Ehlers–Danlos syndrome, classical type

Also known as: cEDS

Skin hyperextensibility with atrophic scarring and joint hypermobility.

Medical specialty: Dermatology
Subspecialty: Dermatology / Heritable connective tissue disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, features from birth
Gene(s) involved: COL1A1, COL5A1, COL5A2

Etiology & mechanism

Defective type V collagen structure.

Gene(s) involved (3)

COL1A1COL5A1COL5A2

Symptoms & signs (6)

atrophic scarseasy bruisingherniahyperextensible skinjoint hypermobilitymolluscoid pseudotumors

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