Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome is a rare genetic disorder characterized by a combination of specific abnormalities. These include craniosynostosis, a condition where the sutures in a baby's skull fuse prematurely; Dandy-Walker malformation, a congenital brain malformation; and hydrocephalus, a condition characterized by an excessive accumulation of cerebrospinal fluid in the brain.

Craniosynostosis

Craniosynostosis is a birth defect that causes one or more of the fibrous joints between the bones of a baby's skull (called cranial sutures) to close prematurely (fuse), before the baby's brain is fully formed. Brain growth continues, giving the head a misshapen appearance. Craniosynostosis usually involves fusion of a single cranial suture, but can involve more than one of the sutures in a baby's skull (complex craniosynostosis).

Dandy-Walker malformation

Dandy-Walker malformation is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. The key features of this malformation 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.

Hydrocephalus

Hydrocephalus is a condition that occurs when there is an overproduction, obstruction, or lack of absorption of the cerebrospinal fluid (CSF) that is found in the ventricles (cavities) of the brain. This can lead to an increase in intracranial pressure which can result in enlargement of the head, convulsion, tunnel vision, mental disability, and even death.

Genetics

The exact genetic cause of Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome is currently unknown. However, it is believed to be inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Treatment

Treatment for Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome is symptomatic and supportive. This may include surgery to correct craniosynostosis and/or to manage hydrocephalus. Regular follow-up with a team of specialists is recommended to monitor the child's development and manage any other health issues as they arise.

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