X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
MONDO:0010611A 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
5 clinical trials for this condition and its sub-types.
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Blood test could replace risky needle for prenatal genetic diagnosis
Diagnosis Recruiting nowThis study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 12:23 UTC
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New Light-Based monitor could help doctors assess brain injury in preterm babies
Knowledge-focused Recruiting nowThis study tests a non-invasive light-based device to measure blood flow and oxygen use in the brains of premature infants who have bleeding or fluid buildup. Researchers will compare these measurements in affected babies, those with other types of fluid buildup, and healthy newb…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC