Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Other Names for this Disease
- Aqueductal stenosis, X-linked
- Hydrocephalus, X-linked
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The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education and early intervention may be recommended for children with intellectual disability. Although intervention is rarely necessary for adducted thumbs (bent towards the palms), tendon transfer surgery or splinting may be suggested in some cases.
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.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- ClinicalTrials.gov lists trials that are studying or have studied Hydrocephalus due to congenital stenosis of aqueduct of sylvius. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.