Ehlers-Danlos syndrome, musculocontractural type

Adducted thumb and clubfoot syndrome

Overview

Type of disease: Rare conditions

Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development.  This condition is caused by mutations in the CHST14 gene.  Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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