Sjögren-Larsson syndrome in Adult
Synopsis
Sjögren-Larsson syndrome (SLS) is a rare inborn error of metabolism characterized by congenital ichthyosis, intellectual disability, and spastic di- or tetraplegia. Ichthyosis, usually present at birth, may occur after the first year of life. It is an autosomal recessive condition due to defective fatty aldehyde dehydrogenase (FALDH) mapped to the SLS locus on chromosome 17.
Codes
ICD10CM:
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature
SNOMEDCT:
111303009 – Sjögren-Larsson syndrome
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature
SNOMEDCT:
111303009 – Sjögren-Larsson syndrome
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Last Updated:01/24/2022
Sjögren-Larsson syndrome in Adult
