Preferred Label : Autosomal recessive cutis laxa, type 1;
ICD-11 definition : Type 1 autosomal recessive cutis laxa (ARCL-1) manifests at birth with abnormal facies,
redundant folds around the face and neck, an aged appearance, joint laxity and muscular
hypotonia. Compared with autosomal dominant cutis laxa, ARCL-I is more often associated
with severe systemic complications, especially emphysema, diaphragmatic defects, arterial
tortuosity and aneurysms. Many patients die from pulmonary or cardiac complications
in early childhood. Mental and motor development are usually normal. It is due to
mutations in the genes encoding fibulin-4 or fibulin-5.;
ICD-11 synonym : Autosomal recessive cutis laxa, pulmonary emphysema type; ARCL-1 - [Autosomal recessive cutis laxa, type 1] (MIM 219100); Autosomal recessive cutis laxa with severe systemic involvement; ARCL-1 - [Autosomal recessive cutis laxa, type 1];
ICD-11 acronym : ARCL-1;
Origin ID : 1907973642;
Currated CISMeF NLP mapping
- Validated automatic mappings to NTBT
Type 1 autosomal recessive cutis laxa (ARCL-1) manifests at birth with abnormal facies,
redundant folds around the face and neck, an aged appearance, joint laxity and muscular
hypotonia. Compared with autosomal dominant cutis laxa, ARCL-I is more often associated
with severe systemic complications, especially emphysema, diaphragmatic defects, arterial
tortuosity and aneurysms. Many patients die from pulmonary or cardiac complications
in early childhood. Mental and motor development are usually normal. It is due to
mutations in the genes encoding fibulin-4 or fibulin-5.
