Hydrocephalus with stenosis of the aqueduct of Sylvius

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Hydrocephalus with stenosis of the aqueduct of Sylvius

Synonyms: Bickers-Adams syndrome | HSAS | X-linked HSAS | X-linked acqueductal stenosis | X-linked hydrocephalus | X-linked hydrocephalus with stenosis of aqueduct of Sylvius

A congenital X-linked clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset adducted thumbs spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Hydrocephalus with stenosis of the aqueduct of Sylvius?

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Advocacy Organizations

National Organization for Disorders of the Corpus Callosum

The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.

Clinical Trials

For a list of clinical trials in this disease area, please click here.