Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Autosomal recessive disease · Skeletal dysplasia · Developmental anomaly of metabolic origin · Inherited cutis laxa · Inborn disorder of proline metabolism
Autosomal recessive cutis laxa type 2
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).