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Book

Apert Syndrome

Torin Karsonovich  1 , Bhupendra C. Patel  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Free Books & Documents
Book

Apert Syndrome

Torin Karsonovich et al.
Free Books & Documents

Excerpt

Apert syndrome, also known as acrocephalosyndactyly type I, is a genetically inherited syndrome characterized by multisuture craniosynostosis, midface retrusion, and syndactyly. The syndrome was first described in 1906 by French physician Eugene Apert, who described 9 people with similar facial and extremity characteristics.

The condition is caused by mutations in the FGFR2 gene, which encodes a protein that regulates cell and bone growth, crucial for normal skull, face, and limb formation. The genetic anomalies lead to abnormal bone development. Advanced paternal age is a significant risk factor for de novo mutations in Apert syndrome. Diagnosis is based on clinical features, supported by genetic testing for FGFR2 mutations. Treatment often involves surgical correction of craniosynostosis and syndactyly, alongside supportive therapies. With early intervention, affected individuals can have a near-normal life expectancy, though they may experience developmental and neurological challenges.

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Conflict of interest statement

Disclosure: Torin Karsonovich declares no relevant financial relationships with ineligible companies.

Disclosure: Bhupendra Patel declares no relevant financial relationships with ineligible companies.

References

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