Orphanet: Familial clubfoot with or without associated lower limb anomalies
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Familial clubfoot with or without associated lower limb anomalies

Disease definition

Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.

ORPHA:199315

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q66.8
  • OMIM: 119800  613618
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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