Apert Syndrome

What is Apert Syndrome?
Apert syndrome is a genetic defect that has mostly to do with the limbs. It occurs approximately every 1 in about 180,000 births. Apert syndrome is primarily characterized by specific malformations in the skull, midface, hands, and feet. The skull is usually not able to grow normally; the midface ( that area of the face from the middle of the eye socket to the upper jaw) appears sunken in, and the fingers and toes are fused together in varying degrees. Apert syndrome is named after the French physician who first described it, E. Apert, in 1906.

The Skull
In a normal child, the skull is made up of several "plates" which remain loosely connected to one another, gradually growing together to form an adult skull. The skull in a child affected with Apert syndrome has a premature fusion of these plates, restricting brain growth, and causing increased pressure in the brain as it grows. Early surgery relieves the pressures by allowing the plates to be detached from one another. During this surgery some "cranial remodeling" can be done to make the child have a more normal appearance.

The Mid-face
The mid-face can be described as a concave or dished in profile. As the skull grows, the upper and lower thirds of the face tend to grow at normal rates, but the middle third of the face grows slower, resulting in a more pronounced cave in of the face over time. A surgery known as LeFort III can be done to correct this condition. The surgery is done after the substantial growth is complete. This process may be repeated as necessary.

The Hands and Feet
The fusion of the fingers and toes along with the craniofacial problems mentioned above are really what separate Apert syndrome from other similar conditions. It always involves fusion of the first, middle, and ring finger, and often there is a fusion of the bones themselves. Surgery is used to separate the fingers to obtain the highest degree of functionality, and may or may not ultimately result in five digits on each hand. It varies according to the degree of malformation.