Apert syndrome carries with it the risk of early death due to associated conditions. However, those with the condition that survive to adulthood can expect a normal lifespan. So, is there an Apert syndrome life expectancy?
Due to the absence of certain cell death genes that allow the skin between fingers and toes to be removed during the growth of a fetus, people with Apert Syndrome have 'webbing' of hands and feet. The human skull features cranial sutures that allow flexibility as the brain grows during foetal development. In the case of those with Apert syndrome, these sutures fuse prematurely, while the brain continues to grow within. This places pressure on the structure of the rest of the skull, leading to a lengthened skull, exophthalmic eyes, and a sunken middle portion of the face.
There are associated symptoms of Apert syndrome, including hearing loss, restricted breathing (leading to sleep apnea in some cases), limited intellectual development, and repeated infections of the ear and/or sinuses. More serious conditions, in particular, heart defects, mean that someone with Apert syndrome has a higher risk of dying at a young age.
Apert syndrome is due to a rare genetic mutation. Incidence of Apert Syndrome is not higher depending on gender, and the condition does seem randomly distributed. It does, however, have predilections towards certain races, with the Asian population having the highest incidence (at 22.3 cases per million live births) and the Hispanic population experiencing the lowest (at 7.6 cases per million live births).
Apert Syndrome is usually diagnosed at birth with the observance of the misshapen skull (craniosynostosis) and the fused digits of hands and feet (syndactyly).
Genetic testing is used to confirm whether Apert Syndrome, or a different condition, is responsible for these conditions.
There is no known cure for Apert Syndrome. If left untreated, the fact that the brain develops inside an inflexible skull presents many health risks. The usual treatments can be listed as:
The most crucial treatment is the addressing of the cranial sutures, as if these are left untreated, continued brain growth poses a major health risk. Surgeons will often work in collaboration to ensure that the different sections of the face and skull are re-positioned so as to allow for brain development. This surgery will usually take place when the child is between six and eight months.
As the child grows, it is likely that mid-face surgery will also be required. The surgeon will seek to re-align the mid face to be on a normal plain. At between four and 12 years old, this surgery is usually carried out. It may also be necessary to carry out this surgery again once the child is fully grown.
Surgery may also be carried out to bring the eyes closer together, as Apert Syndrome leads to Hypertelorism. This is done by removing a section of the skull between the eyes.
All major surgery carries a risk, and these examples are no exception. If the cranial surgery is not carried out at a very early stage of the child's development, there is a much-heightened risk of limiting the child's intellectual development.
There is a wide range of prognoses when it comes to Apert Syndrome, and it is not known why it presents such a varying level of risk in different cases.
If a child survives childhood with no associated heart conditions, they are likely to experience normal Apert syndrome life expectancy. The life expectancy associated with this condition is improving, most probably due to advances in surgery that mean the early cranial surgery can be performed at a higher standard, thus safeguarding the child's future more effectively. This improvement in the prognosis is also due to the care that patients receive after surgery.
The sooner the treatments can be administered, the better the prognosis for Apert Syndrome life expectancy.
People with Apert Syndrome face a higher chance of death at a young age, due to a wide range of associated health risks, including heart defects, Hydrocephalus, Polycystic Kidneys, and Pulmonary Atresia. However, if the child does survive to adulthood, they have a very strong chance of experiencing a normal life span.