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.
What is 22q Deletion Syndrome?
22q deletion syndrome can be defined as any of the syndromes listed below that share a common link. In each condition, there is a small amount of genetic material missing, termed a microdeletion, on the long arm (the q arm) of chromosome 22. Many now simply refer to all of these syndromes as 22q11.2 deletion syndrome:
- DiGeorge Syndrome (DGS)
- Velocardiofacial Syndrome (VCFS)
- Conotruncal Anomaly Face Syndrome
- Autosomal Dominant Opitz G/BBB Syndrome
- Cayler Cardiofacial Syndrome
- Shprintzen 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)
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)
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
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
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.
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.
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:
- Developmental Pediatrics
- Cleft Lip and Palate Center
- Resonance Disorders Program
- Speech Pathology
- ENT Services
- Interdisciplinary Feeding Evaluation
- Behavioral Health
Although there is no cure, many therapies and medical interventions are available to help address its associated symptoms.