Chanarin–Dorfman syndrome

Also known as: Neutral lipid storage disease with ichthyosis

Ichthyosis with intracellular neutral lipid accumulation.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, from birth
Gene(s) involved: ABHD5

Etiology & mechanism

Impaired triglyceride lipolysis from ABHD5 deficiency.

Gene(s) involved (1)

ABHD5

Symptoms & signs (7)

cataractsdevelopmental delayfatty liverhearing losshepatomegalyichthyosismyopathy

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