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Apert Syndrome - Medical Condition Information

Apert Syndrome

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Apert syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), leading to abnormal head shape and facial features, along with syndactyly (fusion) of fingers and toes. It is caused by mutations in the FGFR2 gene. Apert syndrome is part of a group of conditions called craniosynostosis syndromes.

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Medical codes (for reference)

UMLS CUI: C0001193
ICD-10-CM
Q87.0
MeSH
D000168
SNOMED CT (US)
205258009

Codes are provided for reference and interoperability. They are not a diagnosis.

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