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📋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.
Additional Resources
Medical codes (for reference)
UMLS CUI: C0001193Codes are provided for reference and interoperability. They are not a diagnosis.
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