Rheumatology · Rheumatology / Pediatric rheumatology
Farber syndrome
also: Farber lipogranulomatosis
Ceramidase deficiency with painful joints, nodules and hoarse voice.
- Specialty
- Rheumatology
- Subspecialty
- Rheumatology / Pediatric rheumatology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- ASAH1
- Alternative names & eponyms
- Farber lipogranulomatosis
Etiology & mechanism
Acid ceramidase deficiency.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with Farber syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Cerebral folate deficiency syndrome
developmental regression
1 shared
Dravet syndrome
developmental regression
1 shared
Leigh syndrome
developmental regression
1 shared
Menkes syndrome
developmental regression
1 shared
Sanfilippo syndrome
developmental regression
1 shared
Torg–Winchester syndrome
subcutaneous nodules
1 shared
West syndrome
developmental regression
Shares genes with
None.
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