Musculocontractural Ehlers-Danlos syndrome
Other Names: Autosomal recessive adducted thumb-club foot syndrome; Adducted thumb clubfoot syndrome; Musculocontractural EDS; mcEDS; Ehlers-Danlos syndrome, musculocontractural type
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.
Cause[edit | edit source]
This condition is caused by mutations in the CHST14 gene.
Signs and symptoms[edit | edit source]
Adducted thumb-clubfoot syndrome is characterized by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs, arachnodactyly, clubfeet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects. Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy. Cognitive development during childhood is normal.
NIH genetic and rare disease info[edit source]
Musculocontractural Ehlers-Danlos syndrome is a rare disease.
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