Dandy-Walker malformation-postaxial polydactyly syndrome
Synonyms: DWM with postaxial polydactyly | Pierquin syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Dandy-Walker malformation-postaxial polydactyly syndrome?
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Advocacy Organizations
Dandy Walker Institute
research genetic testing and finding cures to improve treatment outcomes
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
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