, B... |
ORPHA:508498 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Cleft palate, Syndactyly, Abnormal pelvis bone morphology, Short long ... |
ORPHA:1505 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Joint con... |
OMIM:113000 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... |
ORPHA:85451 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Hand muscle atr... |
OMIM:205100 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... |
ORPHA:2378 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Polydactyly, Talipes equinovarus, Postaxial hand polydactyly, Short neck |
OMIM:613885 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Tarsal synostosis, Omphalocele, Cleft palate, Myelomeningocele, Bowing of the lo... |
ORPHA:90652 |
| Hydrolethalus Syndrome 2 |
|
Cleft palate, Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus |
OMIM:614120 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly, Hydrocephalus |
ORPHA:858 |
| Pelger-Huet Anomaly |
|
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Ventricular sept... |
OMIM:169400 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Abnormality of long bone morphol... |
ORPHA:52430 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral valve prolapse, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Abnormal thum... |
ORPHA:324410 |
| Ivic Syndrome |
|
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Patent ductus arteriosus, ... |
OMIM:147750 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Inguinal hernia, Cystic hygroma, Short distal phalanx o... |
OMIM:618143 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Ventricular septal defect, Hydranencephaly, Cleft palate, Myelomeningocele, Webbed n... |
ORPHA:1393 |
| Greenberg Dysplasia |
|
Omphalocele, Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Hepatosplenomeg... |
OMIM:215140 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Telangiectasia, Polydactyly, Abnormal heart morphology, Inguinal hernia, Hepatosple... |
ORPHA:93400 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cleft palate, 3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, 4-5 finger ... |
ORPHA:158687 |
| Orofaciodigital Syndrome Viii |
|
Cleft palate, High palate, Polydactyly, Syndactyly, Short tibia |
OMIM:300484 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Basal Cell Nevus Syndrome |
|
Cardiac rhabdomyoma, Irregular ossification of hand bones, Cleft palate, Polydactyly, Palmar pits... |
OMIM:109400 |
| Acrocallosal Syndrome |
|
Cleft palate, Finger syndactyly, Coloboma, Umbilical hernia, Toe syndactyly, High palate, Anal at... |
OMIM:200990 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar bowing, Cystic hygroma, Intestina... |
OMIM:617866 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:614373 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Pericardial effusion, Ventricular hypertrophy... |
OMIM:115197 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Splenomegaly, Sandal gap, Tethered cord, Spinal dysraphism |
OMIM:612918 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Gastroesophageal reflux, Postaxial polydactyly |
OMIM:612913 |
| Complete Atrioventricular Septal Defect |
|
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... |
ORPHA:1329 |
| Trisomy 20P |
|
Ectopic anus, Low posterior hairline, Inguinal hernia, Finger syndactyly, Spina bifida, Camptodac... |
ORPHA:261318 |
| Cloacal Exstrophy |
|
Omphalocele, Myelomeningocele, Talipes equinovarus, Absent foot, Intestinal malrotation, Anal atr... |
ORPHA:93929 |
| Mohr Syndrome |
|
Cleft palate, High palate, Tongue nodules, Bilateral postaxial polydactyly, Metaphyseal irregular... |
OMIM:252100 |
| Grange Syndrome |
|
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Syndacty... |
ORPHA:79094 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... |
ORPHA:2756 |
| Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, High palate, Polydactyly, Webbed neck, Atrial septal defect, Patent fo... |
OMIM:618950 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Neu-Laxova Syndrome 1 |
|
Cleft palate, Joint contracture of the hand, Small placenta, Finger syndactyly, Patent ductus art... |
OMIM:256520 |
| 3P25.3 Microdeletion Syndrome |
|
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Postaxial polydac... |
ORPHA:435638 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology, Azoospermia |
OMIM:613724 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/Hypoplasia of the phalan... |
ORPHA:1112 |
| Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus, Esophageal varix, Tricuspid regurgitation, Syndact... |
OMIM:616589 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, High palate, Postaxial polydactyly, Patent ductus arteriosus, Preaxial... |
OMIM:618142 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Cleft palate, Toe syndactyly, Split hand, Finger syndactyly |
ORPHA:1300 |
