What is Dandy-Walker Syndrome?
by
PSN Team 
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What is Dandy-Walker Syndrome?
Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid filled spaces around it.
The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the cerebellar vermis (the area between the two cerebellar hemispheres), and cyst formation near the internal base of the skull. An increase in the size of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.
The syndrome can appear dramatically or develop unnoticed.
How is Dandy-Walker Syndrome Diagnosed?
Ultrasonography (ultrasound) and magnetic resonance imaging (MRI) of the brain.
What are the Most Common Characteristics?
Infants
• Slow motor development
• Progressive enlargement of the skull
Older Children
• Increase of brain pressure
• Irritability
• Vomiting
• Convulsions
• Bulging at back of skull
• Cerebellar dysfunction: problems with portion of brain controlling movement of voluntary muscles
• Unsteadiness
• Lack of muscle coordination
• Jerky movement of the eyes
• Central nervous system dysfunction: Lack of control of the eyes, face or neck
• Malformations of the heart, face, limbs and fingers or toes
Treating or Treatments?
Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems or any other associated malformations, if needed. Many individuals find therapeutic interventions (OT, PT, Speech Therapy) helpful in reducing symptoms or gaining any delayed skills. A special tube to drain off excess cerebral spinal fluid may be placed inside the skull reducing intracranial pressure and controlling swelling for a condition called hydrocephalus, should it exist.
Who should I consult if I suspect?
Medical specialists include perinatology, genetics and neurosurgery and neurology.
Families may contact the Dandy-Walker Alliance directly (1-877-326-3992 or through www.dandy-walker.org/contact-us) for any questions, information requests or support.
Dandy-Walker Syndrome helpful learning strategies.
Early and accurate diagnosis is key. Understand that many families given a grim in utero prognosis which doesn’t turn out to be correct. Research is advancing quickly and many individuals with Dandy-Walker Syndrome lead full and happy lives.
What are the first steps to take?
Early intervention with therapies (OT, PT and Speech Therapy) can be very beneficial.
About Dandy-Walker Alliance
The Dandy-Walker Alliance disseminates information worldwide, provides outreach and support to families, produces educational publications, hosts awareness events and programs, and funds research activities for the most common malformation of the hindbrain region, Dandy-Walker Syndrome.
In 2014 we funded the largest ever whole exome sequencing research project of Dandy-Walker Syndrome samples worldwide. We also launched a worldwide Dandy-Walker Patient Registry allowing individuals diagnosed with Dandy-Walker (as well as their family members and researchers) to gather and share information and health history in a safe, confidential, online database.
For more information, please visit: www.dandy-walker.org
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