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Hydrocephalus with stenosis of the aqueduct of Sylvius

ORPHA2182
Synonym(s) Bickers-Adams syndrome
HSAS
X-linked HSAS
X-linked acqueductal stenosis
X-linked hydrocephalus
X-linked hydrocephalus with stenosis of aqueduct of Sylvius
Prevalence 1-9 / 100 000
Inheritance X-linked recessive
Age of onset Antenatal
ICD-10
  • Q03.0
OMIM
UMLS
  • C0265216
MeSH -
MedDRA -

Summary

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.


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Detailed information

Clinical genetics review
  • EN (2010)
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