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22q Clinic

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What is the Seattle Children’s 22q Clinic?

The Seattle Children’s 22q Clinic brings together many types of healthcare professionals to care for children who are missing a small piece of 22q11.2, a region on chromosome 22. Children who are missing a piece from this region have 22q11.2 deletion syndrome. Sometimes other names are used, like velocardiofacial syndrome, Shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome and conotruncal anomaly unusual face syndrome.

More than 180 health concerns may occur in children who have the most common type of 22q11.2 deletion. For example, they may have problems with their heart, kidneys, skeleton, immune system, ears, nose or throat. They may also have problems with feeding, breathing, speaking, hearing or learning. These problems may occur in different combinations. Not every child with the most common type of 22q11.2 deletion has all of these problems. Most have only some of these problems.

It’s important for children who have a 22q11.2 deletion to get the types of care that match their needs. Our 22q Clinic is designed to provide this kind of care.

What’s special about the 22q Clinic at Seattle Children’s?

When your child comes to the 22q Clinic, a core group of clinic team members assesses your child. They create a special plan and involve other team members based on your child’s specific needs. Your team may include professionals from our Craniofacial Center and other areas of healthcare such as Audiology, Cardiology, Endocrinology, Gastroenterology, Genetic Counseling, Immunology, Medical Genetics, Neurology, Neurodevelopmental, Neuropsychology, Otolaryngology, Psychiatry and Psychology, Sleep Medicine, Speech and Language Pathology and Social Work.

The members of your team work closely to coordinate your child’s care whenever possible. Our goals are to diagnose and treat each problem that affects your child and to understand the overall picture of your child’s health and manage their care. We also work to connect your family with helpful resources.

Who needs the 22q Clinic?

Any child with a diagnosis of 22q11.2 deletion syndrome might benefit from the Seattle Children’s 22q Clinic. We treat children with a range of healthcare issues related to this condition. We also consult with families who have had prenatal testing and know their child has a 22q11.2 deletion before birth.

A doctor, such as your child’s regular pediatrician, can refer you to the 22q Clinic. Also, you can call us to find out about making an appointment. Call the Craniofacial Center at 206-987-2208.

Check out the Useful Links from our Craniofacial Center for resources that may be helpful for children with 22q11.2 deletion syndrome and their families.

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