DiGeorge syndrome, also called 22q11 deletion syndrome, is a disorder caused by a defect in chromosome 22 at birth. It results in poor development of several body systems thus causing heart defects, low levels of calcium in the blood, weak immune system, learning disabilities, and other medical problems. DiGeorge syndrome is considered one of the most serious types of 22q11 deletion and types of treatment depend on the severity of the symptoms.
Symptoms
Signs and symptoms of DiGeorge syndrome may include the following:
- Difficulty breathing
- Hormone and growth problems
- Inability to gain weight
- Speech impairment
- Learning disability
- Poor blood circulation (heart defect)
- Bluish skin
- Poor muscle tone
- Frequent infections
- Weak immune system
- Gastrointestinal problems
- Twitching
- A gap in the roof of the mouth (cleft palate)
- Emotional problems
Causes
DiGeorge syndrome is caused by the deletion of a portion of chromosome 22. Each individual has two copies of chromosome 22, one inherited from their mother and the other from their father. Each chromosome has a long arm referred to as “q” and a short arm referred to as “p”. In 22q11 deletion, a tiny fraction of the long arm of chromosome 22 is missing (at position 11). Thus, an individual suffering from DiGeorge syndrome is estimated to be missing 30 to 40 genes. The deletion of genes may occur early during fetal development and cause a variety of changes in a child’s body system development.
Complications
Common complications arising from DiGeorge syndrome include the following:
- Heart defects
- Low levels of calcium in the blood
- A gap in the roof of the mouth (cleft palate)
- Appearances (small teeth, wide set eyes, small eyes, long face or flattened groove in the upper lip)
- Frequent infections (Thymus gland dysfunction)
- Poor vision
- Poor kidney function
- Speech impairment
- Learning disability
- Behavioral issues
- Health issues
- Autoimmune disorders
Prevention
Though there is no way of preventing DiGeorge syndrome, consulting with a doctor who specializes in genetic disorders or taking on genetic counseling is recommended for parents of children with DiGeorge syndrome and those who need help in planning future pregnancies at the risk of passing the disorder to the child. Also, patients should take precautions to avoid contracting infections associated with the disease, such as washing hands thoroughly with soap and water and avoiding close contact with individuals who have contagious diseases.
