Sjögren-Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms, identified by a triad of disorders. The first is ichthyosis, a buildup of skin forming a scale-like covering that causes dry skin and other problems. The second is paraplegia, marked by leg spasms, and the third is intellectual delay. The source says it is caused by a mutation in the fatty aldehyde dehydrogenase gene on chromosome 17, and that a child receives it only when both parents are carriers. In 1957 Sjögren and Larsson proposed that affected Swedes descend from one common ancestor about 600 years earlier. This record is not medical advice.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Sjögren-Larsson syndrome (Wikipedia)
Lead, second paragraph
caused by a mutation in the fatty aldehyde dehydrogenase gene
Opening sentence
rare autosomal recessive form of ichthyosis with neurological symptoms
View the Source2. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 816
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the codeQuote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "Q87.1", "Source": "ICD-10"
View the Source 3. MedlinePlus Genetics (U.S. National Library of Medicine): Sjögren-Larsson syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
Variants in the ALDH3A2 gene can cause cells to produce a version of the ALDH3A2 enzyme that is unable to break down fatty aldehyde molecules.
View the Source 4. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 816
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 816Quote, Orphanet epidemiology, ORPHAcode 816
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "Sweden", "PrevalenceQualification": "Value and class", "PrevalenceType": "Prevalence at birth"
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