Conditions / Syndrome
Sjogren-Larsson syndrome
info · Syndrome
A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehyd
A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11.
Signs and symptoms
- Flexion contracture
- Reduced visual acuity
- Intellectual disability
- Spastic paraparesis
- Macular crystals
- Reduced tissue fatty aldehyde dehydrogenase activity
- Ichthyosis
- Spasticity
- Macular dots
- Photophobia
Medications that may treat it
Also known as: FALDH deficiency; SLS; Sjogren Larsson syndrome; Sjogren-Larsson's syndrome; fatty acid alcohol oxidoreductase deficiency