Course:MEDG550/Student Activities/Apert Syndrome

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Apert Syndrome is a rare genetic disorder. The disorder affects the bones of a child's head, hands and feet. [1] People with Apert Syndrome often live long lives if they get proper treatment. However, children with Apert Syndrome who have heart problems may have a shorter lifespan. [2]

Signs and Symptoms

In babies with Apert Syndrome, the bones of the head join too early. The brain keeps growing, which causes the shape of the baby's head and face to change.[3] Some symptoms that can be seen are:

Baby with Apert Syndrome.
  • head that is wide and tall
  • the top half of the face is flat or sunken in
  • eyes that stick out
  • nose that's shaped like a beak
  • cleft palate (a slit at the roof of the baby's mouth)
  • overcrowded teeth

People with Apert Syndrome also have fingers that are connected to each other on both of their hands. The number of fingers that are connected to each other depends on the person. Some people may also have toes that are connected. [1][3]

The symptoms of Apert Syndrome vary from person to person. Some people don't have many symptoms, while other people have severe symptoms. There is no way to predict how severe someone's symptoms will be. [3]

Other Health Problems

Problems with the head and face are the main symptoms of Apert Syndrome. However, people with Apert Syndrome also have other health problems. [1] Some common problems are:

  • problems eating
  • loud breathing
  • sweating a lot
  • trouble hearing
  • problems learning in school

There are also health problems that are more rare. [1] These include:

  • heart problems (10% of people with Apert Syndrome have heart problems) [4]
  • problems with the gut, which cause children to vomit
  • back that is curved
  • swollen kidney

People with Apert Syndrome should see different doctors to help with their symptoms (see Treatment).

Diagnosis

Doctors can diagnose a child with Apert Syndrome by looking at their symptoms. Sometimes genetic testing is needed to confirm that the child has Apert Syndrome (see Genetics). Usually doctors notice these symptoms soon after the baby is born. [1] In some cases, doctors can see that a baby has Apert Syndrome from an ultrasound. [5]

Prevalence

About 1 in every 65,000 babies are born with Apert Syndrome. [6] Apert Syndrome is found in both girls and boys. Apert Syndrome often happens randomly when a baby is growing. Less often, the disorder is passed down from one of the parents (see Genetics). [1] Older fathers have higher chances of having a baby with Apert Syndrome. [7]

If a parent has Apert Syndrome (shown in blue), there is a 50% chance that each of their children will also have the disorder. Notice that 2 out of the 4 children have the disorder (shown in blue).

Genetics

In all of our cells that make up our body, we have DNA. DNA is our genetic material that tells our body how to grow and how to function. Genes are segments of DNA. We have many different genes that all have a specific function in our body. Sometimes, if there is a change in a gene, it can cause a genetic disorder.

Apert Syndrome occurs when there is a change in a specific gene, called FGFR2. [8] The FGFR2 gene is important for a baby's bones to grow properly. Therefore, a change in the FGFR2 gene stops the baby's bones from growing properly and they will have Apert Syndrome.

People have two copies of each gene, one copy inherited from each parent. A genetic change in only one copy of the FGFR2 gene is enough to cause Apert Syndrome.[1]

Inheritance

Apert Syndrome often happens randomly, but sometimes a change in the FGFR2 gene is passed down from a parent to their children. There is a 50% chance that a parent with a change in the FGFR2 gene will pass on the changed copy to each of their children. That means there is a 50% chance that each of their children will have Apert Syndrome. [1]

Treatment

There is no cure for Apert Syndrome. However, different health experts can help treat the child's symptoms.

Face and Head Treatment

Surgery can be done after birth to fix problems with the baby's head. The surgery splits apart the bones of the head that joined too early. That way, the brain has more room to grow properly. [1] Another surgery can also be done to bring the middle part of the face forward. This surgery is usually done when the person is a young child or teenager. [9]

Hands and Feet Treatment

Surgery can be done to separate the fingers that are connected. This surgery happens when the child is between 3 months of age and 2 years old. A similar surgery can be done to separate connected toes. [10]

Dental Treatment

A child with Apert Syndrome should start to see a dentist when they are about 2 or 3 years old. The dentist will help make sure that the teeth are in a normal position and that they are not overcrowded. [11]

Other Treatments

People with Apert Syndrome may also need other treatments, depending on what their symptoms are. Some examples include help with eating problems, school support for learning problems, hearing aids, and visits to a heart doctor. [1]

Genetic Counselling

People with Apert Syndrome or their family members can talk to a genetic counsellor. A genetic counsellor gives families information about genetic disorders such as Apert Syndrome and provides support. They also explain who in the family can get genetic testing and what the results of the test mean.

Genetic Testing for Parents

Parents of a child with Apert Syndrome can get genetic testing. The test looks to see if one of the parents has a change in the FGFR2 gene (see Genetics). [1] Therefore, the test would show if the disorder was passed down by one of the parents, or if it happened randomly in the child.

