General Information of Disease (ID: DISVV3CF)

Disease Name Familial clubfoot with or without associated lower limb anomalies
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.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3LICD: Congenital limb malformation
DISVV3CF: Familial clubfoot with or without associated lower limb anomalies
Disease Identifiers
MONDO ID
MONDO_0016046
UMLS CUI
C5680522
MedGen ID
1843133
Orphanet ID
199315