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.
Individuals with this syndrome are typically characterized by the following differences:
-taller-than-usual head shape
-shallowly-placed, protruding eyes
-short, beak-shaped nose
-small, underdeveloped lower jaw with 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
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.
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.
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