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.

 

Our Expertise

Cleft Lip/Palate

 Cleft lips and palates are one of the most common birth anomalies that affect about 1/600 newborn babies in the United States and around 1/500 in the state of Utah.  Clefts can range from quite mild to fairly severe.  Most of the time they are an isolated anomaly, but are also associated with a number of gentic syndromes.  Depending on what structures are involved dictates the complexity of the treatment plan.   Our team works together with you to make a customized plan for  your baby.  Even the most severe of cases should be able to be treated with only a few surgical interventions by a well coordinated and efficient team.

 

 

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Craniosynostosis

The skull is made up of several different bones that are joined together by growth plates called "sutures."  Craniosynostosis is a condition where one or more of these sutures fuse prematurely causing an abnormal head shape, decreased cranial volume, and the possiblilty of raised intracranial pressure.  The treatment of craniosynostosis is surgical and the goals of surgery are to increase the volume of the skul and to correct the abnormal appearance of the head shape.  There are two methods of surgical correction: open vault reconstruction and strip craniectomy.  Dr. Griner's extensive training allows him to perform these complex procedures without the need for blood transfusions and spending only 1-2 nights in the hospital. 

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Syndromes

There are many syndromes that can affect the shape of the head and face and include Aperts, Crouzon, Pfieffer, Treacher Collins, and many others.  Most of these syndromes include many other complex anomalies and need to be treated in a coordinated approach in order to reduce the number of operations the child will need.  These syndromes are rare and require specialists that are very familiar with the intricacies of each syndrome.  Dr. Griner's unique training provided him with extensive experience with craniofacial syndromes and makes him the premier choice to guide the management of your child's needs in Utah.

 

 

 

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Ear Deformities

Ear deformities range from mild changes in shape to the complete abscence of an ear and deafness.  Mild deformities can be treated in the first few weeks of life while others will require reconstructive surgery and hearing aids.  No matter the severity, our specialists work together to provide normal appearance and improved hearing.

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Staged palate repairs

Staged palate repairs were implemented to try and reduce the chance of stunting the upper jaw growth and needing to have it surgically advanced later in life, while at the same time allowing normal speech to develop.  We know from several studies that the growth of...

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