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
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.