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Report Index
Dandy Walker Malformation
Synonyms
NORD gratefully acknowledges William B. Dobyns, MD, Professor of Human
Genetics, Neurology and Pediatrics at the Department of Human Genetics of General Discussion
the University of Chicago, for assistance in the preparation of this report.

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Synonyms of Dandy Walker Malformation Signs & Symptoms

Dandy-Walker Cyst Causes

Dandy-Walker Deformity Affected Populations
Dandy-Walker Syndrome Related Disorders
DWM Standard Therapies
Hydrocephalus, Internal, Dandy-Walker Type Investigational
Hydrocephalus, Noncommunicating, Dandy-Walker Type Therapies
Luschka-Magendie Foramina Atresia
Supporting
Organizations
General Discussion References
Dandy-Walker malformation (DWM) is a brain malformation that
occurs during embryonic development of the cerebellum and 4th
ventricle. The cerebellum is the area of the brain that helps Search Rare
coordinate movement, and is also involved with cognition and Diseases
behavior. The 4th ventricle is a space around the cerebellum that
channels fluid from inside to around the outside of the brain. Enter a disease name
DWM is characterized by underdevelopment (small size and or synonym to search
abnormal position) of the middle part of the cerebellum known NORD's database of
as the cerebellar vermis, cystic enlargement of the 4th ventricle reports.
and enlargement of the base of the skull (posterior fossa). DWM
is sometimes (20-80%) associated with hydrocephalus, in which
blockage of the normal flow of spinal fluid leads to excessive NORD's Rare Disease
amounts of fluid accumulating in and around the brain. This leads Database provides brief
introductions for patients
to abnormally high pressure within the skull and swelling of the and their families to more
head, and can lead to neurological impairment. than 1,200 rare diseases. This
is not a comprehensive
database since there are
Signs & Symptoms nearly 7,000 diseases
considered rare in the U.S. We
The symptoms of Dandy Walker syndrome typically include add new topics as we are able
developmental delay, low tone (hypotonia) or later high tone to do so, with the help of rare
disease medical experts.
(spasticity), poor coordination and balance (ataxia), and
sometimes enlarged head circumference and increased pressure If you are seeking information
about a rare disease that is
within the skull due to hydrocephalus. Mental retardation occurs
not in this database, we
in fewer than half, most often in those with severe would suggest contacting the
hydrocephalus, chromosome abnormalities or other birth Genetic and Rare Diseases
Information Center (GARD)
defects. Seizures occur in 15-30% of those affected. Respiratory
(http://rarediseases.info.nih.gov
control centers in the brainstem are sometimes affected and can /GARD/Default.aspx) at the
lead to respiratory failure, again most likely with severe National Institutes of Health.
NIH has the most complete
hydrocephalus. The age at diagnosis varies depending on the
database of rare diseases in
onset and severity of hydrocephalus, and presence of other birth the U.S.
defects or medical problems.
Representatives of patient
organizations whose medical
The clinical presentation and imaging features of DWM overlap
advisors are interested in
with isolated cerebellar vermis hypoplasia (CVH) and assisting NORD in creating a
mega-cisterna magna (MCM), and these have been classified report on a disease not
currently covered in this
together as a spectrum of anomalies known as the Dandy-Walker
database may write to

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complex. But emerging experience suggests that this is an orphan@rarediseases.org

(mailto:orphan@rarediseases.org).
oversimplification that may contribute to inaccurate information
about both outcome and genetic risks. CVH consists of a small
vermis without the striking upward rotation of the vermis, cystic Log in
enlargement of the 4th ventricle or enlarged posterior fossa that
Username
characterize typical DWM. This malformation has also been
called the Dandy-Walker variant, a potentially confusing term.
The available data regarding outcome is limited, but this is often Password
more severe than in typical DWM. MCM is characterized by an
enlarged posterior fossa despite normal or very nearly normal
size of the cerebellum. The increased size is associated with an Login
enlarged fluid collection beneath and often behind the
cerebellum. This has been reported as a normal variant, but Lost Password
emerging experience suggests that it may be associated with (https://rarediseases.org
developmental disabilities although these are usually less severe /wp-login.php?action=lostpassword
than seen in DWM or CVH. The uncertainty in prognosis for
these three overlapping conditions is accounted for by both
natural variability and difficulty in distinguishing them.

