Type of disease: Rare conditions
Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. Depending on which organs and tissues are affected, the signs and symptoms can range from mild to life-threatening.
There are several different forms of cutis laxa, which are distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms tend to be more severe than the autosomal dominant form. The X-linked form of cutis laxa is often called occipital horn syndrome. Click on the links below to view information about the different types of cutis laxa.
Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type 1
Cutis laxa, autosomal recessive type 2A
Cutis laxa, autosomal recessive type 2B
Occipital horn syndrome
Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.