X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
Definition
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, hydrocephalus due to aqueductal stenosis, X-linked recessive, hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive, hydrocephalus with hirschsprung disease, X-linked recessive, hydrocephalus with stenosis of the aqueduct of Sylvius, X-linked acqueductal stenosis, X-linked HSAS, X-linked hydrocephalus, X-linked hydrocephalus with stenosis of aqueduct of Sylvius, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius — per MONDO