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
- Poor intellectual development
- Obstructive sleep apnea
- Repeated ear or sinus infections
- Hearing loss
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:- Separating the abnormally fused skull bones and rearranging them
- Midface advancement as the child grows and the facial bones become misaligned again
- Correction of wide-set eyes (hypertelorism correction)
- 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?
Apert Syndrome Articles
Three-Year-Old Living with Apert Syndrome Needs Help to Afford Treatment
James Moore
March 30, 2023
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What to Know to Help During National Cleft And Craniofacial Awareness Month
Jean Martell
July 12, 2019
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A Palestinian Girl’s Life Was Saved After Getting Treatment for Her Apert Syndrome in Kentucky
James Moore
April 11, 2018
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Jacob Engram is Vicksburg Police Department’s First Junior Officer
James Moore
January 4, 2018
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