Bernice Morrow, PhD, discusses 22q11.2 deletion syndrome, a disorder caused by the deletion of a piece of chromosome 22.
22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. It has a variety of symptoms that can affect almost any part of the body. The features of this syndrome vary widely, even among affected members of the same family. Common signs that often present at birth include heart abnormalities, a cleft palate, and distinctive facial features. Patients with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system, and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease.
Affected individuals may also experience:
- Breathing problems
- Kidney abnormalities
- Low levels of calcium in the blood (which can result in seizures)
- A decrease in blood platelets (thrombocytopenia)
- Significant feeding difficulties
- Gastrointestinal problems
- Hearing loss
- Skeletal differences, including mild short stature and, less frequently, abnormalities of the spinal bones.
Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and learning disabilities. Later in life, they are at an increased risk of developing mental illnesses such as schizophrenia, depression, anxiety, and bipolar disorder. Additionally, affected children are more likely to have attention deficit hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorders that affect communication and social interaction.
22q11.2 Deletion Syndrome History
Because symptoms of this disorder are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.
To learn more about 22q11.2 deletion syndrome, visit https://rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome
For more information on rare genetic disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/