Kabuki syndrome

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What is the life span of an individual with Kabuki syndrome?

There is not a lot of data about the life span of people with Kabuki syndrome. It is thought that if major symptoms, like heart problems or kidney problems, are treated then affected people can have a normal life span. They can live well into adulthood. Talk to a medical geneticist to learn more about living with Kabuki syndrome. To find a genetics clinic near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

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How do I stay up to date with news about Kabuki syndrome?

Is there a Kabuki syndrome test I can take while pregnant?

If my child didn't get Kabuki syndrome from one of their parents, why is it called a genetic disorder?

Did anything I do during my pregnancy cause Kabuki syndrome in my child?

Does Kabuki syndrome affect females or males more often?

Does my child with Kabuki syndrome need to go to a special day care or school?

If my child has Kabuki syndrome will it always be recognized at birth?

Is Kabuki syndrome always recognized at birth?

How do I stay up to date with news about Kabuki syndrome?

The Kabuki syndrome support foundation has a newsletter that keeps families up to date on new research, news, or events related to Kabuki syndrome. Contact them at http://kabukisyndrome.com/contact.

Is there a Kabuki syndrome test I can take while pregnant?

If you or a family member have had a previous child with Kabuki syndrome (KS), testing can be done in a future pregnancy. This test is done by taking a small sample of the baby’s genetic material. This can be done with a procedure called an amniocentesis. In an amniocentesis, a needle is inserted through the mother’s stomach into the sac around the baby. A small sample of fluid is taken. The baby’s genetic material is floating in this fluid. Genetic testing can be done on this sample. This procedure has a small risk of miscarriage. It is a less than 1% risk. Another procedure called a chorionic villus sampling (CVS) can also be done. In CVS, a needle is inserted through the vagina and cervix to take a small piece of the baby’s placenta. Genetic testing can be done on the piece of placenta. This procedure also has a small risk of miscarriage. It is also an option to monitor the baby through the ultrasound. However, an ultrasound cannot be used to diagnose a baby with Kabuki syndrome. Many of the symptoms of KS cannot be seen on ultrasound. A genetic counselor can give you more information on prenatal testing options. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

If my child didn't get Kabuki syndrome from one of their parents, why is it called a genetic disorder?

This is very common question about a lot of genetic disorders. Kabuki 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 inherited. Sometimes mutations, or gene changes, are passed through families. Mutations can also happen at random. Most people with Kabuki syndrome do not have an affected parent. However, it is possible for an affected person to pass Kabuki syndrome on to their children if they have any. Talk to a genetic counselor to learn more about the genetics of KS. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

Did anything I do during my pregnancy cause Kabuki syndrome in my child?

You did not do anything to cause Kabuki syndrome in your child. You also could not have done anything to prevent this from happening in your child. When an egg and a sperm first 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 happen at this time that cause some information to get lost in the process. Therefore, this mistake has been present from the very start of your baby's life, and nothing you did during the pregnancy could've changed this mistake. Talk to a genetic counselor to learn more about the genetics of KS. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

Does Kabuki syndrome affect females or males more often?

Kabuki syndrome affects males and females equally. Because it happens by chance or randomly during a pregnancy, it happens in both males and females. Talk to a genetic counselor to learn more about the genetics of KS. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

Does my child with Kabuki syndrome need to go to a special day care or school?

Children can be enrolled in different kinds of therapy to help them reach their full potential.

These include physical, occupational, and speech therapy. However, they can be enrolled in the same day cares as other children without Kabuki syndrome (KS). It may be important for their teachers to be aware of their diagnosis. This can allow your child to continue to receive therapies and extra help as needed.

Once children with KS reach school age, parents may choose for them to go to a regular school or a special education school. 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 education. Your doctor may need to write a letter to your school explaining your child’s needs. A medical geneticist is the type of doctor that usually diagnoses KS. To find a genetics clinic near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

If my child has Kabuki syndrome will it always be recognized at birth?

No, the symptoms of Kabuki syndrome are not always noticed right away at birth. Sometimes it is noticed that something is not right at birth, but sometimes it is not noticed until later in life. It may be noticed because children aren't developing as fast as other children in their day care or school. At this time, they can have an exam for developmental delay and other symptoms might be noticed. The symptoms of KS can overlap with the symptoms of other disorders. It may take some time before a doctor determines the right diagnosis. Sometimes they will test for other, more common, disorders before they consider KS. A medical geneticist is the kind of doctor that usually diagnoses KS. To find a genetics clinic near you, visit the Genetic Services Search Engine on the American College of Medical Genetics website.

Is Kabuki syndrome always recognized at birth?

Kabuki syndrome was first seen in a person in Japan. This is where the genetic disorder was studied originally. Much of the early research was on Japanese patients. However, since then it has been seen in all types of ethnicities and backgrounds. It is thought to affect everyone at an equal rate. However, it is still very rare and research is continuing. Talk to a genetic counselor to learn more about Kabuki syndrome. To find a genetic counselor near you, visit the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

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