
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 Third Edition [NEW]
September 2024
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.
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.
- GI issues in 22q11.2DS
- The Digestive System
- Feeding Difficulties
- Swallowing and Dysphagia
- Constipation
- Gastroesophageal Reflux Disease (GERD)
- Esophageal Dysmotility
- Gastroparesis
- Cholelithiasis (Gallstones)
- Nausea and Vomiting
- Autoimmune Issues in the GI System
- Inguinal Hernias
- Nonalcoholic Fatty Liver Disease
- Intro to Speech
- Consonants and Vowels in English
- Speech Disorders in Individuals with 22q11.2 Deletion Syndrome – an Overview
- Speech Disorders in Individuals with 22q11.2 Duplication Syndrome – an Overview
- Voice Disorders
- Speech Sound Disorders
- Motor speech disorders
- How Parents and Professionals Can Help
More info on speech and language:
- Speech and Language Stimulation Activities
-
Cynthia B. Solot, MA, CCC, Deborah Levin, MA, CCC, Sarah Vogel, MA, CCC
-
-
Cynthia B. Solot, Debbie Sell, Anne Mayne, Adriane L. Baylis, Christina Persson, Oksana Jackson and Donna M. McDonald-McGinn
Special thanks to Joanne Loo, Programmatic and Educational Tool Developer; Dr. David Ingram, Pediatric Sleep Physician; and Dr. Jill Arganbright, Pediatric Otolaryngologist (Ear-Nose-Throat specialist).
- Introduction to Sleep
- Obstructive Sleep Apnea
- Insomnia & Delayed Sleep Phase Disorder (DSPD)
- Restless Legs Syndrome (RLS) & Periodic Limb Movement Disorder (PLMD)
- Parasomnias (focusing on sleep terrors, confusional arousals, and sleep walking)
Donate Today
At the International 22q11.2 Foundation we help families that need important resources and information to meet the needs of loved ones with 22q.