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Genetics Home Reference: your guide to understanding genetic conditions
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Dandy-Walker syndrome

Reviewed July 2012

What is Dandy-Walker syndrome?

Dandy-Walker syndrome is a condition that affects brain development, primarily development of the part of the brain that coordinates movement (the cerebellum). In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum, known as the vermis, is absent or very small. Cysts form in the fourth ventricle, which is a fluid-filled cavity between the brainstem and the cerebellum, causing the ventricle to enlarge. The part of the skull that contains the cerebellum and the brainstem, called the posterior fossa, is abnormally large. These abnormalities often result in problems with movement, coordination, intellect, and other neurological functions.

In 80 to 90 percent of individuals with Dandy-Walker syndrome, signs and symptoms caused by abnormal brain development appear within the first year of life. Most children have a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Affected individuals typically have intellectual disability that ranges from mild to severe, although some have a normal intellect. Children with Dandy-Walker syndrome often have delayed development, particularly a delay in motor skills such as crawling, walking, and coordinating movements. People with Dandy-Walker syndrome frequently experience muscle stiffness and paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. Hearing and vision problems are sometimes a feature of this condition.

Less commonly, other brain malformations have been reported in people with Dandy-Walker syndrome. These malformations include a failure of the brain to divide properly into the right and left hemispheres (holoprosencephaly), underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum), a sac-like protrusion of the brain through an opening at the back of the skull (occipital encephalocele), abnormal slits or clefts in the brain (schizencephaly), or a type of birth defect that occurs when the protective covering around the brain or spinal cord fails to close during development (neural tube defect). These additional brain malformations are associated with more severe signs and symptoms.

Other signs and symptoms of Dandy-Walker syndrome can include heart defects, malformations of the urogenital tract, extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly), or abnormal facial features.

In 10 to 20 percent of people with Dandy-Walker syndrome, signs and symptoms do not appear until late childhood or into adulthood. These individuals typically have a different range of signs and symptoms, including headaches, an unsteady walking gait, paralysis of facial muscles (facial palsy), increased muscle tone, muscle spasms, and mental and behavioral changes.

A milder form of Dandy-Walker syndrome, called Dandy-Walker variant, is associated with less severe brain abnormalities and, generally, less severe signs and symptoms. Rarely, people with brain malformations characteristic of Dandy-Walker syndrome have no symptoms.

Problems related to hydrocephalus or complications of treatment are the most common causes of death in people with Dandy-Walker syndrome.

How common is Dandy-Walker syndrome?

Dandy-Walker syndrome is estimated to affect 1 in 25,000 to 30,000 newborns.

What genes are related to Dandy-Walker syndrome?

Researchers have found mutations in a few genes that are thought to cause Dandy-Walker syndrome, but these mutations account for only a small number of cases. Dandy-Walker syndrome has also been associated with chromosomal abnormalities on most of the chromosomes. This condition can be a feature of some conditions in which there is an extra copy of one chromosome in each cell (trisomy). Dandy-Walker syndrome most often occurs in people with trisomy 18 (an extra copy of chromosome 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. Additionally, Dandy-Walker syndrome has been reported in fetuses or newborns with triploidy, a fatal condition in which individuals have a complete extra set of chromosomes in each cell. Dandy-Walker syndrome can also be a feature of genetic syndromes that are caused by mutations in specific genes. However, the brain malformations associated with Dandy-Walker syndrome often occur as an isolated feature (not associated with a genetic condition), and in these cases the cause is frequently unknown.

Research suggests that Dandy-Walker syndrome could be caused by environmental factors that affect early development before birth. For example, exposure of the fetus to infections, such as rubella or toxoplasmosis, or substances that cause birth defects (teratogens) may be involved in the development of this condition. In addition, a mother with diabetes is more likely than a healthy mother to have a child with Dandy-Walker syndrome.

Related Gene(s)

Changes in these genes are associated with Dandy-Walker syndrome.

  • FOXC1
  • ZIC1
  • ZIC4

How do people inherit Dandy-Walker syndrome?

Most cases of Dandy-Walker syndrome are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases of Dandy-Walker syndrome have been reported to run in families; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. First-degree relatives (such as siblings and children) of people with Dandy-Walker syndrome have an increased risk of developing the condition compared with people in the general population.

