Sjögren–Larsson syndrome

Also known as: Fatty aldehyde dehydrogenase deficiency

Congenital ichthyosis with spastic diplegia and intellectual disability.

Medical specialty: Dermatology
Subspecialty: Dermatology / Genodermatoses
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, from birth
Gene(s) involved: ALDH3A2

Etiology & mechanism

Fatty aldehyde dehydrogenase deficiency causing lipid accumulation.

Gene(s) involved (1)

ALDH3A2

Symptoms & signs (7)

glistening retinal dotsichthyosisintellectual disabilityphotophobiapruritusseizuresspastic diplegia

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