(Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)
|Parathyroid glands are located on the thyroid gland in the neck.|
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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
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: http://www.ebscohost.com/dynamed. Updated March 28, 2010. Accessed August 7, 2013.
22q11.2 deletion syndrome. Stanford Children's Health website. Available at: http://www.stanfordchildrens.org/en/topic/default?id=22q112-deletion-syndrome-90-P01682. 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.
- Reviewer: Michael Woods, MD
- Review Date: 06/2015 -
- Update Date: 05/11/2013 -