Autosomal recessive cutis laxa type 2

MONDO:0019573

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

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Sub-types

Autosomal recessive cutis laxa type 2A (0) Autosomal recessive cutis laxa type 2B (0) Autosomal recessive cutis laxa type 2C (0) Autosomal recessive cutis laxa type 2D (0) Wrinkly skin syndrome (0)

Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Inborn errors of metabolism (45) Cutis laxa (37) Human disease (14) Developmental defect during embryogenesis (8) Autosomal recessive disease (4)

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