Terminology Service for NFDI4Health

Dandy-Walker malformation-postaxial polydactyly syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009075


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. [ ]

Term info

Label

Dandy-Walker malformation-postaxial polydactyly syndrome

Synonyms
  • DWM with postaxial polydactyly
  • Pierquin syndrome
database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

http://linkedlifedata.com/resource/umls/id/C1857351, http://identifiers.org/snomedct/733094005, http://purl.obolibrary.org/obo/Orphanet_1566, https://omim.org/entry/220220, http://identifiers.org/mesh/C535771

has related synonym

Dandy-Walker malformation with postaxial polydactyly

id

MONDO:0009075

narrowMatch

https://icd.codes/icd10cm/Q87.8