Apert Syndrome

What is Apert syndrome?

Apert syndrome is a rare genetic disorder that is characterized by an abnormal development of the skull, which is seen in babies with a distorted shape of the head and face. In addition, many children also have other birth defects and mental retardation.

What causes Apert syndrome?

Apert syndrome is caused by a mutation on a single gene that is normally responsible for guiding bones to join together at the right time during development. This mutated gene causes the bones in the skull to fuse together prematurely, which puts pressure on the bones in the skull and face (also known as craniosynostosis). In almost all cases of Apert syndrome, this mutation is random and occurs spontaneously.

What are the symptoms of Apert syndrome?

The abnormal skull and facial growth characteristic of Apert syndrome produces the main signs and symptoms of the disease. The main physical symptoms include:

• Long head with a high forehead
• Wide-set, bulging eyes, often with poorly-closing eyelids
• A sunken, middle face

Complications from these physical abnormalities include:

• Poor intellectual development
• Obstructive sleep apnea
• Repeated ear or sinus infections
• Hearing loss

Besides the symptoms from craniosynostosis, Apert syndrome can cause abnormal fusion of the bones in the hands and feet (syndactyly), or heart, gastrointestinal, or urinary system problems.

How is Apert syndrome diagnosed?

Apert syndrome is usually diagnosed at birth due to the newborn’s appearance, but sometimes it can be diagnosed prenatally by a fetoscopy or ultrasound. Genetic testing can confirm a diagnosis and CT and MRI scanning can help evaluate the various complications of the disease.

What are the available treatments for Apert syndrome?

Even though Apert syndrome has no cure, surgery can help correct some of the problems that can result from the condition. In general, surgery for Apert syndrome occurs in three steps:

1. Separating the abnormally fused skull bones and rearranging them
2. Midface advancement as the child grows and the facial bones become misaligned again
3. Correction of wide-set eyes (hypertelorism correction)

In addition to surgery, the following treatments may also be administered to Apert syndrome patients:

• Eye drops during the day and lubricating eye ointment at night
• Continuous positive airway pressure (CPAP) to keep airways open during sleep
• Antibiotics for infections that arise
• Surgical tracheostomy for severe sleep apnea

Where can I find more information on Apert syndrome?

• National Organization for Rare Disorders (NORD)
• WebMD
• U.S. National Library of Medicine