Apert

Apert Syndrome

A child with Apert Syndrome

Apert Syndrome, also known as Acrocephalosyndactyly, is a rare genetic disorder characterized by abnormal growth of the skull and facial bones, as well as fused fingers and toes. It is named after the French physician Eugène Apert, who first described the condition in 1906.

Symptoms

Individuals with Apert Syndrome typically exhibit a combination of physical abnormalities. The most noticeable feature is the premature fusion of the skull bones, leading to a misshapen head and face. This condition, known as craniosynostosis, can cause various complications, including increased pressure on the brain and potential developmental delays.

In addition to craniosynostosis, individuals with Apert Syndrome often have syndactyly, which is the fusion of fingers and toes. This fusion can affect both the hands and feet, leading to limited mobility and functional impairment. Other common symptoms include wide-set, bulging eyes, a beaked nose, and dental abnormalities.

Causes

Apert Syndrome is caused by a mutation in the FGFR2 gene, which is responsible for regulating the growth and development of bones and tissues. This mutation occurs spontaneously and is not inherited from parents. However, individuals with Apert Syndrome have a 50% chance of passing the condition on to their children.

Diagnosis

Diagnosing Apert Syndrome typically involves a physical examination, medical history review, and genetic testing. The physical examination focuses on identifying the characteristic features of the syndrome, such as craniosynostosis and syndactyly. Genetic testing can confirm the presence of the FGFR2 gene mutation.

Treatment

The treatment of Apert Syndrome often requires a multidisciplinary approach involving various medical specialists. Early intervention is crucial to address the potential complications associated with craniosynostosis and syndactyly.

Surgical procedures are commonly performed to correct the craniosynostosis and reshape the skull. These procedures aim to relieve pressure on the brain and improve the overall appearance of the head and face. Additionally, surgeries may be performed to separate fused fingers and toes, allowing for improved hand and foot function.

Support and Resources

Living with Apert Syndrome can present unique challenges for individuals and their families. Fortunately, there are several support groups and resources available to provide assistance and guidance. These organizations offer emotional support, educational materials, and access to medical professionals specializing in the management of Apert Syndrome.

See Also

• Craniosynostosis
• Syndactyly
• Genetic Disorders