Apert Sydrome: Physical Traits

The Mouth, Palate, and Airway:
One result of the mid face being too small is that the palate, or roof of the mouth, has a very high arch. This high arch pushes up the floor of the nose, making it very difficult for children to breath through their noses. Another result of this raised nasal floor is that parents will notice that their toddler's noses seem to "run" all the time. This is frequently improved following surgery to the mid face.

The palate in Apert syndrome is more likely have a cleft (this occurs approximately 30% of the time). Typically, this cleft only affects the back of the palate (secondary palate), and rarely extends all the way to the front. If children who have had clefts repaired should later need to have a tonsillectomy, removal of the adenoids needs to be carefully considered. This is because removal of the adenoids, in children who have had cleft palate repairs, may hurt their speech.

The airway, in Apert syndrome, is nearly always compromised. Parents will notice that their children are "noisy breathers," especially at night. This may result from a number of factors. The first, already mentioned, is the small hypoplastic mid face. With a small mid-face, the nose is also reduced in size and, therefore, not as much air can get through. The roof of the mouth is lower in the back, almost touching the tongue, making the oral airway smaller. Sometimes the tongue will be slightly floppier in babies, which allows it to fall back and occlude the airway. This may be why most Apert children sleep on their sides, or stomach. Finally, the windpipe (trachea) maybe slightly narrowed; further contributing to a breathing difficulty.

The trachea is kept open by C-shaped rings of cartilage; similar to the duct that exits the back of a clothes dryer. This ring is C-shaped so that when we cough or breath deeply, it can expand. In Apert syndrome, we believe that these rings may not open normally, or in many cases are O-shaped. At our center, many of our Apert patients are seen by our pediatric pulmonologist (lung specialist). We believe that by using certain types of asthma medications, children's breathing and oxygenation are better. After a certain age, children should also be routinely followed with sleep studies on a yearly basis to measure the amounts of oxygen in their blood. Children with significant sleep apnea, or low oxygen levels are treated with medications and/or surgery (see below), in part, in order to prevent developmental delays.