/X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

Rare Disease

MONDO:0010611

Also Known As

Bickers-Adams syndromeHSASX-linked HSASX-linked acqueductal stenosisX-linked hydrocephalusX-linked hydrocephalus with stenosis of aqueduct of SylviusX-linked hydrocephalus with stenosis of the aqueduct of Sylviushydrocephalus due to aqueductal stenosis, X-linked recessivehydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessivehydrocephalus with hirschsprung disease, X-linked recessivehydrocephalus with stenosis of the aqueduct of SylviusHSAS1HYCXXLASaqueductal stenosis, X-linkedhydrocephalus due to congenital stenosis of aqueduct of Sylviushydrocephalus, X-linkedhydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction

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.