| Nail-Patella Syndrome |
|
Cleft palate, Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Iliac horns, Tricep... |
OMIM:161200 |
| Curry-Jones Syndrome |
|
Cutaneous finger syndactyly, Coloboma, Broad thumb, Intestinal malrotation, Anal stenosis, Syndac... |
OMIM:601707 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Hepatomegaly, Spina bifida |
ORPHA:99742 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Phocomelia, Hypoplasia of the radius, Patent ductus arteriosus, Syndactyly, ... |
OMIM:142900 |
| Hartsfield Syndrome |
|
Cleft palate, Syndactyly, Ectrodactyly, Lobar holoprosencephaly |
OMIM:615465 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... |
OMIM:617102 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Congestive heart f... |
ORPHA:615 |
| Endocrine-Cerebroosteodysplasia |
|
Cleft palate, Polydactyly, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers... |
OMIM:612651 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Polydactyly, Camptodactyly |
OMIM:614815 |
| Orofaciodigital Syndrome I |
|
Hypertension, Cleft palate, High palate, Polydactyly, Myelomeningocele, Abnormal heart morphology... |
OMIM:311200 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hallux valgus, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly,... |
OMIM:602782 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Telangiectasia, Hepatocellular carcinoma, Azoospermia, Cardiomegaly, Cardiomyopathy... |
OMIM:235200 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Neural tube defect |
OMIM:600776 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Perineal fistula, Genu varum, Cleft palate, Rectovaginal fistula, Bifid uvul... |
ORPHA:2753 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Cleft palate, Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial han... |
OMIM:607361 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
| Yunis-Varon Syndrome |
|
Pyloric stenosis, Arrhinencephaly, Short middle phalanx of finger, Redundant neck skin, Syndactyl... |
ORPHA:3472 |
| D-Bifunctional Protein Deficiency |
|
Hepatomegaly, High palate, Talipes equinovarus, Hammertoe, Split hand, Splenomegaly |
OMIM:261515 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Cleft palate, High palate, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of th... |
OMIM:614091 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Gastrointestinal dysmotility, Abnormal heart morphology, Syringomyelia, Hip dysplasi... |
ORPHA:531151 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Epiphyseal stippling, Cardiomegaly, Cardiomyopathy, Splenomegaly, Inguinal hernia |
OMIM:256550 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Cleft palate, Triphalangeal thumb, Duoden... |
ORPHA:84 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Absence of Stensen duct, Cleft palate, Rectovaginal fistula, Xerostomia, Split ha... |
OMIM:129900 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Mitral atresia, Si... |
OMIM:616749 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Congestive heart failure, Short fourth metatarsal, Arrhythmia |
OMIM:266500 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, High palate, Antenatal intracerebral hemorrhage, Tapered fi... |
OMIM:608836 |
| Joubert Syndrome 23 |
|
Coloboma, Polydactyly |
OMIM:616490 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... |
OMIM:615986 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, High, narrow palate, Hypertension, Aortic regurgitation, Cardiomegaly, Ara... |
ORPHA:91387 |
| Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
| Primary Lateral Sclerosis, Juvenile |
|
Dysphagia, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology, Dysphagia, Abnormal lower motor neuron morphology, Abnormal up... |
ORPHA:275872 |
| Hamamy Syndrome |
|
Dysphagia, High palate, Mitral regurgitation, Tapered finger, Long fingers, Webbed neck, Down-slo... |
OMIM:611174 |
| Bardet-Biedl Syndrome 19 |
|
Polydactyly |
OMIM:615996 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Hepatosplenomegaly, Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Polydactyly, Esophageal atresia, Complete duplication of thumb phalanx, Fi... |
ORPHA:59315 |
| Mullegama-Klein-Martinez Syndrome |
|
Cleft palate, Polydactyly, Hypoplastic left heart, Abnormal cardiac septum morphology, Clinodacty... |
OMIM:301022 |
| Joubert Syndrome 14 |
|
Coloboma, Hypertension, Hydrocephalus, Postaxial polydactyly |
OMIM:614424 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated jugular venous pressure, Car... |
ORPHA:465508 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Cleft palate, Mitral stenosis, Bifid uvula, Atrial septal defect, Hypoplastic left heart, Tethere... |
OMIM:617660 |
| Adult Syndrome |
|
Toe syndactyly, Split foot, Split hand |
OMIM:103285 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Broad hallux, Postaxial polydactyly |
OMIM:617127 |
