Catalog

Autosomal recessive cutis laxa, type 1

No MMS code

Link to WHO Definition

Autosomal recessive cutis laxa, type 1 – http://id.who.int/icd/entity/1907973642

Type 1 autosomal recessive cutis laxa (ARCL-1) manifests at birth with abnormal facies, redundant folds around the face and neck, an aged appearance, joint laxity and muscular hypotonia. Compared with autosomal dominant cutis laxa, ARCL-I is more often associated with severe systemic complications, especially emphysema, diaphragmatic defects, arterial tortuosity and aneurysms. Many patients die from pulmonary or cardiac complications in early childhood. Mental and motor development are usually normal. It is due to mutations in the genes encoding fibulin-4 or fibulin-5.