Ehlers-Danlos syndrome, arthrochalasia type

An inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

Also known as: EDS VII, Ehlers-Danlos syndrome type 7, Ehlers-Danlos syndrome, arthrochalasia type, Ehlers-Danlos syndrome, type VII, EDS 7A, EDS 7B, AEDS, EDS VII, mutant procollagen type

0 clinical trials for this condition and its sub-types, 0 tagged with Ehlers-Danlos syndrome, arthrochalasia type itself.