Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Other Names for this Disease
- Aqueductal stenosis, X-linked
- Bickers-Adams syndrome
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L1 syndrome, which is an inherited disorder that primarily affects the nervous system. Males with HSAS are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other sign and symptoms of the condition include severe intellectual disability and spasticity. HSAS, like all forms of L1 syndrome, is caused by changes (mutations) in the L1CAM gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of
Last updated: 4/26/2015
- Stumpel C & Vos YJ. L1 syndrome. GeneReviews. March 5, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1484/. Accessed 4/24/2015.
- L1 syndrome. NORD. August 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract.
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