updated 2018
The most common ‘rare’ syndrome you’ve never heard of.” ~ Michelle Breedlove Sells
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Moving to a common name, geneticists, parents and many professionals are now calling VCFS/DiGeorge/Sprintzen Syndrome….22q11.2 deletion syndrome, due to the fact that all found syndromes have the commonality of missing a piece genes on the 22 chromosome.
22q11.2 Deletion syndrome or 22q (also referred to as Velo-cardiofacial syndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome. This tiny missing portion of chromosome 22 can affect every system in the human body. 22q can be the cause of nearly 200 mild to serious health and developmental issues in children. It is often times not diagnosed [1] or recognized as the cause of a child’s health and/or developmental issues for years. It is believed to be the second most common genetic disorder behind Down’s Syndrome [2], yet most have never heard of it! Because each person diagnosed with 22q presents a unique set of the possible 180+ symptoms, it is difficult for even the best doctors to recognize. Many times, this scattered collection of issues impedes the proper diagnosis for years. This knowledge has yet to catch up to the general public or health care professionals. This leads many to believe the 1 in 2000 to 4000 estimated number of children born each year with 22q, is likely a gross underestimation of the actual numbers.
You may be surprised to learn that the issues most commonly linked to 22q are among some of the most commonly recognized health issues for newborns and children worldwide. This list includes but is not limited to the following: growth delays, feeding problems, congenital heart disease, gastrointestinal difficulties, serious breathing concerns, cleft and craniofacial issues, calcium deficiencies, immune deficiencies, kidney problems, and skeletal anomalies. This list also includes the possibility of speech, developmental and cognitive delays, as well as ADHD [3], Autism [4] and many anxiety-type disorders. Early diagnosis of 22q deletion syndrome is the key to properly addressing all 180 issues which can be associated with the disorder.
What is 22q11.2 Deletion?
22q11.2 deletion syndrome is a chromosomal abnormality that can cause a wide range of health and developmental issues, including heart defects, breathing issues, problems with the gastrointestinal tract, immune and endocrine systems, differences in the palate, slow growth, autism/developmental delays or learning disabilities in some individuals.
Children with this condition may have many or only a few of the symptoms, with varying severity. Physicians with expertise in this condition can quickly recognize the diagnosis in some patients and take steps to improve their quality of life, but in other children and adults, it is not as straightforward.
How Common is the 22q11.2 Deletion?
The deletion occurs in an estimated 1 in 2,000-4,000 live births, although this is possibly an underestimate of the prevalence of this deletion, making it almost as common as Down syndrome. In addition, it is the most frequent cause of syndromic palatal defects and it is found in 1 of 68 children born with a heart defect. Despite this prevalence, many physicians are still not familiar with the diagnosis or its extreme variability. Because of this, a family may search for years for an explanation for the child’s problems, as well as for meaningful help. Sometimes patients are in their late teens or even adulthood before the diagnosis is made.
What tests are used to identify the deletion?
Today there are many tests that can identify the deletion and they are most readily performed as blood tests. They include: FISH (fluorescence in situ hybridization), comparative genomic hybridization (CGH), whole genome or SNP array, and multiplex ligation-probe amplification (MLPA). In general, a regular chromosome study will only identify this very small deletion about 25% of the time so one of the above more specialized tests would need to be requested in order to find the deletion.
Is the 22q11.2 deletion hereditary?
Most times the deletion is not hereditary or “running in the family” but once it is present the person with the deletion has a 50% chance of passing it on to his or her child. It is important to know that the eggs and sperm have no memory so every pregnancy has the same 50% chance of having a child with the deletion even if there is an affected child already in the family. In addition, as the findings in people with the 22q11.2 deletion are variable it is impossible to predict how mildly or significantly affected a child will be.
When neither parent has the deletion it is said that it “just happened” in their child – that is a chance occurrence. It is nothing that the parents did or did not do that caused it to occur. It occurs on a very cellular level due to the inherent structure of the chromosome and it is nothing that anyone has any control over. This is very important as many families feel a sense of guilt over the fact that their child has a “genetic condition” but this is not anyone’s fault.
More than 180 symptoms of 22q?
Because each person diagnosed with 22q presents a unique set of the possible 180+ symptoms, it is difficult for even the best doctors to recognize. Click here for a complete list of symptoms [5].
How should individuals with the 22q11.2 deletion be followed medically?
Ideally, children with the 22q11.2 deletion receive coordinated care in centers comprised of multidisciplinary teams of clinicians often drawn from more than 20 specialties. Centers address each child’s individual health problems, as well as issues such as speech or learning delays in order to help these children and their families lead the best life possible. Upon initial diagnosis the standard assessment and work up for all ages generally includes:
- Cardiology
- Endocrinology
- Immunology
- Speech/Language/Developmental Assessments
As well as:
- A Renal Ultrasound (to check the kidneys)
- X-rays of the neck (in children old enough to cooperate and where the bones are well ossified – so 3 to 4 years of age)
- Deletion studies in both parents when available
Thereafter, the work-up is individualized depending on the symptoms but may include any or all of the following:
- Plastic Surgery/ENT/Audiology
- Gastroenterology/Feeding Team
- Hematology
- Urology/Nephrology
- Orthopaedics
- Ophthalmology
- General Surgery
- Dentistry
- Rheumatology
- Neurology/Neurosurgery
- Psychiatry
[6]
22q Family Foundation [7] Mission:
DEDICATED TO RAISING AWARENESS FOR 22Q11.2 DELETION SYNDROME WHILE CONNECTING, SUPPORTING AND OFFERING ACCURATE INFORMATION TO FAMILIES AFFECTED BY THE DISORDER.
Email: [email protected] [8]
FB: https://www.facebook.com/22qFamily/ [9]
Instagram: 22qfamilyfoundation
Related: List and Explanation of Disabilities for Disability Awareness Month [10]
Helpful Articles
- Handling Your Child’s Diagnosis: Six Things Parents Should Do For Themselves [1]
- 8 Ways to be a Great Advocate For Your Family Member With Special Needs [11]
- Coping with the Life You Never Imagined [12]
- How Do You Talk to Your Child About Their Diagnosis? [13]
- Developing Your Own Network [14]
- Sex Education: Teaching the most vulnerable [15]
- The Importance of Teaching Children Body Safety [16]
- Puberty and Hygiene: How to Support Our Children [17]
- A Complete Guide on Dental Care for Children with Special Needs [18]
- Surgery Survival [19]
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