Apert syndrome

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Apert syndrome

Apert syndrome is a genetic disease. It can be inherited, or it may occur without a known family history. It is characterized by premature closure of the seams between the skull bones, which results in a peaked head and an unusual facial appearance.

Apert syndrome is transmitted as an autosomal dominant trait, which means that only 1 parent needs to have the condition for a child to be affected. Some cases also appear spontaneously without a family history. The condition is caused by mutations in a gene called fibroblast growth factor receptor 2.

This mutation causes some of the bony sutures of the skull to close prematurely (craniosynostosis), which can cause asymmetric growth and give the head a distorted shape. The face is distinctive-looking and there may be full-length webbing or fusion between the 2nd, 3rd and 4th fingers, as well as the toes. As the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function.

There are several other syndromes which have a similar appearance and include craniosynostosis (premature suture fusion):

• Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)
• Crouzon disease (craniofacial dysostosis)
• Saethre-Chotzen syndrome
• Pfeiffer syndrome

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