Congenital limb malformation

Part of

Sub-types of Congenital limb malformation

• Familial clubfoot with or without associated lower limb anomalies 0 trials · 18 incl. sub-types
  2 sub-types

  • Clubfoot 18 trials Sub-types →
  • Familial clubfoot due to 17q23.1q23.2 microduplication 0 trials
• Acrocephalosyndactyly 0 trials · 13 incl. sub-types
  4 sub-types

  • Apert syndrome 11 trials Sub-types →
  • Saethre-Chotzen syndrome 3 trials
  • Acrocephalopolysyndactyly 0 trials · 1 incl. sub-types Sub-types →
  • Jackson-Weiss syndrome 0 trials
• Arthrogryposis syndrome 0 trials · 8 incl. sub-types
  6 sub-types

  • Distal arthrogryposis 0 trials · 3 incl. sub-types Sub-types →
  • Lethal congenital contracture syndrome 0 trials · 3 incl. sub-types Sub-types →
  • Arthrogryposis multiplex congenita 1 trial · 2 incl. sub-types Sub-types →
  • Multiple pterygium syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Congenital amyoplasia 0 trials
  • Popliteal pterygium syndrome 0 trials Sub-types →
• Cornelia de Lange syndrome 4 trials · 5 incl. sub-types
  6 sub-types

  • Cornelia de Lange syndrome 1 1 trial
  • Cornelia de Lange syndrome 2 0 trials
  • Cornelia de Lange syndrome 3 0 trials
  • Cornelia de Lange syndrome 4 0 trials
  • Cornelia de Lange syndrome 5 0 trials
  • Cornelia de Lange syndrome 6 0 trials
• Rubinstein-Taybi syndrome 3 trials
  3 sub-types

  • Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
  • Chromosome 16p13.3 deletion syndrome 0 trials Sub-types →
• Poland syndrome 2 trials
• Extensor tendons of finger anomalies 2 trials
• 2q37 microdeletion syndrome 1 trial
• Duane-radial ray syndrome 1 trial
  2 sub-types

  • Okihiro syndrome due to 20q13 microdeletion 0 trials
  • Okihiro syndrome due to a point mutation 0 trials
• EEC syndrome 1 trial
  2 sub-types

  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0 trials
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
• Femur-fibula-ulna complex 1 trial
• Laurin-Sandrow syndrome 1 trial
• Proximal symphalangism 1 trial
  2 sub-types

  • Proximal symphalangism 1A 0 trials
  • Symphalangism, proximal, 1B 0 trials
• Thalidomide embryopathy 1 trial
• Thrombocytopenia-absent radius syndrome 1 trial
• Acrofacial dysostosis 0 trials · 1 incl. sub-types
  14 sub-types

  • Postaxial acrofacial dysostosis 1 trial
  • Patterson-Stevenson-Fontaine syndrome 0 trials
  • SF3B4-related acrofacial dysostosis 0 trials Sub-types →
  • Acrocraniofacial dysostosis 0 trials
  • Acrofacial dysostosis Cincinnati type 0 trials
  • Acrofacial dysostosis Preis type 0 trials
  • Acrofacial dysostosis Rodriguez type 0 trials
  • Acrofacial dysostosis, Catania type 0 trials
  • Acrofacial dysostosis, Kennedy-Teebi type 0 trials
  • Acrofacial dysostosis, Palagonia type 0 trials
  • Acrofacial dysostosis, Weyers type 0 trials
  • Acrofrontofacionasal dysostosis 0 trials Sub-types →
  • Acromelic frontonasal dysostosis 0 trials
  • Mandibulofacial dysostosis-microcephaly syndrome 0 trials
• ADULT syndrome 0 trials
• Adams-Oliver syndrome 0 trials
  6 sub-types

  • Adams-Oliver syndrome 1 0 trials
  • Adams-Oliver syndrome 2 0 trials
  • Adams-Oliver syndrome 3 0 trials
  • Adams-Oliver syndrome 4 0 trials
  • Adams-Oliver syndrome 5 0 trials
  • Adams-Oliver syndrome 6 0 trials
• Al-Gazali syndrome 0 trials
• Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 0 trials
• Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
• Cenani-Lenz syndactyly syndrome 0 trials
• Cooks syndrome 0 trials
• EEM syndrome 0 trials
• Emery-Nelson syndrome 0 trials
• Fuhrmann syndrome 0 trials
• Gollop-Wolfgang complex 0 trials
• Hypoglossia-hypodactyly syndrome 0 trials
• IVIC syndrome 0 trials
• Karsch-Neugebauer syndrome 0 trials
• Keutel syndrome 0 trials
• Leri pleonosteosis 0 trials
• Mononen-Karnes-Senac syndrome 0 trials
• OSLAM syndrome 0 trials
• Say-field-Coldwell syndrome 0 trials
• Sugarman brachydactyly 0 trials
• TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
• Townes-Brocks syndrome 0 trials
  2 sub-types

