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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
  • ICD-11: LA04.0
  • OMIM: 307000
  • UMLS: C0265216
  • MeSH: C536078
  • GARD: 434
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2012) Italiano (2012)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

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.