DiGeorge syndrome has treatment options, but currently, definitive cure is still being researched. Doctors will closely monitor children and adults with this condition to check for problems. Doctors will treat these problems as they occur, if needed. Treatments can usually correct critical problems such as a heart defect or cleft palate. Other health issues such as developmental, mental health or behavioral problems can be addressed or monitored as needed. Treatments and therapy for DiGeorge syndrome may include interventions for
Hypoparathyroidism
- Hypoparathyroidism can usually be managed with calcium supplements and vitamin D supplements.
Heart defects
- Most heart defects associated with this syndrome require surgery soon after birth to repair the heart and improve the supply of oxygen-rich blood.
Disruption of thymus gland function
- If your child has some thymic function, infections may be frequent, but not necessarily severe. These infections are usually colds and ear infections.
- They are generally treated as they would be in any child. Most children with limited thymic function follow the normal schedule of vaccines. For most children with moderate thymus impairment, immune system function improves with age.
- If thymus impairment is severe or there's no thymus, your child is at risk of several severe infections. Treatment requires a transplant of thymus tissue, specialized cells from bone marrow or specialized disease-fighting blood cells.
- A cleft palate or other abnormalities of the palate and lip can usually be surgically repaired.
Overall development
- The child may likely benefit from a range of therapies including speech therapy, occupational therapy and developmental therapy.
- Early intervention programs providing these types of therapy are usually available through a state or county health department.
Mental health care
- Appropriate treatment may be recommended if your child is later diagnosed with attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder, depression, or other mental health or behavioral disorders.
Management of other conditions
- These may include addressing feeding and growth issues, hearing or vision problems and other medical conditions.
Once diagnosed with DiGeorge syndrome, there is no one plan of treatment for all because it affects everyone differently. Treatment and management may be tailored to the individual based on age and symptoms. Because it is a multisystem disorder, it may be necessary to have multiple, ongoing evaluations, treatments and interventions. However, it is important to note that some children may have few signs or symptoms and require minimal assistance. Almost all others respond well to tailored treatment programs.
What is DiGeorge syndrome?
DiGeorge syndrome is a genetic disorder, which is also known as 22q11.2 deletion syndrome. It occurs when a small part of chromosome 22 is deleted or missing during fetal growth. It arises during fetal development and manifests with a range of symptoms that vary in incidence and severity among children. DiGeorge syndrome is a rare primary immunodeficiency disorder with a wide range of presenting signs and symptoms. It is due to chromosomal defects that arise early in gestation. Possible signs and symptoms may include
- Difficult breathing
- Twitching/spasms of the periorbital muscles (muscles around the eye) and muscles in the limbs, muscle weakness and poor tone
- Frequent infections
- Delayed development, learning disabilities or behavioral problems
- An underdeveloped chin
- Low-set ears
- Wide-set eyes
- A deep groove in the upper lip
- Cleft palate or other palate abnormalities
Possible causes of DiGeorge syndrome
- The real cause of this syndrome is still being debated and researched.
- If a person has DiGeorge syndrome (22q11.2 deletion syndrome), one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes.
- Deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or mother's egg, or it may occur early during fetal development.
- Rarely, deletion is an inherited condition passed to a child from a parent who also has deletions in chromosome 22, but may or may not have symptoms.
- In about 9 out of 10 cases (90 percent), the portion of DNA was missing from the egg or sperm that led to pregnancy.
DiGeorge syndrome can affect every system of the body. That's why affected children must be treated by a team of pediatric specialists who can identify physical and psychosocial needs that these people may have. Severity of the condition varies. Some children can be severely ill and very occasionally may die from it, but many others may grow up without realizing they have it. People with symptoms are managed well if the condition is anticipated in the fetal stage.
National Organization for Rare Disorders
Immune Deficiency Foundation
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Common Medical Abbreviations & Terms
Doctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition, prescription drugs they are to take, or medical procedures that have been ordered. There is no approved this list of common medical abbreviations, acronyms, and terminology used by doctors and other health- care professionals. You can use this list of medical abbreviations and acronyms written by our doctors the next time you can't understand what is on your prescription package, blood test results, or medical procedure orders. Examples include:
- ANED: Alive no evidence of disease. The patient arrived in the ER alive with no evidence of disease.
- ARF: Acute renal (kidney) failure
- cap: Capsule.
- CPAP: Continuous positive airway pressure. A treatment for sleep apnea.
- DJD: Degenerative joint disease. Another term for osteoarthritis.
- DM: Diabetes mellitus. Type 1 and type 2 diabetes
- HA: Headache
- IBD: Inflammatory bowel disease. A name for two disorders of the gastrointestinal (BI) tract, Crohn's disease and ulcerative colitis
- JT: Joint
- N/V: Nausea or vomiting.
- p.o.: By mouth. From the Latin terminology per os.
- q.i.d.: Four times daily. As in taking a medicine four times daily.
- RA: Rheumatoid arthritis
- SOB: Shortness of breath.
- T: Temperature. Temperature is recorded as part of the physical examination. It is one of the "vital signs."
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