Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the PITX1 gene, encoding pituitary homeobox 1. It is characterized by clubfoot, and may have associated long bone deformity and/or polydactyly.

**Synonyms:** - Familial Clubfoot due to PITX1 Point Mutation