Dandy-Walker malformation-postaxial polydactyly syndrome
Findings
No curated finding names Dandy-Walker malformation-postaxial polydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.
Definition from the Mondo Disease Ontology (MONDO:0009075), read 2026-09-29. CC BY 4.0.
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dandy-Walker malformationHPOHP:0001305
- Very frequent (80% to 99% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Dandy-Walker malformation-postaxial polydactyly syndrome
- Also called
- DWM with postaxial polydactylyPierquin syndrome