Abstract
Introduction
Farber lipogranulomatosis is ASAH1-related disorders that is inherited in an autosomal recessive manner meaning, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Siblings with the same two pathogenic variants would be expected to have the same (or very similar) phenotype. The disorders are ultra-rare and estimated to occur in fewer than one per million.[1]
Keyword: Farber disease, genetics
References
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Corresponding Author
Dr Budoor Kahtan Al Shammari
MBBCH/Pediatric Specialist,
Primary health care, Doha, Qatar
DOI: https://dx.doi.org/10.18535/jmscr/v9i11.01
