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Sjögren-Larsson syndrome in Child
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Sjögren-Larsson syndrome in Child

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
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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.

For more information, see OMIM.

Codes

ICD10CM:
Q87.1 – Congenital malformation syndromes predominantly associated with short stature

SNOMEDCT:
111303009 – Sjögren-Larsson syndrome

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Last Updated: 10/02/2018
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Sjögren-Larsson syndrome in Child
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Sjögren-Larsson syndrome : Seizures, Paraplegia, Quadriplegia, Diplegia, Pruritus, Developmental delay, Ichthyosis
Clinical image of Sjögren-Larsson syndrome
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