Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18-04-2017

Symbol	THCF
Location	5q31.1
Name	tibial hemimelia and clubfoot
Corresponding gene	PITX1
Main clinical features	asymmetric right-sided predominant idiopathic clubfoot, patellar hypoplasia, oblique talus, tibial hemimelia, developmental hip dysplasia, and preaxial polydactyly club foot with deficiency of long bones and mirror-image polydactyly
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	malformation

Remark(s)