Hydrocephalus due to congenital stenosis of aqueduct of sylvius

Disease Overview

Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.[8747][8751]

Synonyms

• Hydrocephalus, X-linked
• HSAS1
• Aqueductal stenosis, X-linked
• HSAS
• HYCX
• XLAS