22q11.2 Deletion Syndrome: The most common genetic condition no one's talking about.
22q11.2 Deletion syndrome or 22qDS (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) affects multiple systems 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. 22qDS can be the cause of nearly 200 mild to serious health and developmental challenges in children, with varying severity. It is oftentimes not diagnosed or recognized for years as the cause of these differences because each person diagnosed with 22qDS presents a unique set of the possible symptoms. 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 22qDS, is likely a gross underestimation of the actual numbers.
You may be surprised to learn that the issues most commonly linked to 22qDS are among some of the most commonly recognized health issues for newborns and children worldwide. The list of physical anomalies 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. The list of behavioral differences also includes the possibility of speech, developmental and cognitive delays, as well as ADHD, Autism and many anxiety-type disorders. Early diagnosis of 22q deletion syndrome is the key to properly addressing all of the nearly 200 features that can be associated with the syndrome.
History of 22q - Other Names
Beginning in the 1960’s researchers and doctors from around the world were noticing trends with certain groups of symptoms among their patients. After discovering that many of their patients all had similar features, they gave these patients a diagnosis. Dr. Angelo DiGeorge, a pediatric endocrinologist noticed many of his patients having heart defects, low calcium levels, compromised immune systems, oftentimes missing a thymus gland, and palate abnormalities. The condition was named DiGeorge Syndrome.
Robert Shprintzen, a speech pathologist, had patients that he noticed had palate differences (velo), heart defects (cardio), a characteristic of facial differences (facial), as well as learning difficulties. He named this condition “velocardiofacial syndrome (VCFS for short).
Each of these specialists was observing consistent trends in describing individuals’ symptoms in his or her own specialty, but no one was able to give a defining explanation for the cause of these features. In the 1980’s, it was discovered that the deletions in chromosome 22q11.2 were present in most patients with DiGeorge Syndrome, as well as patients with other similar syndromes. With the increased availability of genetic testing, it was found that all of these patients were born with 22q11.2 deletion syndrome.
22q11.2 Deletion Syndrome
The most common rarely diagnosed genetic disorder you’ve never heard of
22q11.2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome.
Each child is born with a unique collection of symptoms.
Prevalence of Symptoms
Congenital Heart Defects
40%
Speech delays
70%
Hypocalcemia
50%
Kidney abnormalities
35%
Feeding difficulties
35%
Schizophrenia
25%
Some of the Most Common Symptoms
Heart
Tetralogy of Fallot, Interrupted aortic arch, Ventricular septal defect (VSD), Vascular ring, Truncus arteriosus
Speech
Submucosal cleft palate, Velopharyngeal dysfunction (VPD), Abnormal nasal air escape and hypernasal speech, Speech delays
Developmental
Delays (language and motor skills), Autism, Obsessive-compulsive disorder (OCD), Schizophrenia
Feeding
Feeding difficulties, GERD, Constipation