autosomal dominant cutis laxa
MeSH: C562627ORPHA: 90348
Overview
cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal dominant cutis laxa, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityCutis laxaHyperextensible skinRedundant skinIncreased number of skin foldsFragmented elastic fibers in the dermisPremature skin wrinklingInguinal herniaMitral regurgitationAortic regurgitationAbnormal facial shapeAortic aneurysmPrematurely aged appearanceAbnormal curvature of the vertebral columnHerniaBladder diverticulumMicrocephalyDelayed cranial suture closureTriangular faceBroad foreheadLow-set earsProtruding earStrabismusPtosisDevelopmental cataractAdducted thumbHypotoniaGlobal developmental delayMotor delayBrisk reflexesIntrauterine growth retardationCongestive heart failureCoarctation of aortaEmphysemaBronchiectasisSmall bowel diverticulaScoliosisHip dislocationPeripheral pulmonary artery stenosisRedundant neck skinDilatation of the ventricular cavityCorneal opacityPostnatal growth retardationDermal translucencyProminent foreheadBronchiolitisFeeding difficultiesPyelonephritisDecreased circulating vitamin D concentrationUnilateral renal agenesisAutistic behaviorOsteopeniaTalipes equinovarusPes planusTalipes calcaneovalgusVomitingWormian bonesSmall foramen magnumGenu recurvatum
Classification & Codes
MeSH Code
C562627Orphanet Code
ORPHA:90348autosomal dominant cutis laxa
| MeSH | C562627 |
| Orphanet | ORPHA:90348 |
| Treatments | 0 drug(s) |
| Symptoms on record | 59 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO