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Information about Clinical Features Associated with 22q Differences

There are many possible clinical features for 22q11.2 deletion and duplication syndromes, and the medical terms can be overwhelming.  The International 22q11.2 Foundation is here to help.  The following are information sheets that explain medical conditions in ways that families can understand.  These sheets are generated by individuals who are highly involved in 22q-related education and communication, and the content is carefully reviewed by 22q experts.  We will continue to add more sheets as they become available.

Disclaimer: These information sheets are provided for educational purposes only. They are not intended to be taken as medical advice. If you have questions or concerns, please discuss them with your doctor or healthcare provider.

22q Glossary Second Edition [NEW!]

September 2023

This glossary has been created to help families understand terms they may encounter for 22q differences. The glossary is an ongoing project, and we will add more terms in future editions. Many thanks to all the 22q Experts who contributed to this Glossary.

To help both families and dentists understand teeth conditions in individuals with 22q differences, we have now published the Dental Series, which includes two information sheets.  Special thanks to Joanne Loo, Programmatic and Educational Tool Developer; Prof. Gunilla Klingberg, Pediatric Dentist and Odontologist; Dr. Patricia Beals, Craniofacial Orthodontist; and Carol Cavana, Parent.

Let’s Talk 22q Teeth – Info for Families

Dental Health in Children with 22q – Info for Dentists

The Heart Series is the first collection in our Health Conditions Explained Series. It provides information on the normal heart before focussing on some of the most common congenital heart defects seen in individuals with 22q differences.  Special thanks to Joanne Loo, Programmatic and Educational Tool Developer; Dr. Carolina Putotto, Pediatric Cardiologist; and Dr. Bruno Marino, Pediatric Cardiologist.

Interrupted Aortic Arch (IAA)

Tetralogy of Fallot (ToF)

The Heart and Normal Blood Flow

Truncus Arteriosus (TA)

Ventricular Septal Defect (VSD)

Mental health is often an area of significant concern for parents of children and adults with 22q11.2 deletion and duplication syndromes.  Psychiatric conditions are treatable illnesses, and individuals can recover.  The Mental Health Series provides background information about specific conditions and some tips on possible management.  Special thanks to Joanne Loo, Programmatic and Educational Tool Developer; Lisa Palmer, Social Worker; Maude Schneider, Psychologist and Psychotherapist; and Anne S. Bassett, Psychiatrist and Medical Director, The International 22q11.2 Foundation.

Our newest series focusses on 22q-related gastrointestinal issues such as feeding difficulties, dysphagia, and constipation.  More topics will be posted as they become available.

Special thanks to Dr. Maria Mascarenhas, Pediatric Gastroenterologist and Nutrition Pediatrician; Joanne Loo, Programmatic and Educational Tool Developer; and Dr. David W. Low, Plastic Surgeon and Medical Illustrator.

The Digestive System

Feeding Difficulties

Swallowing and Dysphagia

Constipation

This series explains 22q-related palate differences such as submucous cleft palate and velopharyngeal dysfunction. Special thanks to Cynthia Solot, Speech-Language Pathologist; Prof. Richard Kirschner, Pediatric Plastic Surgeon; Joanne Loo, Programmatic and Educational Tool Developer; and Dr. David W. Low, Plastic Surgeon and Medical Illustrator.

The Velopharynx
Cleft Palate & Submucous Cleft Palate
Velopharyngeal Dysfunction – Introduction and Causes
Velopharyngeal Dysfunction – Diagnosis
Velopharyngeal Dysfunction – Surgery
Velopharyngeal Dysfunction – Speech Issues

Speech and Language Series

Speech and Language Stimulation Activities
Cynthia B. Solot, MA, CCC, Deborah Levin, MA, CCC, Sarah Vogel, MA, CCC
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management (2019)
Cynthia B. Solot, Debbie Sell, Anne Mayne, Adriane L. Baylis, Christina Persson, Oksana Jackson and Donna M. McDonald-McGinn

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At the International 22q11.2 Foundation we help families that need important resources and information to meet the needs of loved ones with 22q.