What Is Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius?
Source: Genetic and Rare Diseases (GARD) Information Center
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Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius
HSAS; Hydrocephalus X-Linked; HYCX
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. Explore symptoms, causes, and genetics of this rare condition.
Hydrocephalus
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Hydrocephalus
Image by CDC
Source: Genetic and Rare Diseases (GARD) Information Center
X-linked recessive
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Source: Genetic and Rare Diseases (GARD) Information Center
Little boy with hydrocephalus and his mother
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Males with hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) are typically born with severe hydrocephalus and adducted thumbs (bent towards the palm). Other signs and symptoms may include:
Of note, HSAS is one form of L1 syndrome, which is an inherited condition that primarily affects the nervous system. Other forms include MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. All of the different forms of L1 syndrome may be observed in affected people within the same family.
Source: Genetic and Rare Diseases (GARD) Information Center
Ct being done for the case of hydrocephalus- 11 months of age male child
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Source: Genetic and Rare Diseases (GARD) Information Center
Baby recovering from shunt surgery
Image by Syed Ikhwan
Source: Genetic and Rare Diseases (GARD) Information Center
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