📋Overview
Apert syndrome is a rare genetic disorder characterized by craniosynostosis, a condition where the sutures between skull bones close earlier than normal. This premature fusion affects the development of the head and face, often resulting in a recessed midface and a pointed or elongated skull shape.
The condition is primarily caused by mutations in the FGFR2 gene, which provides instructions for making a protein involved in cell signaling during bone development. In addition to craniofacial differences, individuals typically experience syndactyly, which involves the webbing or fusion of the fingers and toes.
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Additional Resources
Medical codes (for reference)
UMLS CUI: C0001193Codes are provided for reference and interoperability. They are not a diagnosis.
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