Apert syndrome

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Apert Syndrome

Apert syndrome (/əˈpɛərt/; from French, syndrome d'Apert) is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is named after the French physician, Eugène Apert, who first identified the syndrome in 1906.

Etymology

The term Apert syndrome is derived from the name of the French physician, Eugène Apert, who first described this condition. The word syndrome comes from the Greek σύνδρομον, meaning "running together," which refers to the collection of symptoms that characterize this condition.

Symptoms

Apert syndrome is characterized by a premature fusion of certain skull bones (craniosynostosis), which prevents the skull from growing normally and affects the shape of the head and face. Other features of this condition include fused fingers and toes (syndactyly), and often a cleft palate.

Causes

Apert syndrome is caused by mutations in the FGFR2 gene. These mutations lead to the premature fusion of the bones of the skull, fingers, and toes.

Diagnosis

Diagnosis of Apert syndrome can often be made at birth by physical examination. Genetic testing can confirm the diagnosis.

Treatment

Treatment of Apert syndrome often involves surgery to separate the fused bones. Other treatments may include physical therapy and speech therapy.

See also

References

External links

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