Apert syndrome was named for French pediatrician Eugene Apert (1868-1940). In 1906, he documented multiple cases of congenital skull malformations that later came to be known as Apert syndrome.

Apert Syndrome Characteristics

Individuals with this syndrome are typically characterized by the following differences: 
   -taller-than-usual head shape
   -recessed mid-face
   -shallowly-placed, bulging eyes
   -short, beak-shaped nose
   -small, underdeveloped lower jaw and an open bite
   -compromised sound conduction and hearing loss
   -cervical spine abnormalities
   -bone fusion and/or webbing of the fingers of both hands and the toes of both feet
Additional characteristics that may be present include:
   -cleft palate (in 30 percent of cases)
   -reduced intellectual capacity
   -cardiac malformations
   -gastrointestinal malformations

Apert Syndrome Treatment

Treatment may include surgical release of any fused skull sutures, release and repair of fused/webbed digits, palatal closure, ear tubes, speech therapy, staged orthodontics, mid-face advancement, and possibly, eye surgery.

What is the Cause of Apert Syndrome?

Present at birth, Apert syndrome is caused by an early closing (fusion) of the skull's side (coronal) sutures, resulting in a variety of symptoms. Apert syndrome is relatively rare, as it occurs with a frequency of one in 160,000 live births.

A baby’s skull is comprised of separate bones connected by sutures, rather than fused bone. These sutures allow the skull to expand as the brain grows. If any (or all) of these sutures close prematurely, the skull cannot grow/form as it usually would, resulting in what is known as craniosynostosis.  

In the case of a craniosynostosis-related syndrome, current research points to problems in the genes responsible for producing proteins to regulate cell growth rate and/or cell growth limits. Apert, Crouzon, Muenke, Pfeiffer, and Saethre-Chotzen syndromes fall into this craniosynostosis-related category.

During early development in the womb, a baby's FGFR-2 protein is supposed to direct immature cells to become bone cells. This protein also tells immature cells when to stop becoming bone cells. However, in craniosynostosis, we believe the FGFR-2 gene may not produce the FGFR-2 protein properly, so that it doesn’t know when to stop telling tissue to become bone. Without clear, “stop bone production” information, the soft sutures of the skull form fused bone before they should—leading to abnormal growth patterns.

The cause of Apert syndrome is a gene alteration, which is sporadic. There is no connection between anything the mother did (or didn’t do) to cause her baby to have Apert syndrome. If both parents do not have Apert syndrome, their chances of having another child with Apert is minimal. If a parent has Apert syndrome, the chances that one or all of his/her children will have it are approximately 50 percent.

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