Orphanet: Hydrocephalus with stenosis of the aqueduct of Sylvius
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Hydrocephalus with stenosis of the aqueduct of Sylvius

Disease definition

A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.

ORPHA:2182

Classification level: Subtype of disorder
  • 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, Neonatal
  • ICD-10: Q03.0
  • OMIM: 307000
  • UMLS: C0265216
  • MeSH: -
  • GARD: 434
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.