Apert syndrome

Alternative names:

acrocephalosyndactyly type 1

Definition:

An inherited disease or a sporadically occurring disease characterized by premature closing of cranial sutures, resulting in a peaked head and an unusual facial appearance.

Causes, incidence, and risk factors:

The inherited form of Apert syndrome is transmitted as an autosomal dominant trait. Other cases appear spontaneously without a family history. In this condition, many of the bony sutures of the skull close prematurely, giving the head a distorted shape. The face is peculiar looking and full-length webbing or fusion may occur between the 2nd, 3rd and 4th fingers, as well as the toes. The bones in the hands and feet become progressively fused, reducing flexibility and function.

There are several syndromes with closely related appearance and findings:

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