Sotos syndrome

Children with Sotos syndrome are expected to have a normal life span. It is important that children see the right doctors to make sure any necessary surgeries or treatments are done to avoid complications later in life.

To learn more about the specialists that an individual with Sotos syndrome may need contact a genetic counselor or a medical geneticist.

Children with Sotos syndrome are usually larger at birth and grow faster than other children during infancy and childhood. However, usually by teenage years and adulthood height becomes closer to normal height for that age group. The typical growth patterns for children with Sotos syndrome can be found at: http://www.childgrowthfoundation.org/Default.aspx?page=Conditionssotos.

Early in childhood, children with Sotos syndrome can be enrolled in a variety of therapies including physical, occupational, and speech therapy to help them reach their full potential. These children can be enrolled in the same day cares as other children without Sotos syndrome. It may be important for their teachers to be aware of their specific diagnosis so they can continue to receive therapies and extra help.

Once children with Sotos syndrome reach school age, parents may choose for them to go to a regular school or a special education school, if available. In regular schools children can have an individualized education plan (IEP) in order to help teachers understand their needs. They will continue to receive support or extra services for appropriate education. Some patients with Sotos syndrome develop behavior problems when they reach school age. Having an IEP in place can also help with behavior problems, as these children may be able to receive counseling and support to prevent these behaviors from interfering with learning and social interactions.

You can stay up to date through the Sotos syndrome support association. This organization has a newsletter that can be sent to you to keep families up to date on new research, news, or events related to Sotos syndrome.

If you have had a previous child with Sotos syndrome or a family member has, and the genetic cause is known, testing can be done in a future pregnancy. Testing options include chorionic villus sampling (CVS) and amniocentesis. CVS involves removing a piece of the placenta for genetic testing. CVS can be performed around 10-12 weeks of gestation. With CVS there is a small risk for confined placental mosaicism. This means that a genetic change could be present in the placenta that is not present in the baby or that a genetic change could be present in the baby that is not present in the placenta. The risk for confined placental mosaicism is approximately 1%. Amniocentesis involves taking a sample of amniotic fluid found for genetic testing. This testing can be performed starting at 15 weeks of gestation. Because both CVS and amniocentesis are invasive, there is a small risk for miscarriage

It is also an option to monitor the baby through the ultrasound. However, symptoms may be different in each child and therefore there may be different findings or ultrasound. There may also be no signs on ultrasound.

To learn more about prenatal genetic testing options and recurrence risk in your family speak to a genetic counselor.

A bone age is a way to tell, through x-rays of the hand and wrist joints, the maturity of someone’s bones. The x-rays look at different parts of the bones that join together at different points in a child’s growth. In an individual with Sotos syndrome, the bones grow faster and join together faster meaning they are advanced for their numerical age.

Sotos syndrome is called a genetic disorder because we know it is caused by a change or mistake in the body’s genetic instructions. However, just because it has a genetic cause that does not mean it is hereditary, or inherited from a parent.

If a diagnosis of Sotos syndrome is suspected but genetic testing does not find a change in NSD1 this does not mean that someone does not have Sotos syndrome. It means that genetic testing did not find a genetic cause; however genetic testing is not perfect. In the future we might learn more about Sotos syndrome and find other genes than NSD1 that cause this condition. If the three main symptoms are present (characteristic facial features, overgrowth, and learning disabilities) doctors should still treat and manage the child like Sotos syndrome. Individuals should also be evaluated by a geneticist to determine if the person could have a condition that is similar to Sotos syndrome (ex. Weaver syndrome or Beckwith-Wiedemann syndrome).

Speak to a genetic counselor or a medical geneticist if you have concerns about Sotos syndrome or other overgrowth syndrome.

There is nothing that you do to cause or prevent Sotos syndrome from happening. When an egg and a sperm meet to form a baby, there is genetic information from the mother and from the father that combine together. This has to happen in a very specific way and at the exact right time. Sometimes mistakes in the genetic information happen in this process. This change or mistake in the genetic information has been present from the very start of a baby’s life.