Farber syndrome

Also known as: Farber lipogranulomatosis

Ceramidase deficiency with painful joints, nodules and hoarse voice.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Pediatric rheumatology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: ASAH1

Etiology & mechanism

Acid ceramidase deficiency.

Gene(s) involved (1)

ASAH1

Symptoms & signs (4)

developmental regressionhoarse crypainful swollen jointssubcutaneous nodules

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