The Children’s National Hospital 22q Multidisciplinary Clinic provides specialized treatment services for children and adolescents with genetic differences caused by a missing or extra piece of chromosome 22.
Our program’s multidisciplinary approach means a variety of experts familiar with 22q are able to help your child through diagnosis and treatment with the best care possible. Families who have experienced 22q also share their advice and expertise with our teams when able.
22q11.2 deletion syndrome (22q11.2 DS), also known as DiGeorge Syndrome or Velocardiofacial Syndrome, is the most common microdeletion syndrome and is many times underdiagnosed. This syndrome has a variable phenotype and affects multiple systems, making early recognition and multidisciplinary management imperative. This condition is characterized by congenital heart disease (especially conotruncal defects), immunodeficiency, hypoparathyroidism, palatal, gastrointestinal, skeletal and renal abnormalities. Characteristic facial features, developmental and speech delay, and an increased risk for psychiatric illness are also observed.
22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.
22q Clinic Services
Our team involves cardiology, ENT, audiology, immunology, psychology, endocrinology, plastic surgery and genetics specialists that have experience with 22q syndromes. We discuss and evaluate the information of our patients together in order to improve patient care and decrease the burden of several appointments on different days. All the providers offer in-person visits as well as telehealth evaluations.
For more information or to engage with our services, contact us at 202-476-2187 or email Christine Lynn Maccia.