22q Deletion Syndrome

This syndrome occurs in approximately 1 out of every 4,000 live births and is most often de novo, meaning the patient is the first in the family to have this deletion.  

Overview
Signs & Symptoms
Causes
Treatment

What is 22q Deletion Syndrome?

22q11.2 deletion syndrome (22q) can affect any system of the body, however most children with 22q have heart, immune, learning, speech, and/or behavior difficulties. Each person with 22q has their own unique needs, and interdisciplinary team care is the best management approach.

22q is also known as:

  • DiGeorge Syndrome (DGS)
  • Velocardiofacial Syndrome (VCFS)
  • Conotruncal Anomaly Face Syndrome
  • Autosomal Dominant Opitz G/BBB Syndrome
  • Cayler Cardiofacial Syndrome
  • Shprintzen Syndrome
In approximately 1 in 10 families, the deletion is present because one of the parents has the same deletion and passes it on to their baby. As a result, parents of a baby born with this syndrome should have a blood test to determine their chances of having other children with the syndrome.

What are the Symptoms of 22q Deletion Syndrome?

There are a variety of physical and behavioral disorders that have been linked to 22q11.2 deletion syndrome. The syndrome has the potential to impact every system in the body and can therefore lead to a wide-range of health issues.

The majority of these patients also have congenital heart defects, most often these are conotruncal abnormalities:

  • Tetralogy of Fallot

  • Interrupted aortic arch

  • Ventricular septal defect (VSD)

  • Vascular ring

  • Truncus arteriosus

Or Palatal defects:

  • Submucosal cleft palate

  • Velopharyngeal dysfunction (VPD) - abnormal nasal air escape and hypernasal speech  

Some of the other common problems include:

  • Feeding difficulties, including nasal regurgitation of food and fluids, vomiting, gastroesophageal reflux (GERD)

  • Hypocalcemia

  • Gastrointestinal problems, including constipation, and GERD

  • Immune system disorders, including recurrent ear infections and sinusitis, respiratory infections, and autoimmune diseases

  • Kidney disorders – approximately 35 percent of these patients may have a missing or malformed kidney.

  • ENT problems, including laryngeal webs and external ear anomalies

  • Asymmetric crying facies

  • Cleft lip and palate

  • Orthopedic issues, such as scoliosis, club feet, or cervical spine abnormalities

  • Inguinal, umbilical and diaphragmatic hernias

  • Growth problems, sometimes associated with growth hormone deficiency

  • Developmental delays, including both language and motor skills delays

  • Autism

  • Obsessive-compulsive disorder (OCD)

What Causes 22q Deletion Syndrome?

22q11.2 deletion syndrome is a genetic defect caused by a microdeletion on the long arm (q arm) of the 22 chromosome. 

How is 22q Deletion Syndrome Treated?

Since 22q11.2 deletion syndrome has the ability to affect every system of the body, it is important that affected children are treated by a team of pediatric specialists who can identify the variety of physical and psychosocial needs these patients may have. The earlier these symptoms are detected, the more we can do to help. That’s why evaluation is recommended in some or all of the following areas:

Although there is no cure, many therapies and medical interventions are available to help address its associated symptoms. 

Outcomes for Patients with 22q Deletion Syndrome

22q Deletion Syndrome can affect every system of the body. That's why it's important that affected children are treated by a team of pediatric specialists who can identify the physical and psychosocial needs that these patients may have. Although there is no cure for the 22q11.2 deletion, the 22q Center at Nationwide Children's Hospital offers therapies and medical interventions to help address its associated symptoms.

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