Causes
DWM results from defects in early embryonic development of
the cerebellum and surrounding structures. A few patients have
chromosome abnormalities including deletion of chromosome
3q24.3 (the location of the first DWM genes, known as ZIC1 and
ZIC4), 6p25 or 13q32.2-q33.2, or duplication of 9p. In the
remainder, it is probably due to other more complex genetic and
perhaps environmental factors (teratogens) as the recurrence
risk in siblings less than 5%. A few examples of affected siblings
with isolated Dandy-Walker malformation have been reported,
suggesting autosomal recessive or X-linked inheritance, but most
of these are probably CVH and not typical DWM. In these
families, the recurrence risk is higher, up to 25%. DWM may also
occur as part of a genetic syndrome that includes multiple birth
defects, such as the PHACES syndrome of facial hemangioma,
heart and sternal defects and DWM. Many other syndromes and
chromosome abnormalities have been reported with DWM, but
most of these appear to have CVH rather than typical DWM.

Affected Populations
The frequency of Dandy Walker malformation in the US is
approximately 1 per 25,000 -35,000 live births and affects more
females than males.

Related Disorders

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Symptoms of the following disorders can be similar to those of

Dandy-Walker malformation. Comparisons may be useful for a
differential diagnosis:

Hydrocephalus is a condition in which abnormally widened

(dilated) cerebral spaces in the brain (ventricles) inhibit the
normal flow of cerebrospinal fluid (CSF). The cerebrospinal fluid
accumulates in the skull and puts pressure on the brain tissue. An
enlarged head in infants and increased cerebrospinal fluid
pressure are frequent findings but are not necessary for the
diagnosis of hydrocephalus. There are several different forms of
hydrocephalus: communicating hydrocephalus,
non-communicating hydrocephalus or obstructive
hydrocephalus, internal hydrocephalus, normal pressure
hydrocephalus, and benign hydrocephalus. (For more information
on this disorder, choose hydrocephalus as your search term in
the Rare Disease Database.)

Walker-Warburg syndrome (WWS) is a rare genetic multisystem

disorder characterized by muscle disease and brain and eye
abnormalities. The specific symptoms and severity of WWS vary
greatly from case to case. The most consistent features are a
smooth appearance of the surface of the brain due to lack of
normal folds (lissencephaly), malformations of other brain
structures (cerebellum and brain stem), various developmental
abnormalities of the eyes, and progressive degeneration and
weakness of the voluntary muscles (congenital muscular
dystrophy). WWS is considered to be a form of muscular
dystrophy and is inherited as an autosomal recessive genetic
condition. (For more information on this disorder, choose
Walker Warburg as your search term in the Rare Disease
Database.)

Diagnosis
Dandy Walker malformation is diagnosed with the use of
ultrasound, CT and MRI. Prenatal diagnosis of Dandy-Walker
malformation is sometimes made by ultrasound or fetal MRI.

Standard Therapies
Treatment

Hydrocephalus associated with Dandy Walker syndrome is

treated with surgery to insert a tube to redirect the fluid that
surrounds the brain and to assist fluid drainage into other parts
of the body that can absorb the fluid.

A supportive team approach for children with Dandy-Waller

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malformation is often warranted and may include special

education, physical therapy and other medical, social or
vocational services.

Genetic counseling is recommended for families that have a child

with Dandy Walker malformation.

Investigational Therapies
Information on current clinical trials is posted on the Internet at
www.clinicaltrials.gov. All studies receiving U.S. government
funding, and some supported by private industry, are posted on
this government web site.

