Cutis laxa syndrome

Also known as: Generalized elastolysis

Loose, sagging, inelastic skin from elastic fiber defects.

Medical specialty: Dermatology
Subspecialty: Dermatology / Heritable connective tissue disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes, congenital forms
Gene(s) involved: ALDH18A1, ATP6V0A2, ATP6V1E1, ELN, FBLN4, FBLN5, LTBP4, PYCR1

Etiology & mechanism

Defective elastic fiber assembly or extracellular matrix.

Gene(s) involved (8)

ALDH18A1ATP6V0A2ATP6V1E1ELNFBLN4FBLN5LTBP4PYCR1

Symptoms & signs (7)

arterial tortuositydevelopmental delaydiverticulaemphysemaherniasloose skinpremature aged appearance

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.