Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius Overview

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Learn About Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius

What is the definition of Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius?
Hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is a form of 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 in the L1CAM gene and is inherited in an X-linked recessive manner.
What are the alternative names for Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius?
  • Hydrocephalus due to congenital stenosis of aqueduct of sylvius
  • Aqueductal stenosis, X-linked
  • HSAS
  • HSAS1
  • HYCX
  • Hydrocephalus, X-linked
  • XLAS
Who are the top Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius Local Doctors?
Neurosurgery
Neurosurgery

MD West One, PC

1213 Garfield Ave, 
Harlan, IA 
 (127.6 mi)
Languages Spoken:
English
Accepting New Patients

Guy Music is a Neurosurgery provider in Harlan, Iowa. Dr. Music and is rated as an Experienced provider by MediFind in the treatment of Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius. His top areas of expertise are Spondylolisthesis, Cervical Spondylosis, Spinal Stenosis, Laminectomy, and Cervical Disc Surgery. Dr. Music is currently accepting new patients.

 
 
 
 
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What are the latest Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius Clinical Trials?
Congenital Muscle Disease Patient and Proxy Reported Outcome Study

Summary: The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and bec...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center