Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
DW complex; Dandy-Walker syndrome or malformation (type of DW complex); Dandy-Walker variant (type of DW complex);
Congenital and Genetic Diseases
Dandy-Walker complex is a group of disorders that affect the development of the brain. The changes in brain development are present from birth (
- Dandy-Walker malformation (also known as Dandy-Walker
syndrome): having a small cerebellar vermis, large fourth ventricle, and enlarged posterior fossa
- Isolated cerebellar vermis hypoplasia (sometimes known as Dandy-Walker variant): having a small cerebellar vermis without other features of Dandy-Walker complex
- Mega-cisterna magna: having an enlarged posterior fossa with a typically developed cerebellum. This may be a normal variant and may not cause any health problems.
- Posterior fossa arachnoid cyst: the development of a cyst on the posterior fossa without any other features of Dandy-Walker complex
Each of these disorders can have separate causes and different long-term outlooks. In order to provide families with more information about the specific developmental differences in the brain and the long-term outlook, a person with Dandy-Walker complex may be given a more specific diagnosis.
In some cases, Dandy-Walker complex is caused by an underlying genetic change. These genetic changes may cause Dandy-Walker complex alone, or they may cause Dandy-Walker complex as well as other health problems. In these situations, the complex can run in families. However, in most situations, Dandy-Walker complex is caused by a combination of genetic and
Other signs and symptoms of Dandy-Walker complex may include an increase in the size and pressure of fluid spaces surrounding the brain (
In some cases, Dandy-Walker complex can be a sign of a separate underlying genetic
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Prominent back of the skull
Prominent posterior skull
[ more ]
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Aplasia/Hypoplasia of the
Cleft roof of mouth
|Tetralogy of Fallot||0001636|
|Percent of people who have these symptoms is not available through HPO|
|Agenesis of cerebellar vermis||0002335|
|Cranial nerve paralysis||0006824|
|Dilated fourth ventricle||0002198|
|Elevated imprint of the transverse sinuses||0000930|
Too much cerebrospinal fluid in the brain
Involuntary, rapid, rhythmic eye movements
|Partial absence of cerebellar vermis||0002951|
|Posterior fossa cyst at the fourth ventricle||0000933|
No previous family history
|Thinning and bulging of the posterior fossa bones||0000931|
Instability or lack of coordination of central trunk muscles
In some cases, Dandy-Walker complex is caused by an underlying genetic change. For example, some people with Dandy-Walker complex have extra or missing pieces of
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
- Genetics Home Reference contains information on Dandy-Walker complex. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 complex. Click on the link to view a sample search on this topic.
- Dandy-Walker Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). December 20, 2017; https://www.ninds.nih.gov/Disorders/All-Disorders/Dandy-Walker-Syndrome-Information-Page.
- Dobyns WB. Dandy Walker Malformation. National Organization for Rare Disorders (NORD). 2008; https://rarediseases.org/rare-diseases/dandy-walker-malformation/.
- Incesu L and Khosla A. Imaging in Dandy-Walker Malformation. Medscape Reference. March 27, 2018; https://emedicine.medscape.com/article/408059-overview.
- Dandy-Walker malformation. Genetics Home Reference. October 2015; https://ghr.nlm.nih.gov/condition/dandy-walker-malformation.
- Dandy-Walker Syndrome; DWS. Online Mendelian Inheritance in Man (OMIM). May 22, 2013; https://omim.org/entry/220200.
- Salihu HM, Kornosky JL, and Druschel CM. Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. Fetal Diagn Ther. 2008; 24(2):155-60. https://www.ncbi.nlm.nih.gov/pubmed/18648217.
- Harper T, Fordham LA, and Wolfe HM. The fetal Dandy Walker complex: associated anomalies, perinatal outcome and postnatal imaging.. Fetal Diagn Ther. 2007; 22(4):277-281. https://www.ncbi.nlm.nih.gov/pubmed/17369695.