Autosomal recessive cutis laxa type 1
Autosomal recessive cutis laxa type 1
Definition
Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).
Also known as ARCL1, autosomal recessive cutis laxa type 1, autosomal recessive cutis laxa with severe systemic involvement, autosomal recessive cutis laxa, pulmonary emphysema type — per MONDO