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.
Also Known As:
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; Sjogren Larsson Syndrome