22q11.2 Deletion Syndrome Overview
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.  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 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, 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 recogonize.  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, Autism 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.
The Syndrome
     
A syndrome is a recognizable pattern of physical and behavioral features. The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22, which is present from the time a child is conceived. Present in 1 out of every 1,000 live pregnancies, in 1 in 68 children with congenital heart disease, and in 5 to 8 percent of children born with cleft palate, the 22q11.2 deletion is almost as common as Down syndrome, a widely recognized chromosomal disorder. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the deletion is affected in the same way. Though not always present, the key characteristics of this syndrome include combinations and varying degrees of:

  •   Heart defects
  •   Palate differences
  •   Feeding and gastrointestinal difficulties
  •   Immune system deficiencies
  •   Growth delay
  •   Kidney problems
  •   Hearing loss
  •   Low calcium and other endocrine issues
  •   Cognitive, developmental and speech delays
  •   Behavioral, emotional and psychiatric differences (ADHD, autism, anxiety, etc.)
     
Treatment
     
Although there is no cure for the 22q11.2 deletion, many therapies and medical interventions are available to help address its associated symptoms. The earlier these symptoms are detected, the more doctors can do to help. That’s why, when diagnosed with this condition, evaluation is recommended in the following areas:

  • Audiology
  • Cardiology
  • Child development and psychology
  • Cleft palate
  • Ear, nose and throat
  • Endocrinology
  • Feeding/nutrition
  • Genetics
  • Immunology
  • Neurology
  • Orthopedics
  • Urology