Everyone has two copies of the most of their genes including the ones associated with EDS. They receive one gene from their fathers and the other of the pair from their mothers. Autosomal dominant inheritance means that a person receives one nonworking copy of the gene in question. With autosomal dominant inheritance, the one nonworking copy of the gene is sufficient to cause symptoms of the disorder. Autosomal recessive inheritance means that a person receives a nonworking copy of the gene in question from both parents.
In a family with an autosomal recessive form of EDS, tests can be done to see whether other family members are carriers for the disorder. (Carriers do not have symptoms and have one working and one non-working copy of the gene in question.) However, the specific gene changes in that family needs to be known. If known, all siblings and other at-risk relatives can be tested. Molecular genetic testing, which are tests that look for changes to genes, can be performed. A newborn child in a family with a history of EDS can be tested through molecular genetic testing.
In autosomal dominant forms of EDS, the disorder can occur spontaneously in a child and neither parent will have a mutation in the gene in question. However, sometimes a parent is undiagnosed due to mild symptoms. Molecular genetic testing can be done to identify an affected parent. If a parent is found to have a pathogenic mutation, then any first degree relatives like brothers or sisters should also be tested.
A genetic counselor or a physician with experience in EDS can provide advice about how a confirmed diagnosis can affect other family members. Medical geneticists can be found through the American College of Medical Geneticists website and a genetic counselor can be found through the National Society of Genetic Counselors website.
