Apert Syndrome

Apert syndrome is a rare genetic disorder that causes abnormal development of the skull. Babies with Apert syndrome are born with a distorted shape of the head and face.

Causes of Apert Syndrome

  • Apert syndrome is caused by a rare mutation on a single gene.

  • This mutated gene is normally responsible for guiding bones to join together at the right time during development.

  • In almost all cases, the Apert syndrome gene mutation seems to be random.

  • Only about one in 65,000 babies is born with Apert syndrome.

Symptoms of Apert Syndrome

The abnormal skull and facial growth in Apert syndrome produce its main signs and symptoms:

  • A head that is long, with a high forehead

  • Wide-set, bulging eyes, often with poorly-closing eyelids

  • A sunken middle face

Other Apert syndrome symptoms also result from the abnormal skull growth:

  • Poor intellectual development (in some children with Apert syndrome)

  • Obstructive sleep apnea

  • Repeated ear or sinus infections

  • Hearing loss

  • Crowded teeth due to underdevelopment of the jaw

Diagnosis of Apert Syndrome

Doctors often suspect Apert syndrome or another craniosynostosis syndrome at birth because of a newborn’s appearance. Genetic testing can usually identify Apert syndrome or another cause of abnormal skull formation.

Treatment of Apert Syndrome

In general, surgery for Apert syndrome takes place in three steps:

  • Release of skull bone fusion (craniosynostosis release): A surgeon separates the abnormally fused skull bones and partially rearranges some of them. This surgery is usually performed when a child is between ages 6 and 8 months.

  • Midface advancement: As the child with Apert syndrome grows, the facial bones again become misaligned. A surgeon cuts the bones in the jaw and cheeks and brings them forward into a more normal position. This surgery may be done at any time between ages 4 and 12. Additional corrective surgery may be needed, especially when midface advancement is done at a young age.

  • Correction of wide-set eyes (hypertelorism correction): A surgeon removes a wedge of bone in the skull between the eyes. The surgeon brings the eye sockets closer together, and may adjust the jaw, too.

Other Apert syndrome treatments include:

  • Eyedrops during the day, with lubricating eye ointment at night; these drops can prevent the dangerous eye drying that can occur in Apert syndrome.

  • Continuous positive airway pressure (CPAP); a child with Apert syndrome and obstructive sleep apnea may wear a mask at night, attached to a small machine. The machine delivers pressure that keeps the child’s airways open during sleep.

  • Antibiotics. Children with Apert syndrome are prone to ear and sinus infections caused by bacteria, requiring antibiotic therapy.

  • Surgical tracheostomy, or placement of a breathing tube in the neck; this surgery may be done for children with severe obstructive sleep apnea due to Apert syndrome.

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