Apert syndrome is a genetic disorder in which the skull bones of infants prematurely fuse together. This causes abnormal growth of the skull and face. It is a rare condition that affects about one in 65,000 children. Some estimates put the percentage as low as one in 200,000. Although there is no known cure, surgery is often used to help correct the abnormal bone growth.
Apert syndrome is caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. The job of this gene is to produce a protein that signals the immature cells to become bone cells during embryonic development. The mutation on the gene alters the protein, which affects its ability to send the appropriate signals. As a result, the bones prematurely fuse together, which is a condition known as craniosynostasis.
The gene mutation can be genetic, but is most cases, it occurs without a known family history, and it appears to be random. In hereditary cases, Apert Syndrome is considered an autosomal dominant trait, which means that only one parent has to pass on the mutated gene for the child to inherit it. A parent with Apert Syndrome does only have a 50% chance of passing the defective gene to their child, but in most cases, the development of the mutation appears to be random.
Since it is such a rare disorder, there is little information available. There are no known risk factors for contracting the disease, and it appears to affect both male and female children equally. The random gene does appear to be associated with older fathers, though there is no conclusive evidence proving this to be a fact.
Although there is little information available about the cause of Apert Syndrome, there is a decent amount of information regarding the characteristics. Since the brain continues to grow after the bones have fused together, there is a tremendous amount of pressure on the skull and face. This causes many physical characteristics, such as a long head with a high forehead, wide set and bulging eyes, a sunken middle face, and webbing between the fingers and toes.
As a result of these physical characteristics, some children also have slow intellectual development, vision problems, obstructive sleep apnea, frequent ear infections, hearing loss, a beaked nose, an underdeveloped upper jaw, or crowding of the teeth. High and arched palates, possibly even a cleft palate is also not uncommon, along with heavy sweating and oily skin that causes severe acne.
Diagnosis and prognosis
With these characteristics, doctors can usually diagnose Apert Syndrome through a thorough physical exam and x-rays on the hands, feet, and skull. Hearing tests should also be performed, and confirmation of the diagnosis can be done through genetic testing. Surgery to current the abnormal bone growth is the typical treatment. The average age in which surgery occurs is six to nine months. The earlier the surgery occurs, the more likely the child is to lead a normal life. In some cases, follow-up surgeries or other forms of care are later required. Since there is such a wide variability in children with Apert Syndrome, the prognosis is different depending on the severity.
Although Apert Syndrome has the potential to be a life-threatening disease, with modern advances in medicine and technology, as well as the increase in knowledge about it, individuals born with this genetic mutation can live a much more normal life than in the past.