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Clinical and Metabolic Genetics
Clinical and Metabolic Genetics

About Our Clinic

What is 22q11 Deletion Syndrome?

22q11 deletion syndrome or “22q11 DS”, affects as many as 1 in 2,000 to 1 in 4,000 children world wide.  Other names you may come across for this syndrome are velocardiofacial syndrome (or VCFS), Sphrintzen syndrome, and Di-George Syndrome.  People with 22q11 are missing a small piece from chromosome 22.  This may lead to different health problems such as:

  • A heart defect
  • A cleft palate and/or nasal speech
  • Trouble saying words
  • Language and learning disabilities
  • Feeding problems
  • Problems with the immune system
  • Hormone imbalances
  • Mental illness

For more detailed information about this syndrome, please click here

What is the 22q11 DS Clinic?

  • Children with 22q11 DS need ongoing support, medical care and information.  The 22q11 DS clinic aims to meet the needs of children with 22q11 DS and their families
  • Our clinic brings together a group of many different kinds of health care workers to work together to care for your child.

Who can visit the 22q11 DS clinic?

  • Any baby, child or teenager who has a confirmed diagnosis of 22q11 DS can attend the 22q11 DS clinic.  Children with a suspected diagnosis of 22q11 should first go to their local genetics clinic for assessment and testing.

Who are the members of the 22q11 Deletion Syndrome Team?

An appointment at the 22q11 DS clinic may include a visit with health-care workers from one or more of the following teams:

  • The Clinical Genetics team helps families understand more about 22q11 DS, and how it may be inherited.  They also coordinate the 22q11 DS clinic.
  • The Cardiology Team has special training in looking at and treating heart defects and related cardiovascular problems.  Cardiology follows children with 22q11 DS who have congenital (present at birth) heart defects.
  • The Speech and Language Pathology team is skilled at helping children with speech problems, and can help you find speech and language services in your community.  Special testing is also available for children with 22q11 DS who have nasal speech.
  • The Endocrinology team sees children with 22q11 DS who have growth problems, or hormonal imbalances such as thyroid disease or low calcium.
  • The Child Development team works with you to find out your child’s learning strengths and weaknesses, and to create a plan to help your child develop his or her potential.  The team includes a developmental paediatrician, a psychologist, and a psychometrist.
  • Psychiatry will assess and treat children who have psychiatric illnesses or emotion or behavioural problems.
  • The Social Work team helps families to connect with community resources and services.  Social work can also provide short-term family counselling or therapy for many issues including parenting strategies, behaviour management and family stress.
  • The Immunology team cares for children who have problems with their immune system (the immune system keeps you healthy).  Immunology can also provide advice to parents about giving vaccines to children with 22q11 DS.

Parent-to-Parent Link Program

  • To create a network of support for our families, we help parents (wherever possible) connect with other families in similar situations.  To sign up for the Parent-to-Parent Link program, just complete this form, and you will receive a directory listing all other families who signed up.
  • We also publish a clinic newsletter for our families with updates, information, and educational articles.

Referrals to other services

  • When needed, the 22q11 DS team will refer your child to other health-care workers and departments, such as Neurology, Nephrology, Audiology, the Cleft Palate team and Community Services.

How often will my child be seen at the clinic?

  • Your child’s needs will be decided at each visit.  Follow-up can range from every few months, to once every year or two.  In between you child’s visits to the clinic, we will communicate regularly with your child’s doctor.

How can my child be referred to the clinic?

  • Ask your family doctor, paediatrician or specialist to make a referral to:

22q11 Deletion Syndrome Clinic
Division of Clinical and Metabolic Genetics
The Hospital for Sick Children
555 University Avenue
TorontoON   M5G 1X8
Tel: 416-813-6390
Fax: 416-813-5345

Who do we contact for more information?

  • If you have any questions about the clinic, or how to make a referral, please contact the clinic coordinator at 416-813-6389