Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2)

Ehlers-Danlos syndromes are a group of connective tissue diseases characterized by joint hyperlaxity, hyperelasticity of skin, and tissue fragility. Ehlers-Danlos syndrome, type VIIC, also known as the dermatosparaxis type, is a very rare autosomal recessive disease caused by pathogenic variants in the gene ADAMTS2. This syndrome is characterized by extremely fragile skin. Additionally, patients exhibit joint hypermobility, easy bruising, and blue sclera. Approximately half of the patients described in the literature are of Ashkenazi Jewish origin. Life expectancy is unknown. No genotype-phenotype correlation has been observed.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):