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Clubfoot

Synonyms
CLUB FOOT; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; Congenital Talipes Equinovarus; PITX1-Related Congenital Clubfoot; Talipes equinovarus

Summary

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012). [from OMIM]

Available tests

67 tests are in the database for this condition.

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Clinical tests (67 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BFT, CCF, LBNBG, POTX, PTX1, PITX1
    Summary: paired like homeodomain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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