While the specific cause of<unk>  is unknown, it has been deemed as a genetic disorder. It is believed to be typically inherited, and transmitted as both a recessive and dominant gene. Pathophysiology The exact genetic mutation responsible for<unk>  is unknown at this time. However, the mode of inheritance is perceived to be X-linked recessive because the first two cases reported of this syndrome were in two male cousins, who were related through their mothers. This means that the gene that is associated with this disorder is located on the X chromosome. Since males have only one X chromosome, only a single mutation is needed to cause this disorder. In contrast, females would require a mutation on both of their X chromosomes, which is a very rare occurrence. Therefore,<unk>  and X-linked recessive disorders are more common in males. Cutis laxa, one of the most common symptoms associated with<unk> , is caused by mutations in several different genes. These genes include ATP6V0A2, ATP7A, EFEMP2, ELN, and FBLN5. These genes are responsible for elastic fibers, specifically how they are formed and their function. Elastic fibers allow the skin to stretch, help the lungs expand and contract, as well assist arteries in managing blood flow at high blood pressures. The mode of inheritance for cutis laxa may be X-linked, autosomal dominant, or autosomal recessive. Cutis laxa is known to be the cause of many of the complications associated with<unk>  such as congestive heart failure, respiratory failure, and dysfunction of gastrointestinal and urinary tract.
SCARF syndrome
Fabry disease
McKittrick-Wheelock syndrome
CAMFAK syndrome
Smith–Fineman–Myers syndrome
Flynn–Aird syndrome
Marfan syndrome
Danon disease