For information about clinical trials being conducted at the

National Institutes of Health (NIH) in Bethesda, MD, contact the
NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private

sources, contact:

www.centerwatch.com

NORD Member Organizations

Hydrocephalus Association (http://rarediseases.org
/organizations/hydrocephalus-association/)
4340 East West Highway Ste 950
Bethesda, MD 20814 USA
Phone: (301) 202-3811
Toll-free: (888) 598-3789
Email: info@hydroassoc.org (mailto:info@hydroassoc.org)
Website: http://www.hydroassoc.org
(http://www.hydroassoc.org)

Other Organizations
Dandy-Walker Alliance, Inc. (http://rarediseases.org
/organizations/dandy-walker-alliance-inc/)
10325 Kensington Pkwy
Suite 384
Kensington, MD 20895
Toll-free: (877) 326-3992
Email: comments@dandy-walker.org (mailto:comments@dandy-
walker.org)
Website: http://www.dandy-walker.org (http://www.dandy-
walker.org)

Dandy-Walker Syndrome Network (http://rarediseases.org

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/organizations/dandy-walker-syndrome-network/)
5030 142nd Path West
Apple Valley, MN 55124 USA
Phone: (612) 423-4008

Genetic and Rare Diseases (GARD) Information Center

(http://rarediseases.org/organizations/genetic-and-rare-
diseases-gard-information-center/)
PO Box 8126
Gaithersburg, MD 20898-8126
Phone: (301) 251-4925
Toll-free: (888) 205-2311
Website: http://rarediseases.info.nih.gov/GARD/
(http://rarediseases.info.nih.gov/GARD/)

Hydrocephalus Support Group, Inc. (http://rarediseases.org

/organizations/hydrocephalus-support-group-inc/)
1933 Mistflower Glen Ct.
Chesterfield, MO 63005-4236 USA
Phone: (636) 532-8228
Email: hydrob@earthlink.net (mailto:hydrob@earthlink.net)

National Hydrocephalus Foundation

(http://rarediseases.org/organizations/national-
hydrocephalus-foundation/)
12413 Centralia Rd.
Lakewood, CA 90715-1653 USA
Phone: (562) 924-6666
Toll-free: (888) 857-3434
Email: nhf@earthlink.net (mailto:nhf@earthlink.net)
Website: http://www.nhfonline.org (http://www.nhfonline.org)

NIH/National Institute of Neurological Disorders and

Stroke (http://rarediseases.org/organizations/nihnational-
institute-of-neurological-disorders-and-stroke/)
P.O. Box 5801
Bethesda, MD 20824
Phone: (301) 496-5751
Toll-free: (800) 352-9424
Website: http://www.ninds.nih.gov/ (http://www.ninds.nih.gov/)

References
ARTICLES

Barkovich A, Kjos B, Norman D, et al. Revised classification of

posterior fossa cysts and cystlike malformations based on the
results of multiplanar MR imaging. AJNR 1989; 10:977-988.

Bordarier C, Aicardi J. Dandy-Walker syndrome and agenesis of

the cerebellar vermis:diagnostic problems and genetic
counseling. Dev Med Child Neurol 1990:32(4):285-94.

Ecker J Shipp T, Bromley B, et al. The sonographic diagnosis of

Dandy-Walker and Dandy-Walker variant: associated findings
and outcomes. Prenat Diagn 2000;20(4):328-32.

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Grinberg I, Northrup H, Ardinger H, et al. Heterozygous deletion

of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker
malformation. Nature Genetics 2004;36:1053-1055.

Kalidasan V, Carroll T, Allcutt D. et al. The Dandy-Walker

syndrome-a 10 year experience of its management and outcome.
Eur J Pediatr Surg 1995:5 suppl 1:16-8.

Kolble N, Wisser J, Kurmanavicius J, et al. Dandy-Walker

malformation: prenatal diagnosis and outcome. Prenat Diagn
2000;20(4):318-27.

FROM THE INTERNET

Incesu L and Khosia A. Dandy-Walker Malformation. eMedicine;

last updated 10/31/03.

McKusick VA ed. Online Mendelian Inheritance in Man (OMIM).

Baltimore, MD: The Johns Hopkins University; Entry No.
220200; Last updated 2/22/05.

Years Published
1986, 1989, 1991, 1994, 1995, 1999, 2007, 2008

The information in NORDs Rare Disease Database is for educational purposes

only and is not intended to replace the advice of a physician or other qualified
medical professional.

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Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded
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