(Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)
|Thyroid and Parathyroid Glands|
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- Elongated face
- Almond-shaped eyes
- 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
- Increased incidence of psychiatric disorders
- Occasional abnormalities include structural brain defects, scoliosis , umbilical or inguinal hernias , kidney abnormalities, anogenital abnormalities, eye abnormalities, and thyroid problems
- Blood tests—to look for immune problems and rule out other conditions
- Chest x-ray —to look for thymus
- Echocardiography—to examine the heart
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/
DiGeorge syndrome. American Heart Association website. Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/DiGeorge-Syndrome%5FUCM%5F309017%5FArticle.jsp . Accessed December 12, 2012.
DiGeorge syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated March 28, 2010. Accessed December 12, 2012.
DiGeorge syndrome. Lucile Packard Children's Hospital at Stanford website. Available at: http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/diabetes/digeorge.html . Accessed December 12, 2012.
Jones KL. Smith’s Recognizable Patterns of Human Malformations . 6th ed. Philadelphia PA: Elsevier Saunders; 2006.
Kleigman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 18th ed. Philadelphia PA: Saunders; 2007.
- Reviewer: Michael Woods, MD
- Review Date: 12/2012 -
- Update Date: 12/11/2012 -