autosomal recessive cutis laxa type I
MeSH: C562628ORPHA: 90349
Overview
cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems
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 recessive cutis laxa type I, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityCutis laxaRedundant skinEmphysemaDermatochalasisFragmented elastic fibers in the dermisLack of skin elasticityInguinal herniaAbnormality of the faceMotor delayIntrauterine growth retardationCongestive heart failureAbnormal facial shapeRespiratory insufficiencyPneumothoraxPathologic fractureAbnormal cheek morphologyPeripheral pulmonary artery stenosisAbnormal systemic arterial morphologyAbnormal cardiovascular system morphologyJoint subluxationAbnormality of the thoracic cavityHerniaRecurrent urinary tract infectionsVesicoureteral refluxAbnormal skull morphologyPyloric stenosisSmall bowel diverticulaVascular dilatationHip dislocationSupravalvular aortic stenosisRecurrent pneumoniaDilatation of the ventricular cavityUrethral diverticulumPyelonephritisMultiple bladder diverticulaAbnormal cardiac ventricular function
Classification & Codes
MeSH Code
C562628Orphanet Code
ORPHA:90349autosomal recessive cutis laxa type I
| MeSH | C562628 |
| Orphanet | ORPHA:90349 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO