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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
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
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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