| Acro-Renal-Ocular Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... |
ORPHA:959 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Congestive h... |
OMIM:212140 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cleft palate, Patent ductus arteriosus, Clubbing, Split hand, Tetralog... |
OMIM:600460 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Ventricular septal defect, Postaxial polydactyly, Hypoplasia of the radius, Syndacty... |
OMIM:617895 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... |
ORPHA:57777 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Joubert Syndrome 16 |
|
Coloboma, Polydactyly |
OMIM:614465 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle weakness, Hammertoe, Joint contracture of the hand, Split hand, Hyporeflexia of upper... |
ORPHA:90658 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Ventricular septal defect, Inflammation of the large intestine, Esophageal varix, P... |
OMIM:614576 |
| Hypoglossia-Hypodactylia |
|
Adactyly, Microglossia, Aglossia, Split hand |
OMIM:103300 |
| Meckel Syndrome, Type 1 |
|
Omphalocele, Cleft palate, Patent ductus arteriosus, Splenomegaly, Foot polydactyly, Iris colobom... |
OMIM:249000 |
| Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Cleft palate, High palate, Hamartoma of tongue, Postaxial polydactyly, Short fing... |
OMIM:258860 |
| Vater/Vacterl Association |
|
Patent urachus, Ventricular septal defect, Triphalangeal thumb, Esophageal atresia, Hypoplasia of... |
OMIM:192350 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly, Mitral regurgitation |
OMIM:618052 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
High palate, Cardiomegaly, Arachnodactyly, Increased arm span, Thin metatarsal cortices, Slender ... |
ORPHA:2463 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Absent tibia, Cleft palate, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Me... |
OMIM:613091 |
| Vacterl With Hydrocephalus |
|
Arrhinencephaly, Esophageal atresia, Hypoplasia of the radius, Anal atresia, Hip dislocation, Spi... |
ORPHA:3412 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Mitral regurgitation, Postaxial polydactyly, Atrial septal defect, Hyd... |
OMIM:603387 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cleft palate, Anencephaly, Postaxial polydactyly, Retinal coloboma, Aplastic clavicle, Preaxial p... |
OMIM:616546 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Absence of Stensen duct, Cleft palate, Xerostomia, Split hand, Ectrodactyly, Spli... |
OMIM:604292 |
| Meckel Syndrome, Type 10 |
|
Cleft palate, Anencephaly, Postaxial polydactyly |
OMIM:614175 |
| Acromelic Frontonasal Dysostosis |
|
Cleft palate, Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly |
OMIM:603671 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Aganglionic megacolon, Spina bifida, Cleft palate |
ORPHA:894 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Hiatus hernia, Abnormality of pelvic girdle bone morphology, Gastroesophageal reflux, Carpal bone... |
OMIM:601162 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Pfeiffer Syndrome |
|
High palate, Elbow ankylosis, Finger syndactyly, Syndactyly, Hydrocephalus, Shortening of all mid... |
OMIM:101600 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Hepatomegaly, Syncope, Paroxysmal atrial fibrillation, Atr... |
ORPHA:1677 |
| 22Q11.2 Deletion Syndrome |
|
Arrhinencephaly, Cleft palate, Truncus arteriosus, Talipes equinovarus, Patent ductus arteriosus,... |
ORPHA:567 |
| Diets-Jongmans Syndrome |
|
Ventricular septal defect, Duodenal atresia, Heterotaxy, Inguinal hernia, Hip dysplasia, Umbilica... |
OMIM:618846 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High palate, Atrioventricular can... |
ORPHA:453499 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... |
OMIM:619051 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Morphological abnormality of the gas... |
ORPHA:404440 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Abnormality of the hand |
OMIM:221770 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Omphalocele, Ventricular septal defect, Abdominal situs inversus, Mitral atresia, D... |
OMIM:306955 |
| Tarp Syndrome |
|
Cleft palate, High palate, Talipes equinovarus, Postaxial polydactyly, Tongue nodules, Hypoplasia... |
OMIM:311900 |
| Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Stillbirth, Duplication of phalanx of hallux, Syndactyly, Atrial septa... |
OMIM:263630 |
| Pagod Syndrome |
|
Meningocele, Omphalocele, Situs inversus totalis, Hypoplastic left heart, Spina bifida, Sudden ca... |
ORPHA:991 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Webbed neck, Patent... |
OMIM:616894 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Ventricular septal defect, Cleft palate, Mesoaxial hand polydactyly, Oligodactyly... |
OMIM:146510 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Hypertension, High palate, Chorioretinal coloboma, Telangiectasia, Metaphyse... |
