NIH

Zebra of the Week: Dandy-Walker syndrome

January 27, 2025

Dandy-Walker complex is a group of congenital brain development disorders affecting the cerebellum and surrounding fluid spaces, often involving a hypoplastic or aplastic cerebellar vermis, an enlarged fourth ventricle, and an expanded posterior fossa. More common in females, variants includes Dandy-Walker malformation (small cerebellar vermis, large fourth ventricle, enlarged posterior fossa), isolated cerebellar vermis hypoplasia (small cerebellar vermis without other features), and mega-cisterna magna (enlarged posterior fossa with a normal cerebellum, often asymptomatic). Causes can be genetic or environmental, and diagnosis is made via brain imaging (ultrasound, CT, MRI).

About Dandy-Walker syndrome

• Population estimate: Fewer than 50,000 people in the U.S. have this disease.
• Signs/symptoms: The condition is present at birth. The malformation can be detected during pregnancy via prenatal imaging.
• Cause: This disease is caused by genetic mutations.

Source:

NIH: Genetic and Rare Diseases Information Center. (Accessed January 24, 2025.) Dandy-Walker syndrome. https://rarediseases.info.nih.gov/diseases/6242/dandy-walker-syndrome