Apert syndrome

Apert syndrome is a genetic condition that affects the development of the skull, face, hands, and feet. It is one of the conditions classified under acrocephalosyndactyly, a group of inherited disorders. This syndrome is characterized by premature closure of skull bones (craniosynostosis), an underdeveloped midface, and limb differences such as fused fingers and toes (syndactyly). People with Apert syndrome often experience a combination of cranial, facial, and limb abnormalities. The condition is inherited and linked to changes in genes that control bone formation. Information provided here is based on recognized classification systems and established genetic markers associated with the syndrome.

Common symptoms of Apert syndrome include premature fusion of the skull bones, which can lead to an abnormal head shape, and midface underdevelopment. People with this condition may also have unusual features in the hands and feet, such as fused or webbed digits (syndactyly).

Apert syndrome is caused by genetic changes in the FGFR2 gene. These changes affect how bones develop, resulting in the characteristic features of the syndrome. As a genetic condition, it is typically inherited.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.