Syndromic Craniosynostosis

Also known as: craniosynostosis.

What is syndromic craniosynostosis?

When an infant is born, the bones that make up the skull are typically not joined together fully. Craniosynostosis occurs when the skull bones are joined together prematurely. Syndromic craniosynostosis is related to a genetic condition that causes  premature fusion of the skull bones and other clinical features most often involving the head and face.

What causes syndromic craniosynostosis? 
With syndromic craniosynostosis, affected individuals have fused skull bones and other physical or neurological anomalies. These findings are usually caused by a DNA change that is inherited from an affected individual’s parent or occurred for the first time in the affected person.

What are the symptoms of syndromic craniosynostosis?
Infants with syndromic craniosynostosis often have multiple skull and facial deformities, including an unusual shaped head, bulging eyes, difference in nose shape such as a flat bridge of the nose. Developmental delays, breathing problems, differences in the hands and feet, and hearing loss are other common issues.

What are syndromic craniosynostosis care options?
While there is  no cure for syndromic craniosynostosis. Treatment may involve surgery, as well as various therapies and procedures to help with breathing, feeding and various other concerns that may arise.

Reviewed by: Mislen S Bauer, MD

This page was last updated on: 4/6/2018 8:56:01 AM

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