cutis laxa
Findings
No curated finding names cutis laxa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
Definition from the Mondo Disease Ontology (MONDO:0016175), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EFEMP1HGNC:3218
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: cutis laxa
- Also called
- elastolysis