National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dandy-Walker malformation with postaxial polydactyly


Other Names:
DWM with postaxial polydactyly; Pierquin syndrome
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1566

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.

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dandy-Walker malformation 0001305
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Percent of people who have these symptoms is not available through HPO
Agenesis of cerebellar vermis 0002335
Aortic valve stenosis
Narrowing of aortic valve
0001650
Autosomal recessive inheritance 0000007
Chorioretinal atrophy 0000533
Cranial nerve paralysis 0006824
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Dilatation
Wider than typical opening or gap
0002617
Dilated fourth ventricle 0002198
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ] 		0000268
Elevated imprint of the transverse sinuses 0000930
Frontal bossing 0002007
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Microretrognathia
Small retruded chin
0000308
Narrow palpebral fissure
Small opening between the eyelids
0045025
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Partial absence of cerebellar vermis 0002951
Patent ductus arteriosus 0001643
Posterior embryotoxon 0000627
Posterior fossa cyst at the fourth ventricle 0000933
Thinning and bulging of the posterior fossa bones 0000931
Truncal ataxia
Instability or lack of coordination of central trunk muscles
0002078
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dandy-Walker malformation with postaxial polydactyly. Click on the link to view a sample search on this topic.

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