Apert syndrome

A genetic disorder characterized by the premature fusion of certain skull bones

Apert syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones, a condition known as craniosynostosis. This early fusion prevents the skull from growing normally and affects the shape of the head and face. Apert syndrome is also associated with syndactyly, where fingers and toes are fused together.

Genetics

Apert syndrome is caused by mutations in the FGFR2 gene, which provides instructions for making a protein involved in the development and maintenance of bone and tissue. The mutations lead to the abnormal fusion of bones, particularly in the skull, hands, and feet. The condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.

Signs and Symptoms

Individuals with Apert syndrome typically present with:

• Craniosynostosis, leading to a brachycephalic (short and broad) skull shape.
• Midface hypoplasia, where the middle of the face appears sunken.
• Syndactyly of the fingers and toes, often involving fusion of the second, third, and fourth digits.
• Intellectual disability, which can vary from mild to moderate.
• Hearing loss due to ear abnormalities.
• Dental problems, such as crowded teeth and malocclusion.

Diagnosis

Diagnosis of Apert syndrome is based on clinical examination and the characteristic physical features. Genetic testing can confirm the presence of mutations in the FGFR2 gene. Prenatal diagnosis is possible through amniocentesis or chorionic villus sampling if there is a known family history of the condition.

Treatment

Management of Apert syndrome requires a multidisciplinary approach, involving:

• Craniofacial surgery to correct skull and facial deformities.
• Orthopedic surgery to separate fused fingers and toes.
• Speech therapy and occupational therapy to support developmental needs.
• Regular monitoring and treatment of hearing loss and dental issues.

Prognosis

The prognosis for individuals with Apert syndrome varies depending on the severity of symptoms and the success of surgical interventions. With appropriate treatment, many individuals can lead fulfilling lives, although they may require ongoing medical care and support.

Related pages

• Craniosynostosis
• Syndactyly
• FGFR2
• Genetic disorder