X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

Also known as: Bickers-Adams syndrome, HSAS, X-linked HSAS, X-linked acqueductal stenosis, X-linked hydrocephalus, X-linked hydrocephalus with stenosis of aqueduct of Sylvius, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, hydrocephalus due to aqueductal stenosis, X-linked recessive

3 clinical trials for this condition and its sub-types, 1 tagged with X-linked hydrocephalus with stenosis of the aqueduct of Sylvius itself.