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Sjögren-Larsson syndrome

Congenital Malformations and Chromosomal Abnormalities

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
Body System
Integumentary System 1
Body System
Nervous System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Prevalence Band
Rare (Under 1 in 2000) 4
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
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2. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 816
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the code
Quote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "Q87.1", "Source": "ICD-10"
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3. MedlinePlus Genetics (U.S. National Library of Medicine): Sjögren-Larsson syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and Inheritance
Quote, 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.
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4. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 816
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 816
Quote, Orphanet epidemiology, ORPHAcode 816
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "Sweden", "PrevalenceQualification": "Value and class", "PrevalenceType": "Prevalence at birth"
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