Autosomal dominant cutis laxa

The autosomal dominant cutis laxa manifests with the typical symptoms of connective tissue including excessive, wrinkled skin and an additional involvement of the internal organs. These include cardiovascular and gastrointestinal symptoms, however occuring rarely. The findings of the connective tissue are usually already present at birth, which leads to an early diagnosis. 

The cause of the disease is mutations in the elastin gene and the fibulin-5 gene.