OMIM:234100 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Postaxial polydactyly |
OMIM:617757 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... |
ORPHA:75565 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Dysphagia, Reduced ejection fraction, Abnormal mitral valve morphology, Abnormal ao... |
ORPHA:581 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Chorioretinal coloboma, Iris coloboma, Preaxial polydactyly |
ORPHA:2921 |
| Posterior Meningocele |
|
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Limitation of neck motion, H... |
ORPHA:268810 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Reduced ejection fraction, Cardiomegaly, Sudden cardia... |
OMIM:201475 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
High palate, Mitral valve prolapse, Cubitus valgus, Congenital hip dislocation, Patent ductus art... |
OMIM:104350 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Hypoplastic ilia, Lens subluxation, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis... |
ORPHA:85167 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Dysphagia, Reduced ejection fraction, Right ventricular hypertrophy, Cardiomegaly, Proximal muscl... |
ORPHA:268 |
| Adult Syndrome |
|
Toe syndactyly, Split foot, Finger syndactyly |
ORPHA:978 |
| 20P13 Microdeletion Syndrome |
|
Clinodactyly, Polydactyly, Brachydactyly, Finger syndactyly |
ORPHA:313781 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Aganglionic megacolon, Oligodactyly, Camptodactyly of finger, Abnormal pelvis bone m... |
ORPHA:2273 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Cardiomegaly, Gastrointestinal dysmotility |
ORPHA:391428 |
| Mosaic Trisomy 16 |
|
Ventricular septal defect, Meckel diverticulum, Abnormal heart morphology, Short forearm, Patent ... |
ORPHA:1708 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia |
OMIM:600649 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Intestinal atresia, Tracheoesophageal fistula, Abnormal lower... |
ORPHA:93941 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Abnormal heart morphology, Absent tibia, Polydactyly |
OMIM:188740 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Meningocele, Redundant... |
ORPHA:397715 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Arrhythmia |
ORPHA:42 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Heart murmur |
ORPHA:99931 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tapered finger, Atrioventricular canal defect, Torticollis, Bifid uvula, Patent ductus arteriosus... |
OMIM:619480 |
| Carpenter Syndrome 2 |
|
Dextrocardia, Cutaneous finger syndactyly, High palate, Talipes equinovarus, Aplasia of the middl... |
OMIM:614976 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Postaxial polydactyly, Atrioventricular canal defect, Lim... |
OMIM:619142 |
| Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Abnormal heart morphology, Cubitus valgus, Cardiomegaly, Short neck, Hyp... |
OMIM:114620 |
| Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Wolff-Par... |
OMIM:300257 |
| Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrophy, Cardiom... |
ORPHA:555874 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cleft palate, Atrial fibrillation, Ventricular tachycard... |
ORPHA:137675 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Hypertension, High palate, Aganglionic megacolon, Postaxial polydactyly, Foo... |
OMIM:209900 |
| Meier-Gorlin Syndrome 7 |
|
Complete atrioventricular canal defect, 2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Ve... |
OMIM:617063 |
| Lumbar Syndrome |
|
Ectopic anus, Myelomeningocele, Anal atresia, Spina bifida, Bladder exstrophy |
ORPHA:83628 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... |
OMIM:135750 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Arrhythmia |
OMIM:255120 |
| Amyotrophic Lateral Sclerosis 21 |
|
Dysphagia, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Abnormal lower motor n... |
OMIM:606070 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Hypertension, Cleft palate, High palate, Polydactyly, Rhizomelia, Cystic hygroma, P... |
OMIM:613610 |
| Joubert Syndrome 15 |
|
Polydactyly |
OMIM:614464 |
| Okamoto Syndrome |
|
Omphalocele, Ventricular septal defect, Primum atrial septal defect, Redundant neck skin, Polydac... |
ORPHA:2729 |
| Beck-Fahrner Syndrome |
|
High palate, Ventricular septal defect, Hip dysplasia, Cardiomegaly |
OMIM:618798 |
| Orofaciodigital Syndrome Type 6 |
|
Cleft palate, High palate, Hamartoma of tongue, Abnormal heart morphology, Tongue nodules, Mesoax... |
ORPHA:2754 |
| Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Abnormality of toe, Inguinal hernia, Abnormality of finger, Sand... |
ORPHA:404448 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Hydrocepha... |
OMIM:231005 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dysphagia, Abnormal upper motor neuron morphology |
