X-linked Ehlers-Danlos syndrome

X-linked Ehlers-Danlos syndrome is a very rare form of the Ehlers-Danlos syndromes, a group of inherited connective tissue disorders. People with this condition typically have skin that can stretch more than usual, but unlike other types of EDS, the tissue fragility and joint looseness tend to be mild. In addition to hyperextensible skin, some families have reported features such as congenital heart disease, hernias, and shorter stature. This condition has been described in only two families so far and is passed on in an X-linked recessive pattern.

Common signs include skin that stretches more than usual. Some people may also experience mild joint looseness, and there have been reports of congenital heart issues, hernias, and shorter stature.

X-linked Ehlers-Danlos syndrome is caused by an inherited issue that follows an X-linked recessive pattern. This means that the gene affected is located on the X-chromosome. Although the exact gene has not been identified in this condition, the family history and inheritance pattern help explain why it runs in families.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.