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Autosomal recessive cutis laxa type 2
rareA 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).
- Identifiers
- MONDO:0019573 Orphanet:90350
- Part of
- Autosomal recessive diseaseDevelopmental anomaly of metabolic originInborn disorder of proline metabolismInherited cutis laxaSkeletal dysplasia
- Also known as
- ARCL2 · cutis laxa with joint laxity and developmental delay
Subtypes
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