What Your Test Results Mean:

Carriers typically show no symptoms of EDS-VIIC; however, carriers are at an increased risk of having a child with EDS-VIIC. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

EDS-VIIC is an inherited condition that impairs the body’s ability to properly make collagen, an important component of connective tissue. The result is called dermatosparaxis: affected individuals have soft, velvety, fragile skin that stretches and tears easily, and severe joint hyperextensibility. People with EDS-VIIC bruise and scar very easily, and their fragile connective tissue can lead to health complications such as spontaneous rupture of the bladder or diaphragm. EDS-VIIC does not affect intelligence or mental function and management is supportive.

How the Genetics Works:

EDS-VIIC is an autosomal recessive disorder caused by pathogenic variants in the ADAMTS2 gene. In general, individuals have two copies of the ADAMTS2 gene. Carriers of EDS-VIIC have a single variant in one copy of the ADAMTS2 gene while individuals with EDS-VIIC have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.