/autosomal recessive cutis laxa type 1

autosomal recessive cutis laxa type 1

Rare Disease

MONDO:0019572

Also Known As

ARCL1autosomal recessive cutis laxa type 1autosomal recessive cutis laxa with severe systemic involvementautosomal recessive cutis laxa, pulmonary emphysema typeautosomal recessive cutis laxa type Icutis laxa, autosomal recessive type 1cutis 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).