Ehlers-Danlos syndrome, musculocontractural type
Adducted thumb and clubfoot syndrome
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.