Apert's Syndrome

Description of Apert's Syndrome

Apert's Syndrome is a relatively uncommon craniofacial condition. Apert's Syndrome occurs with a frequency of one in 160,000 live births. Apert's Syndrome may be inherited with a frequency of 50% in the off-spring of an affected adult, or may develop as a spontaneous mutation.

Characteristics of Apert's Syndrome

The physical features of Apert's Syndrome were described by Frederick Apert in 1942 and include:

A tower-shaped skull due to craniosynostosis
An under-developed mid-face leading to recessed cheek bones and prominent eyes.
Malocclusion
Limb abnormalities such as webbing of the middle digits of the hands and feet

Some other features commonly seen in Apert's Syndrome are visual disturbances related to an imbalance of the muscles that move the eyes, a hearing loss due to recurrent ear infections, and varying degrees of acne. There can be a reduced intellectual capacity in some individuals with Apert's Syndrome but there are some children with Apert's Syndrome who have normal intelligence. Children with Apert's Syndrome have fusion of the bones of their fingers and toes, characterized by the "mitten-like appearance of their hands. This is called syndactyly. Cardiac and gastrointestinal malformations may be present in patients with Apert's Syndrome, which have not been described for those individuals with other syndromes.

Causes of Apert's Syndrome

The basic cause of Apert's Syndrome is linked to a single gene alteration of Fibroblast Growth Factor. Their occurrence is sporadic and extremely rare. In most cases of Apert's Syndrome, the deformity occurs from abnormal occurrence in the genes which cannot be traced to a specific cause. Usually, the parents are not affected and the risk for future children of that couple to have Apert's Syndrome is minimal. The offspring of a patient with Apert's Syndrome have a 50-60% chance of inheriting Apert's Syndrome.

Expectations and Treatment of Apert's Syndrome

Children with Apert's Syndrome may have unusual speech characteristics. They often have hyponasal resonance due to an under-developed midface, small nose, and excessively long soft palate. If there is a cleft palate, these Apert's Syndrome patients may also have hypernasal resonance. Articulation of speech sounds is often distorted due to the malocclusion and high arched palate. Impaired hearing or a general developmental delay will also effect speech and language development.

Multiple staged surgery is the plan of treatment for children with Apert's Syndrome. The best time for release of the fused sutures is between three and six months of age; it may be performed up to 18 months of age. This early surgery allows the child's brain to have plenty of room to grow. Besides release of other sutures, the frontal and other deformed bones will be repositioned (usually advanced) to correct the bulging eyes and upper facial deformities. The plastic surgeon and the neurosurgeon work with one another in the operating room to achieve the end result. If the mid-face and upper jaw still do not grow adequately, this procedure may need to be repeated in adolescence. The webbing of the fingers of some Apert's Syndrome patients is normally addressed by separation of the digits in the first years of life in order to achieve better alignment and function of the hand. Sometimes, this may require several procedures to give the child with Apert's Syndrome adequate function.

Case Study

Aperts Syndrome
Preoperative frontal view of 8-year-old patient after first cranial vault remodeling at 3 months of age. Postoperative frontal view 2 years after secondary cranial vault remodeling and Lefort III advancement. Preoperative lateral view shows facial and forehead retrusion and exorbitism as well as evidence of increased intracranial pressure. Postoperative lateral view 2 years after reconstruction.