Sjogren-Larsson Syndrome

**Definition:** 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.

**Tree numbers:** - C16.131.831.512.723 - C16.320.565.398.641.723 - C16.320.850.820 - C16.614.492.723 - C17.800.428.333.723 - C17.800.804.512.723 - C17.800.827.820 - C18.452.584.563.641.723 - C18.452.648.398.641.723

**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 - Sjögren-Larsson Syndrome