Sjogren-Larsson Syndrome

Sjogren-Larsson Syndrome

Sjogren-Larsson syndrome, a rare autosomal recessive disorder, causes ichthyosis, intellectual disability, and spastic diplegia. This condition results from mutations in the ALDH3A2 gene. Individuals with Sjogren-Larsson syndrome exhibit dry, scaly skin and neurological issues. Diagnosis typically involves genetic testing. Management focuses on symptom relief and supportive therapies.