Apert Syndrome

Genetic Craniofacial and Limb Disorder

Apert syndrome is a craniofacial (head and face) and limb disorder caused by a genetic defect on chromosome 10 (98 percent of cases). Usually there is no family history of the syndrome. In the United States, Apert syndrome occurs in approximately 15.5 infants per million births. People of Asian heritage have the highest prevalence (22.3 per million births), and people of Hispanic heritage have the lowest prevalence (7.8 per million births). It occurs in both boys and girls.

Symptoms

Children born with Apert syndrome have distinctive malformations of the head, face and limbs:

• craniosynostosis - In an infant, the bones of the skull are not yet closed together, to allow for growth of the head. In children with Apert syndrome, the bones are abnormally fused together, sometimes before the child is born.
• midface hypoplasia - the middle of the face is underdeveloped, leading to a concave-looking face. The bridge of the nose looks sunken in. The eyes are set widely apart and often protrude out of the sockets.
• syndactyly - In the hands, the 2nd, 3rd, and 4th fingers (sometimes the 5th finger also) are fused together into one (called "mitten hands") and the thumb may stick out to the side. In the feet, the same thing (fusion) happens with the toes (called "sock feet").
• cervical spinal fusion - In 68% of children affected, some of the bones in the neck are fused together.

There may be other less common physical problems that occur with Apert syndrome, such as heart or kidney defects.

Diagnosis

Since a child is born with Apert syndrome, it is usually diagnosed at birth by the physical signs. The finger and toe fusions (syndactyly) distinguish Apert syndrome from other craniofacial disorders.

Treatment

There are surgical procedures that can correct some of the problems present in Apert syndrome.

• Correction of craniosynostosis by separating the abnormally fused skull bones to allow for growth of the head, usually done in stages starting in infancy
• Correction of midface hypoplasia using the Ilizarov procedure, which opens up the bones of the middle of the face and stimulates them to grow, usually done when the child is between 6-11 years old
• Surgical separation of fingers and toes (if possible) may provide a better appearance but not better function.

Many specialists are usually involved in the care of a person with Apert syndrome. Early intervention combined with a supportive home environment helps the child achieve his or her maximum potential for growth and development.

_Sources:

"What is Apert Syndrome?" The Craniofacial Forum. Apert Support and Information Network. 21 Sep 2008

"Apert Syndrome." Index of Rare Diseases. Natrional Organization for Rare Disorders. 21 Sep 2008