Apert Syndrome

What is Apert Syndrome

Apert syndrome is a genetic disorder that can affect the shape of the head and face, due to abnormal development of the skull. An infant’s skull is made up of a number of boney plates that are held together by fibrous elements called “sutures.” This allows the head to continue growing as the brain gets larger.

If, however, those sutures fuse prematurely, it can prevent the skull from growing naturally and distort the shape of the head and face.

Apert syndrome can also contribute to other types of birth defects, such as fingers and toes fusing together.

This syndrome is caused by a rare mutation on a single gene and is estimated to affect 1 in 65,000 to 88,000 newborns. While there is no cure for it, we can help correct some of the complications that arise from it.

Treating Apert Syndrome

Every case is different, so at the Cleft & Craniofacial Institute of Utah we diagnose and treat each patient individually, and our recommendations will be based on how your child is affected by the syndrome.

Our goal is to help your child have as normal life as possible, so we focus on:

• Easing breathing
• Keeping the brain healthy
• Protecting the eyes
• Reshaping the skull
• Improving appearance
• Repairing webbed hands and feet

Untreated Apert Syndrome

The premature fusion of the skull bones leads to many of the characteristic features associated with Apert syndrome. Since the bones cannot move and grow after they’ve fused together, the head is unable to develop normally.

This can create a sunken appearance in the middle of the face as well as bulging or wide-set eyes, an underdeveloped upper jaw (which contributes to several dental problems) and a beaked nose. Shallow eye sockets are also a common feature of this syndrome, which can lead to vision problems.

Finally, the fusion of the skull bones can even affect the development of the brain, potentially disrupting intellectual development and cognitive abilities, leading to mild to moderate intellectual disability.

Additional Information

Contact the Cleft & Craniofacial Institute of Utah today and learn more about this type of craniofacial syndrome and how we can help.