Agent Commons Collaborative Research

Congenital limb malformation

Identifiers
MONDO:0019054 Orphanet:68378
Part of
Developmental defect during embryogenesis

Subtypes

All diseases Rare only
Disease Subtypes
Arthrogryposis syndrome 97
Acrofacial dysostosis 17
Acrocephalosyndactyly 16
Heart-hand syndrome 7
Adams-Oliver syndrome 6
Cornelia de Lange syndrome 6
Hyperphosphatasia-intellectual disability syndrome 6
Rubinstein-Taybi syndrome 4
Familial clubfoot with or without associated lower limb anomalies 4
Multiple synostoses syndrome 4
Tibial aplasia-ectrodactyly syndrome 3
Duane-radial ray syndrome 2
EEC syndrome 2
Townes-Brocks syndrome 2
Caudal regression-sirenomelia spectrum 2
Proximal symphalangism 2
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 2
Tetraamelia-multiple malformations syndrome 2
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1
2q37 microdeletion syndrome
ADULT syndrome
Al-Gazali syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
Cenani-Lenz syndactyly syndrome
Cooks syndrome
EEM syndrome
Emery-Nelson syndrome
Fuhrmann syndrome
Gollop-Wolfgang complex
Hypoglossia-hypodactyly syndrome
IVIC syndrome
Karsch-Neugebauer syndrome
Keutel syndrome
Leri pleonosteosis
Mononen-Karnes-Senac syndrome
OSLAM syndrome
Poland syndrome
Say-field-Coldwell syndrome
Sugarman brachydactyly
TELO2-related intellectual disability-neurodevelopmental disorder
Absence deformity of leg-cataract syndrome
Absent radius-anogenital anomalies syndrome
Absent tibia-polydactyly-arachnoid cyst syndrome
Acromesomelic dysplasia 2B
Acropectoral syndrome
Aphalangy-syndactyly-microcephaly syndrome
Autosomal recessive amelia
Brachydactyly-arterial hypertension syndrome
Brachydactyly-preaxial hallux varus syndrome
Brachytelephalangy-dysmorphism-Kallmann syndrome
Camptodactyly syndrome, Guadalajara type 2
Camptodactyly-taurinuria syndrome
Cocoon syndrome
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Crossed polysyndactyly
Ectrodactyly-polydactyly syndrome
Extensor tendons of finger anomalies
Familial digital arthropathy-brachydactyly
Femoral-facial syndrome
Femur-fibula-ulna complex
Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
Fibular aplasia-ectrodactyly syndrome
Fibular dimelia-diplopodia syndrome
Hallux varus-preaxial polysyndactyly syndrome
Hand-foot-genital syndrome
Hereditary thrombocytosis with transverse limb defect
Humerus trochlea aplasia
Intellectual disability-brachydactyly-Pierre Robin syndrome
Intellectual disability-spasticity-ectrodactyly syndrome
Laurin-Sandrow syndrome
Lethal faciocardiomelic dysplasia
Limb transversal defect-cardiac anomaly syndrome
Mammary-digital-nail syndrome
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Pelvis-shoulder dysplasia
Pelviscapular dysplasia
Phocomelia, Schinzel type
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Postaxial tetramelic oligodactyly
Radial deficiency-tibial hypoplasia syndrome
Radio-renal syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome
Rapadilino syndrome
Scalp defects-postaxial polydactyly syndrome
Shoulder and thorax deformity-congenital heart disease syndrome
Skeletal dysplasia-epilepsy-short stature syndrome
Splenogonadal fusion-limb defects-micrognathia syndrome
Split hand-foot malformation 1 with sensorineural hearing loss
Split-foot malformation-mesoaxial polydactyly syndrome
Symphalangism with multiple anomalies of hands and feet
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Tarsal-carpal coalition syndrome
Temtamy preaxial brachydactyly syndrome
Tetramelic monodactyly
Thalidomide embryopathy
Thrombocytopenia-absent radius syndrome
Thumb stiffness-brachydactyly-intellectual disability syndrome
Tibia, hypoplasia or aplasia of, with polydactyly
Triphalangeal thumb-polysyndactyly syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome
Ulna hypoplasia-intellectual disability syndrome
Ulnar hypoplasia-split foot syndrome
Ulnar/fibula ray defect-brachydactyly syndrome

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.