General Information of Disease (ID: DIS8VKY4)

Disease Name Autosomal recessive cutis laxa type 2
Synonyms ARCL2; cutis laxa with joint laxity and developmental delay
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).
Disease Hierarchy
DIS179YA: Inborn disorder of proline metabolism
DISCPWH9: Autosomal recessive disease
DISMFQKM: Developmental anomaly of metabolic origin
DIS0OJ0Q: Inherited cutis laxa
DIS5Z8U6: Skeletal dysplasia
DIS8VKY4: Autosomal recessive cutis laxa type 2
Disease Identifiers
MONDO ID
MONDO_0019573
UMLS CUI
C0432337
MedGen ID
609467
Orphanet ID
90350
SNOMED CT ID
254223007