Autosomal recessive cutis laxa type 2
Autosomal recessive cutis laxa type 2
Definition
A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).
Also known as ARCL2, cutis laxa with joint laxity and developmental delay — per MONDO