Apert Syndrome

What is Apert Syndrome?

Apert syndrome is a rare hereditary condition that affects about one in every 160,000 births. Children with Apert syndrome have premature closure of the cranial sutures (craniosynostosis) and skin fusion (syndactyly) of the hands and feet. Most commonly, the second, third and fourth digits are fused, which informally is called “mitten glove.”

The intelligence of individuals affected with Apert syndrome is highly variable. Varying degrees of mental deficiency have been associated with the condition, although some individuals are of normal intelligence. The outcome for children at risk for developmental delays may be positively influenced by early intervention and proper education throughout life.

Certain congenital anomalies are more common in children with Apert syndrome. These include structural abnormalities of the central nervous system, gastrointestinal anomalies, respiratory anomalies and increased risk for cardiac anomalies and genitourinary defects. Fusion of the cervical vertebrae occurs in more than two-thirds of patients – which makes radiographic study of the cervical spine imperative before undertaking anesthesia for surgery.

Linear growth of individuals with Apert syndrome tends to decelerate during childhood and especially after adolescence, when it can become more pronounced. During adolescence, moderate to severe acne is common.

What causes Apert syndrome?

Apert syndrome is the result of a genetic change (mutation) in a gene called FGRF2 – “fibroblast growth factor receptor 2” – on chromosome 10. This is an autosomal dominant condition, which means you only need to get the abnormal gene from one parent to inherit the disease. The vast majority of Apert syndrome cases occur sporadically as a result of a new mutation.  Athough studies have noticed a higher occurrence in children with older fathers, this condition can occur in children born to parents of all ages.

If you have Apert syndrome, you have a one in two (50 percent) chance of passing the condition on to your child. An unaffected child of a parent with Apert syndrome has no more chance of passing it on than a child in a family with no history of this condition.

For families in which a gene mutation is identified, prenatal diagnostic testing is a possibility.

How is Apert syndrome treated?

Treatment often includes early surgery to correct the abnormal bone growth of the skull, mid-face and jaw. Some findings suggest that early neurosurgical intervention does not eliminate all risk for mental disability, some of which is thought to be related to subtle brain malformations.

In the Division of Plastic and Maxillofacial Surgery, we take an interdisciplinary approach to this condition. Our medical team typically includes craniofacial surgeons; neurosurgeons; ear, nose and throat specialists; oral surgeons and orthodontists; speech pathologists; and ophthalmologists.

For more information, contact our Craniosynostosis Center.