Sjogren-Larsson Syndrome

Synonyms

Congenital Icthyosis Mental Retardation Spasticity Syndrome

FALDH Deficiency

Fatty Alcohol:NAD+ Oxidoreductase Deficiency

Fatty Aldehyde Dehydrogenase Deficiency

Fatty Aldehyde Dehydrogenase Deficiency Disease

Ichthyosis Oligophrenia Syndrome

Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia

Sjogren Larsson Syndrome

An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.