When Dandy-Walker syndrome is a feature of a genetic condition, it is inherited in the pattern of that condition.

Where can I find information about diagnosis or management of Dandy-Walker syndrome?

These resources address the diagnosis or management of Dandy-Walker syndrome and may include treatment providers.

  • Genetic Testing Registry: Dandy-Walker syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0010964)
  • Hydrocephalus Association: Treatment of Hydrocephalus (http://www.hydroassoc.org/hydrocephalus-education-and-support/learning-about-hydrocephalus/treatment-of-hydrocephalus/)
  • National Hydrocephalus Foundation: Treatment of Hydrocephalus (http://nhfonline.org/treatment-of-hydrocephalus.htm)

You might also find information on the diagnosis or management of Dandy-Walker syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/dandy-walker-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/dandy-walker-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Dandy-Walker syndrome?

You may find the following resources about Dandy-Walker syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Dandy-Walker syndrome?

  • Dandy-Walker complex
  • Dandy-Walker cyst
  • Dandy-Walker deformity
  • Dandy-Walker malformation
  • hydrocephalus, internal, Dandy-Walker type
  • hydrocephalus, noncommunicating, Dandy-Walker type
  • Luschka-Magendie foramina atresia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Dandy-Walker syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Dandy-Walker syndrome?

agenesis ; atresia ; birth defect ; cell ; cerebellum ; chromosome ; corpus callosum ; cysts ; diabetes ; disability ; fetus ; gait ; holoprosencephaly ; hydrocephalus ; imaging ; inheritance ; macrocephaly ; malformation ; motor ; muscle tone ; neurological ; palsy ; paraplegia ; pattern of inheritance ; polydactyly ; population ; posterior ; sporadic ; syndactyly ; syndrome ; teratogens ; tissue ; trisomy ; ventricle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9. (http://www.ncbi.nlm.nih.gov/pubmed/19668217?dopt=Abstract)
  • Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct;36(10):1053-5. Epub 2004 Aug 29. (http://www.ncbi.nlm.nih.gov/pubmed/15338008?dopt=Abstract)
  • Harper T, Fordham LA, Wolfe HM. The fetal dandy walker complex: associated anomalies, perinatal outcome and postnatal imaging. Fetal Diagn Ther. 2007;22(4):277-81. (http://www.ncbi.nlm.nih.gov/pubmed/17369695?dopt=Abstract)
  • Has R, Ermiş H, Yüksel A, Ibrahimoğlu L, Yildirim A, Sezer HD, Başaran S. Dandy-Walker malformation: a review of 78 cases diagnosed by prenatal sonography. Fetal Diagn Ther. 2004 Jul-Aug;19(4):342-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15192294?dopt=Abstract)
  • Imataka G, Yamanouchi H, Arisaka O. Dandy-Walker syndrome and chromosomal abnormalities. Congenit Anom (Kyoto). 2007 Dec;47(4):113-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17988252?dopt=Abstract)
  • Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16. (http://www.ncbi.nlm.nih.gov/pubmed/12879343?dopt=Abstract)
  • Sasaki-Adams D, Elbabaa SK, Jewells V, Carter L, Campbell JW, Ritter AM. The Dandy-Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes. J Neurosurg Pediatr. 2008 Sep;2(3):194-9. doi: 10.3171/PED/2008/2/9/194. (http://www.ncbi.nlm.nih.gov/pubmed/18759601?dopt=Abstract)
  • Spennato P, Mirone G, Nastro A, Buonocore MC, Ruggiero C, Trischitta V, Aliberti F, Cinalli G. Hydrocephalus in Dandy-Walker malformation. Childs Nerv Syst. 2011 Oct;27(10):1665-81. doi: 10.1007/s00381-011-1544-4. Epub 2011 Sep 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21928031?dopt=Abstract)
  • Tohyama J, Kato M, Kawasaki S, Harada N, Kawara H, Matsui T, Akasaka N, Ohashi T, Kobayashi Y, Matsumoto N. Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient. Am J Med Genet A. 2011 Jan;155A(1):130-3. doi: 10.1002/ajmg.a.33652. Epub 2010 Dec 10. (http://www.ncbi.nlm.nih.gov/pubmed/21204220?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2012
Published: July 7, 2014