Sjogren-Larsson syndrome

(redirected from FALDH deficiency)
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Sjö·gren-Lars·son syn·drome

(shōr'gren lar'sŏn), [MIM*270200]
congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p.

Sjö·gren-Lars·son syn·drome

(shōr'gren lar'sŏn), [MIM*270200]
congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p.

Sjögren-Larsson syndrome

[shō′gren lär′sən]
Etymology: Torsten Sjögren, Swedish pediatrician, 1859-1939; T. Larsson, twentieth-century Swedish pediatrician
a congenital condition inherited as an autosomal-recessive trait, characterized by ichthyosis, mental deficiency, and spastic paralysis.

Sjögren-Larsson syndrome

An autosomal recessive condition (OMIM:270200) characterised by ichthyosiform erythroderma, spastic paralysis, mental retardation, retinal degeneration, sparse and brittle hair, enamel hypoplasia, short stature, ocular hypertelorism and metaphyseal dysplasia.

Molecular pathology
Various mutations of ALDH2A2 on chromosome 17p11.2, which encodes fatty aldehyde dehydrogenase.

Larsson,

Tage Konrad Leopold, Swedish scientist, 1905–.
Sjögren-Larsson syndrome - see under Sjögren, Karl Gustaf Torsten

Sjögren,

Karl Gustaf Torsten, Swedish physician, 1859-1939.
Marinesco-Sjögren-Garland syndrome - see under Marinesco
Marinesco-Sjögren syndrome - see under Marinesco
Sjögren syndrome - Synonym(s): Marinesco-Sjögren syndrome
Sjögren-Larsson syndrome - congenital ichthyosis in association with oligophrenia and spastic paraplegia.
Torsten Sjögren syndrome - Synonym(s): Marinesco-Sjögren-Garland syndrome
Torsten syndrome - Synonym(s): Marinesco-Sjögren syndrome
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