/Ehlers-Danlos syndrome, arthrochalasia type

Ehlers-Danlos syndrome, arthrochalasia type

Rare Disease

MONDO:0007525

Also Known As

EDS VIIEhlers-Danlos syndrome type 7Ehlers-Danlos syndrome, arthrochalasia typeEhlers-Danlos syndrome, type VIIEDS 7AEDS 7BAEDSEDS VII, mutant procollagen typeEDS7A (formerly)EDSARTH1Ehlers-Danlos syndrome type 7A (formerly)Ehlers-Danlos syndrome, arthrochalasia type, 1Ehlers-Danlos syndrome, type VII, autosomal dominantEhlers-Danlos syndrome, type VIIA, autosomal dominantarthrochalasia EDSarthrochalasia Ehlers-Danlos syndromearthrochalasis multiplex congenita

Definition

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.