autosomal dominant cutis laxa
Findings
No curated finding names autosomal dominant cutis laxa yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.
Definition from the Mondo Disease Ontology (MONDO:0019571), read 2026-09-29. CC BY 4.0.
Features
59 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cutis laxaHPOHP:0000973
- Very frequent (80% to 99% of cases)
- Fragmented elastic fibers in the dermisHPOHP:0025167
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPOHP:0000974
- Very frequent (80% to 99% of cases)
- Increased number of skin foldsHPOHP:0007522
- Very frequent (80% to 99% of cases)
- Premature skin wrinklingHPOHP:0100678
- Very frequent (80% to 99% of cases)
- Redundant skinHPOHP:0001582
- Very frequent (80% to 99% of cases)
- Abnormal curvature of the vertebral columnHPOHP:0010674
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Aortic aneurysmHPOHP:0004942
- Frequent (30% to 79% of cases)
- Aortic regurgitationHPOHP:0001659
- Frequent (30% to 79% of cases)
- HerniaHPOHP:0100790
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
Show the remaining 47
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Mitral regurgitationHPOHP:0001653
- Frequent (30% to 79% of cases)
- Prematurely aged appearanceHPOHP:0007495
- Frequent (30% to 79% of cases)
- Adducted thumbHPOHP:0001181
- Occasional (5% to 29% of cases)
- Bladder diverticulumHPOHP:0000015
- Occasional (5% to 29% of cases)
- Brisk reflexesHPOHP:0001348
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
Where it sits
Other names
2 names
Resolves to: autosomal dominant cutis laxa
- Also called
- ADCLcutis laxa, autosomal dominant