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.

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