OMIM:607694 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Left-to-right shunt, Esophageal varix, Neonatal death, Patent ductus arteriosus, Splenomegaly, Sy... |
OMIM:619534 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Cleft palate, Polydactyly, Duodenal atresia, Abnormal heart morphology, Joint contra... |
OMIM:247200 |
| Pseudoaminopterin Syndrome |
|
High palate, Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis of carpal bones, Slen... |
ORPHA:221120 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stippled calcificatio... |
OMIM:302960 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Complete atrioventricular canal defect, Cleft palate, Hamartoma of tongue, Postaxial polydactyly,... |
OMIM:617925 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Cleft palate, Talipes equinovarus, Bicuspid pulmonary valve, Joint contrac... |
OMIM:610168 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Congestive he... |
OMIM:261740 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus |
ORPHA:229 |
| Schinzel-Giedion Syndrome |
|
Dysphagia, Tibial bowing, Aganglionic megacolon, High palate, Neural tube defect, Macroglossia, A... |
ORPHA:798 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, High, narrow palate, Cardiomegaly, Cardiomyopathy, Heart block, Hydrocephalus, Abno... |
ORPHA:228308 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short greater sciatic notch, Cleft palate, Talipes equinovarus, Broad toe, Patent ductus arterios... |
OMIM:312870 |
| Mogs-Cdg |
|
Hepatomegaly, High palate, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Overla... |
ORPHA:79330 |
| Williams Syndrome |
|
Hallux valgus, Bicuspid aortic valve, Rectal prolapse, Abnormal gastric mucosa morphology, Abnorm... |
ORPHA:904 |
| Neu-Laxova Syndrome |
|
Cleft palate, Large hands, Bifid uvula, Spina bifida, Micromelia, Submucous cleft hard palate |
ORPHA:2671 |
| Stromme Syndrome |
|
Cleft palate, Duodenal atresia, Stillbirth, Jejunal atresia, Iris coloboma, Preaxial polydactyly,... |
OMIM:243605 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High, narrow palate, Talipes equi... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High, narrow palate, Talipes equi... |
ORPHA:352665 |
| Aicardi Syndrome |
|
Cleft palate, Proximal placement of thumb, Optic disc coloboma, Hepatoblastoma, Spina bifida, Hia... |
OMIM:304050 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral atresia, Low-output congestive heart failure, Single ventricle,... |
ORPHA:99125 |
| Fucosidosis |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Coxa valga |
OMIM:230000 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly... |
OMIM:615503 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Cleft palate, Aborted sudden car... |
OMIM:614921 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Perimembranous ventricular septal defect, Cardiomegaly, Pulm... |
ORPHA:1457 |
| Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Dysphagia, Abnormal upper motor neuron morphology, Atrophy of the s... |
ORPHA:35689 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Low-output congestive heart failure, Car... |
ORPHA:308552 |
| Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Abnorm... |
ORPHA:980 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology |
OMIM:263570 |
| Rubinstein-Taybi Syndrome 1 |
|
Radial deviation of thumb terminal phalanx, Patent ductus arteriosus, Syndactyly, Broad hallux, C... |
OMIM:180849 |
| Charge Syndrome |
|
Omphalocele, Arrhinencephaly, Absent tibia, Cleft palate, Dysplastic tricuspid valve, Duodenal at... |
OMIM:214800 |
| Bohring-Opitz Syndrome |
|
Cleft palate, Bilateral wrist flexion contracture, Cardiomegaly, Bradycardia, Fixed elbow flexion... |
ORPHA:97297 |
| Monosomy 9Q22.3 |
|
Polydactyly, Palmar pits, Cardiac fibroma, Hydrocephalus, Short neck, Umbilical hernia |
ORPHA:77301 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Cleft palate, Postaxial polydactyly, Rhizomelia, Patent ductus arteriosus, Preaxial ... |
OMIM:616300 |
| Tarp Syndrome |
|
Cleft palate, Rocker bottom foot, Postaxial polydactyly, Talipes equinovarus, Tongue nodules, Glo... |
ORPHA:2886 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Anomaly of lower limb diaphyses, Abnormal heart... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anomaly of lower limb diaphyses, Abnormal heart... |
ORPHA:363958 |
| Semilobar Holoprosencephaly |
|
Dysphagia, Cleft palate, High palate, Neural tube defect, Morphological abnormality of the gastro... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Dysphagia, Cleft palate, High palate, Neural tube defect, Morphological abnormality of the gastro... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Dysphagia, Cleft palate, High palate, Neural tube defect, Morphological abnormality of the gastro... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Dysphagia, Cleft palate, High palate, Neural tube defect, Morphological abnormality of the gastro... |
