Patient and Family Education

22q11.2-Related Disorders

22q11.2 (called “22q”) -related disorders are conditions caused by differences Overview of 22q11.2- in part of a child’s . Chromosomes contain , which tell our related disorders, cells how to work and what to make. There are 23 pairs of including features, chromosomes in each of the body. If there are problems with certain causes, diagnosis and chromosomes, it can affect how a child’s body grows and functions and how treatment they look.

What are the 22q11.2-related disorders? There are two disorders related to number 22: • 22q syndrome is caused by a small piece of the chromosome that is missing. The missing piece is at a specific spot on the chromosome (called region 22q11.2). For 90% of children with 22q deletion, this is a new genetic change (not passed down from a parent). • 22q duplication syndrome is caused by an extra copy of a small piece of in the same region. These conditions are linked to many health issues. They can affect your child’s growth, feeding, breathing, speaking, hearing, learning and mental health.

What are the features of 22q11.2-related disorders? The features of 22q11.2-related disorders differ widely, even among members of the same family. The condition can affect how your child’s eyelids, nose and ears look. These can include: • Eyelids that look “hooded” or heavy • A nose that is tube-shaped • Ears that are folded over more than usual at the edges • A face that looks long, with flat cheeks • A narrow mouth

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22q11.2-Related Disorders

The disorders may cause problems with your child’s: • Roof of the mouth (palate), including cleft palate • Ears, nose or throat • Heart • Ability to fight () • Nervous system • Kidneys • Skeleton • Hormones These differences may affect your child’s growth, feeding, breathing, speaking, hearing, learning or mental health. Children with 22q duplication may not have differences in their facial features. They are also less likely to have other problems with their other body systems, although these differences are possible. They are more likely to have behavior and mental health problems.

Are there other names for 22q disorders? All of these names have been replaced with “22q11.2-related disorders”: • Velocardiofacial syndrome (VCFS) • DiGeorge syndrome • Shprintzen syndrome • Conotruncal anomaly unusual face syndrome • Cayler cardiofacial syndrome • Catch 22 syndrome

How is 22q11.2 deletion syndrome diagnosed?

Diagnosis after birth Your doctor will check your child and look for the differences that are linked with 22q11.2-related disorders. Since the features of the conditions differ from child to child, a careful exam is important. Your doctor may recommend genetic tests to confirm their diagnosis. Doctors may order other tests or procedures to learn more about your child’s exact condition. For example, an ultrasound picture of their heart (echocardiogram) can show if they have any heart problems.

How will I know if my child should have ? We will talk with you about the benefits and risks of genetic testing and explain test results. We can also give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment. Our genetic counselors also advise people about their chance of having another child with a similar condition. A person with the condition has a 50% chance in each pregnancy of passing it on to their child.

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22q11.2-Related Disorders

How are 22q-related disorders treated? To Learn More The effects of these conditions can vary greatly from child to child. We will • Craniofacial create a care plan specific to your child's needs. Because of the high rates of 206-987-2208 problems in the following areas, your child may need to see providers with • Ask your child’s special training in: healthcare provider • Audiology (hearing) • www.seattlechildrens.org /22q • Craniofacial pediatrics • • Medical • Neurodevelopmental (child development) • Nutrition Free Interpreter • Otolaryngology (ears, nose and throat) Services • and Behavioral Medicine • In the hospital, ask • Social work your child’s nurse. • Speech and language pathology • From outside the hospital, call the Your child may also need to see other specialists at Seattle Children’s. This toll-free Family will depend on their medical problems and test results. For more information, Interpreting Line visit www.seattlechildrens.org/22q. 1-866-583-1527. Tell the interpreter the name or extension you need.

Seattle Children’s offers interpreter services for Deaf, hard of hearing or non-English speaking patients, family members and legal representatives free of charge. Seattle Children’s will make this information available in alternate formats upon request. Call the Family Resource Center at 206-987-2201. 9/18 This handout has been reviewed by clinical staff at Seattle Children’s. However, your child’s needs are unique. Before you act PE2917 or rely upon this information, please talk with your child’s healthcare provider. © 2018 Seattle Children’s, Seattle, Washington. All rights reserved.

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