  • Townes-Brocks syndrome 1 0 trials
  • Townes-Brocks syndrome 2 0 trials
• Absence deformity of leg-cataract syndrome 0 trials
• Absent radius-anogenital anomalies syndrome 0 trials
• Absent tibia-polydactyly-arachnoid cyst syndrome 0 trials
• Acromesomelic dysplasia 2B 0 trials
• Acropectoral syndrome 0 trials
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0 trials
  1 sub-type

  • Rosselli-Gulienetti syndrome 0 trials
• Aphalangy-syndactyly-microcephaly syndrome 0 trials
• Autosomal recessive amelia 0 trials
• Brachydactyly-arterial hypertension syndrome 0 trials
• Brachydactyly-preaxial hallux varus syndrome 0 trials
• Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
• Camptodactyly syndrome, Guadalajara type 2 0 trials
• Camptodactyly-taurinuria syndrome 0 trials
• Caudal regression-sirenomelia spectrum 0 trials
  1 sub-type

  • Familial caudal dysgenesis 0 trials Sub-types →
• Cocoon syndrome 0 trials
• Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
• Crossed polysyndactyly 0 trials
• Ectrodactyly-polydactyly syndrome 0 trials
• Familial digital arthropathy-brachydactyly 0 trials
• Femoral-facial syndrome 0 trials
• Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 0 trials
• Fibular aplasia-ectrodactyly syndrome 0 trials
• Fibular dimelia-diplopodia syndrome 0 trials
• Hallux varus-preaxial polysyndactyly syndrome 0 trials
• Hand-foot-genital syndrome 0 trials
• Heart-hand syndrome 0 trials
  6 sub-types

  • Carney complex - trismus - pseudocamptodactyly syndrome 0 trials
  • Holt-Oram syndrome 0 trials Sub-types →
  • Brachydactyly-long thumb syndrome 0 trials
  • Heart-hand syndrome type 2 0 trials
  • Heart-hand syndrome, Slovenian type 0 trials
  • Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 0 trials
• Hereditary thrombocytosis with transverse limb defect 0 trials
• Humerus trochlea aplasia 0 trials
• Hyperphosphatasia-intellectual disability syndrome 0 trials
  6 sub-types

  • Hyperphosphatasia with intellectual disability syndrome 1 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 2 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 3 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 4 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 5 0 trials
  • Hyperphosphatasia with intellectual disability syndrome 6 0 trials
• Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
• Intellectual disability-spasticity-ectrodactyly syndrome 0 trials
• Lethal faciocardiomelic dysplasia 0 trials
• Limb transversal defect-cardiac anomaly syndrome 0 trials
• Mammary-digital-nail syndrome 0 trials
• Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
• Multiple synostoses syndrome 0 trials
  4 sub-types

  • Multiple synostoses syndrome 1 0 trials
  • Multiple synostoses syndrome 2 0 trials
  • Multiple synostoses syndrome 3 0 trials
  • Multiple synostoses syndrome 4 0 trials
• Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 0 trials
• Pelvis-shoulder dysplasia 0 trials
• Pelviscapular dysplasia 0 trials
• Phocomelia, Schinzel type 0 trials
• Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 0 trials
• Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
• Postaxial tetramelic oligodactyly 0 trials
• Radial deficiency-tibial hypoplasia syndrome 0 trials
• Radio-renal syndrome 0 trials
• Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 0 trials
  2 sub-types

  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 trials
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 trials
• Radioulnar synostosis-developmental delay-hypotonia syndrome 0 trials
• Rapadilino syndrome 0 trials
• Scalp defects-postaxial polydactyly syndrome 0 trials
• Shoulder and thorax deformity-congenital heart disease syndrome 0 trials
• Skeletal dysplasia-epilepsy-short stature syndrome 0 trials
• Splenogonadal fusion-limb defects-micrognathia syndrome 0 trials
• Split hand-foot malformation 1 with sensorineural hearing loss 0 trials
• Split-foot malformation-mesoaxial polydactyly syndrome 0 trials
• Symphalangism with multiple anomalies of hands and feet 0 trials
• Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome 0 trials
• Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
• Tarsal-carpal coalition syndrome 0 trials
• Temtamy preaxial brachydactyly syndrome 0 trials
• Tetraamelia-multiple malformations syndrome 0 trials
  2 sub-types

  • Tetraamelia syndrome 1 0 trials
  • Tetraamelia syndrome 2 0 trials
• Tetramelic monodactyly 0 trials
• Thumb stiffness-brachydactyly-intellectual disability syndrome 0 trials
• Tibia, hypoplasia or aplasia of, with polydactyly 0 trials
• Tibial aplasia-ectrodactyly syndrome 0 trials
  3 sub-types

  • Chromosome 17P13.3, telomeric, duplication syndrome 0 trials
  • Split-hand/foot malformation with long bone deficiency 1 0 trials
  • Split-hand/foot malformation with long bone deficiency 2 0 trials
• Triphalangeal thumb-polysyndactyly syndrome 0 trials
• Triphalangeal thumbs-brachyectrodactyly syndrome 0 trials
• Ulna hypoplasia-intellectual disability syndrome 0 trials
• Ulnar hypoplasia-split foot syndrome 0 trials
• Ulnar/fibula ray defect-brachydactyly syndrome 0 trials