ORPHA:93924 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Cardiomegaly |
OMIM:618886 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Pyloric stenosis, Hallux valgus, Toe syndactyly, Ventricular septal defect, Polydactyly, Duodenal... |
ORPHA:464306 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Dysphagia, Neonatal death, Cardiomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:608013 |
| Neurofibromatosis, Type I |
|
Hypertension, Genu valgum, Spina bifida, Hydrocephalus, Tibial pseudarthrosis, Aqueductal stenosis |
OMIM:162200 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Abnormal heart morphology, High palate, Polydactyly |
ORPHA:314655 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Paucity of anterior horn motor neurons |
OMIM:253310 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| Degcags Syndrome |
|
Pyloric stenosis, Talipes equinovarus, Patent ductus arteriosus, Hepatosplenomegaly, Syndactyly, ... |
OMIM:619488 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Pyloric stenosis, Hallux valgus, Short 5th toe, Ventricular septal defect, Dysphagia, Polydactyly... |
ORPHA:268261 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Flexion contracture of toe, Hypoplastic scapulae, Macroglossia, Long... |
OMIM:256040 |
| Peters-Plus Syndrome |
|
Cleft palate, Retinal coloboma, Short metatarsal, Proximal placement of thumb, Patent ductus arte... |
OMIM:261540 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Hallux valgus, Ventricular septal defect, High, na... |
OMIM:300967 |
| Constricting Bands, Congenital |
|
Omphalocele, Ectopia cordis, Cleft palate, Talipes equinovarus, Gastroschisis, Syndactyly, Hand p... |
OMIM:217100 |
| Singleton-Merten Syndrome 1 |
|
Expanded metacarpals with widened medullary cavities, Talipes equinovarus, Hypoplastic distal rad... |
OMIM:182250 |
| Pallister-Hall Syndrome |
|
Arrhinencephaly, Polydactyly affecting the 4th finger, Cleft palate, Broad toe, Microglossia, Pat... |
ORPHA:672 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Cervical cord compression, Cardiac conduction abnormality, Syringomyelia, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Cervical cord compression, Cardiac conduction abnormality, Syringomyelia, ... |
ORPHA:353277 |
| Truncus Arteriosus |
|
Ventricular septal defect, Truncus arteriosus, Right ventricular hypertrophy, Abnormal heart morp... |
ORPHA:3384 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly, Wolff-Parkinson-White syndrome, Shortened... |
OMIM:232300 |
| Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Joubert Syndrome 17 |
|
Syndactyly, Polydactyly |
OMIM:614615 |
| Khan-Khan-Katsanis Syndrome |
|
Dysphagia, Postaxial polydactyly, Abnormal heart morphology, Clinodactyly, Patent ductus arterios... |
OMIM:618460 |
| Abetalipoproteinemia |
|
Hepatomegaly, Talipes equinovarus, Cardiomegaly, Steatorrhea, Congestive heart failure, Fat malab... |
ORPHA:14 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Congestive heart failure, Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, High palate, Macroglossia, Cardiomegaly, Patent ductus a... |
ORPHA:96191 |
| Exstrophy-Epispadias Complex |
|
Omphalocele, Abnormal heart morphology, Anal atresia, Spina bifida, Hydrocephalus, Abnormality of... |
ORPHA:322 |
| Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Cleft palate, Hamartoma of tongue, Postaxial polydactyly, Holoprosence... |
OMIM:615948 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Cleft palate, Hand oligodactyly, High palate, Phocomelia, Tetraphocome... |
OMIM:268300 |
| Japanese Encephalitis |
|
Stiff neck, Talipes equinovarus, Hyperintensity of MRI T2 signal of the spinal cord, Distal upper... |
ORPHA:79139 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Esophageal ... |
ORPHA:95430 |
| Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, High palate, Polydactyly, Macroglossia, Enlarged ovaries, Cardiomyopat... |
ORPHA:769 |
| Legius Syndrome |
|
Mitral valve prolapse, Polydactyly, Paroxysmal atrial tachycardia, Desmoid tumors, Pulmonic steno... |
ORPHA:137605 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Hepatomegaly, Polydactyly, Patent duct... |
ORPHA:17 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele |
OMIM:193500 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Macroglossia, Cardiomegaly, Left ventricula... |
ORPHA:365 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Beckwith-Wiedemann Syndrome |
|
Hypertrophic cardiomyopathy, Omphalocele, Hepatomegaly, Cleft palate, Macroglossia, Cardiomegaly,... |
ORPHA:116 |
| Kinsship Syndrome |
|
Polydactyly, Fibular hypoplasia, Dislocated radial head, Hip dislocation, Ankyloglossia, Mesomeli... |
OMIM:619297 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Sickle Cell Anemia |
|
