Hydrocephalus, congenital

Description

Dandy-Walker syndrome: Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.

Data source
FinnGen phenocode Q17_HCCONG
Hospital Discharge registry ICD-10: Q03, ICD-8: 742
Cause of Death registry ICD-10: Q03, ICD-8: 742
Level in the ICD-hierarchy 3
First defined in version DF2
Ontology
DOID 2785
GWAS catalog 1000890
MESH D003616
SNOMED CT 14447001

Key figures

Sex All Female Male
Number of individuals 22 11 11
Unadjusted prevalence (%) 0.02 0.01 0.02
Mean age at first event (years) 21.64 24.45 18.83
Median number of events / individual 1 1 4

Clinical metrics

Sex All Female Male
Recurrence within 6 months (%) 31.82 18.18 45.45
Case fatality at 5-years (%) 0.0 0.0 0.0

Associations