Genetic Testing During a Pregnancy

If a person with Apert Syndrome is having a child, genetic testing can be done during the pregnancy. [1] This test would show whether the baby has Apert Syndrome or not. Genetic testing is optional and a very personal choice. Some couples may want to know if the child will have Apert Syndrome so that they can prepare. Other couples may choose to end the pregnancy. Genetic counsellors are there to support couples to make the best choice for themselves and their family.

Another option is to do genetic testing for Apert Syndrome before getting pregnant. This procedure is called in vitro fertilization (IVF). The sperm and egg are combined to form embryos. Genetic testing is then done on the embryos to see if the baby would have Apert Syndrome. Next, a healthy embryo is placed in the woman's uterus so that she will become pregnant. IVF is done by a fertility clinic, not by a genetic counsellor. However, the genetic counsellor can provide couples with more information about the procedure and talk about some of the pros and cons.

Support for Parents

Raising a child with Apert Syndrome can be hard. The disorder is rare and there isn't much information about it. Therefore, many parents feel alone when raising a child with Apert Syndrome. [12] Genetic counsellors can connect parents to groups in the community. Below are a few booklets that may be helpful for parents:

https://www.ccakids.org/assets/syndromebk_apert.pdf

https://www.childrenshospital.org/sites/default/files/media_migration/bf14a8bc-8903-4cc2-8874-3561c42384c9.pdf

References

  1. ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 Wenger, T. L., Hing, A. V., & Evans, K. N. (1993). Apert Syndrome. In M. P. Adam, D. B. Everman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. Bean, K. W. Gripp, & A. Amemiya (Eds.), GeneReviews®. University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK541728/
  2. ↑ David, D. J., Anderson, P., Flapper, W., Syme-Grant, J., Santoreneos, S., & Moore, M. (2016). Apert Syndrome: Outcomes From the Australian Craniofacial Unit’s Birth to Maturity Management Protocol. Journal of Craniofacial Surgery, 27(5), 1125–1134. https://doi.org/10.1097/SCS.0000000000002709
  3. ↑ 3.0 3.1 3.2 Vimal.G, I., Sumathy*, G., Sathyapriya, B., B, C., Gowshik.P, & Azeez.A, A. (2020). Apert Syndrome- A Review. European Journal of Molecular & Clinical Medicine, 7(10), 479–483.
  4. ↑ Cohen, M. M., & Kreiborg, S. (1993). Visceral anomalies in the Apert syndrome. American Journal of Medical Genetics, 45(6), 758–760. https://doi.org/10.1002/ajmg.1320450618
  5. ↑ David, A. L., Turnbull, C., Scott, R., Freeman, J., Bilardo, C. M., van Maarle, M., & Chitty, L. S. (2007). Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenatal Diagnosis, 27(7), 629–632. https://doi.org/10.1002/pd.1758
  6. ↑ Tolarova, M. M., Harris, J. A., Ordway, D. E., & Vargervik, K. (1997). Birth prevalence, mutation rate, sex ratio, parents’ age, and ethnicity in Apert syndrome. American Journal of Medical Genetics, 72(4), 394–398. https://doi.org/10.1002/(SICI)1096-8628(19971112)72:4<394::AID-AJMG4>3.0.CO;2-R
  7. ↑ Glaser, R. L., Broman, K. W., Schulman, R. L., Eskenazi, B., Wyrobek, A. J., & Jabs, E. W. (2003). The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. American Journal of Human Genetics, 73(4), 939–947. https://doi.org/10.1086/378419
  8. ↑ Wilkie, A. O., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., Hayward, R. D., David, D. J., Pulleyn, L. J., & Rutland, P. (1995). Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genetics, 9(2), 165–172. https://doi.org/10.1038/ng0295-165
  9. ↑ Tahiri, Y., & Taylor, J. (2014). An Update on Midface Advancement Using Le Fort II and III Distraction Osteogenesis. Seminars in Plastic Surgery, 28(4), 184–192. https://doi.org/10.1055/s-0034-1390171
  10. ↑ Zucker, R. M., Cleland, H. J., & Haswell, T. (1991). Syndactyly correction of the hand in Apert syndrome. Clinics in Plastic Surgery, 18(2), 357–364.
  11. ↑ López-Estudillo, A.-S., Rosales-Bérber, M.-Á., Ruiz-Rodríguez, S., Pozos-Guillén, A., Noyola-Frías, Á., & Garrocho-Rangel, A. (2017). Dental approach for Apert syndrome in children: A systematic review. Medicina Oral, Patología Oral y Cirugía Bucal, 22(6), e660–e668. https://doi.org/10.4317/medoral.21628
  12. ↑ Saydam, S. Z., Çüçülayef, D., Doğan, T. N., Crerand, C. E., & Özek, M. (2021). Social Experiences of Turkish Parents Raising a Child With Apert Syndrome: A Qualitative Study. The Cleft Palate-Craniofacial Journal: Official Publication of the American Cleft Palate-Craniofacial Association, 58(3), 354–361. https://doi.org/10.1177/1055665620944761
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