Apert Syndrome

By: Jozie Arenz

What is Apert Syndrome?

Apert Syndrome, or AS, is a genetic disorder that causes premature bone fusion, resulting in abnormal growth. This condition affects the shape of your head and face.

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Symtoms

The most common symptoms of AS are having sunken appearance in the middle of the face, protruding and wide-set eyes, beaked nose, fused fingers and toes, ear infections/hearing loss, short height, a large soft spot on the skull, and an underdeveloped and crowded jaw. People affected by AS typically have vision problems because of their abnormal eyes and also need various treatments for their teeth and jaw. Intellectual ability can range from slight to moderate disabilities. Less common symptoms include extra toes or fingers, oily skin, severe acne, and extreme sweating.

Causes

AS is inherited as an autosomal dominant trait, meaning that only one parents needs to pass down the gene for their child to have the genetic disorder. This condition is caused by one of two changes to the FGFR2 gene, which causes some of the bony sutures of the skull to close too soon. These two new mutations in the FGFR2 gene, a gene that directs the development of bone formation, was found by scientists in 1995.

Research

E. Apert, a French physician, first reported this syndrome in 1906. He discovered the symptoms and different abnormalities that comes with this genetic disorder.


Researchers have found that most of the time, AS is sporadic and the parents are not affected. It is a new mutation in the gene that causes the offspring to be affected. An affected parent has a 50% chance of passing down this condition to their child. Further research was done, and it was found out that the father who passed on this trait was usually over 30 years of age. No explanation has been found for this strange finding. Genetic researchers noted that one mutation (of the two that were found in the FGFR2 gene) resulted in a much more improved facial appearance after corrective surgery. The other mutation produced a more severe form of syndactyly (having fingers and toes fused together).

Treatments

The most effective treatment for AS begins with the correct diagnosis at birth. A craniofacial team should be involved right from the start, so they can minimize the number of appointments and corrective surgeries. Corrective surgeries are done to reshape the tower skull. The average age for these operations is about 4-8 months. From ages 5-9, the child will go through another surgical procedure called a midface advancement. This will correct the sunken in appearance in the middle of the face. Corrective facial surgeries are continued until the patient is fully grown. Treatments can be done to fix the fingers and toes. To help the ear problems, plastic tubes can be placed in the ears to prevent hearing loss from the frequent infections. There are also various treatments to help the jaw and teeth issue. An orthodontist and oral surgeon can help with these problems. Emotional support is required for the patient and the family because AS can be a devastating diagnosis. Doctors and therapists can help and guide you along this hard journey.

Sources

"Apert Syndrome." Genetics Home Reference. U.S. National Lib of Medicine, 28
Mar. 2016. Web. 5 Apr. 2016. <https://ghr.nlm.nih.gov/condition/
apert-syndrome>.


Fundukian, Laurie J. "Apert Syndrome." The Gale Encyclopedia of Genteic
Disorders. 2010. Gale Virtual Reference Library. Web. 4 Apr. 2016.


Haldeman-Englert, Chad. "Apert Syndrome." Mediline Plus. National Lib of
Medicine, 8 Sept. 2013. Web. 5 Apr. 2016. <https://www.nlm.nih.gov/
medlineplus/ency/article/001581.htm>.