(Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)
|Thyroid and Parathyroid Glands|
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- Elongated face
- Hooded eyelid
- Small eyes
- Small jaw
- Wide nose
- Small ears
- Small head
- Cleft palate
- Weak muscles
- Short height
- Tapered and hyperextensible fingers
- Learning difficulties
- Immune deficiency leading to increased infections
- Heart defects
- Growth and developmental delays
- Increased incidence of psychiatric disorders
- Hypoparathyroidism—low levels of parathyroid hormone
- Occasional abnormalities include structural brain defects, scoliosis, umbilical or inguinal hernias, kidney abnormalities, anogenital abnormalities, eye abnormalities, and thyroid problems
- Chest x-ray
Immune System Support
Heart Defect Repairs
Cleft Palate Repair
- Speech therapy—to help with feeding problems and speech development
- Occupational therapy—to help with everyday skills an personal care
- Physical therapy—to address physical challenges
- Developmental programs—to help your child reach appropriate developmental milestones
- Psychiatry—to address psychological challenges that may arise. Some may not develop until later in life.
Immune Deficiency Foundation http://www.primaryimmune.org
National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov
Canadian Association of Genetic Counsellors http://www.cagc-accg.ca
Health Canada http://www.hc-sc.gc.ca
22q11.2 deletion syndrome. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated March 28, 2010. Accessed August 7, 2013.
DiGeorge syndrome. American Heart Association website. Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/DiGeorge-Syndrome%5FUCM%5F309017%5FArticle.jsp. Updated April 26, 2011. Accessed August 7, 2013.
DiGeorge syndrome. Lucile Packard Children's Hospital at Stanford website. Available at: http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/diabetes/digeorge.html. Accessed August 7, 2013.
- Reviewer: Michael Woods, MD
- Review Date: 08/2013 -
- Update Date: 05/11/2013 -
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
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