DiGeorge Syndrome: Symptom, Treatment

Overview

DiGeorge syndrome, also referred to as 22q11 deletion syndrome, is a rare congenital disorder characterized by cardiac defects, abnormal facial features and poor immune system function, which typically results from an abnormal gene on chromosome 22.


Causes

DiGeorge syndrome, as mentioned above, is caused by the deletion of a small region of chromosome 22. This kind of condition usually results from some random events happening during the fetal development. In rare cases, a hereditary factor that a parent is also affected by the deletions of chromosome 22 but asymptomatically may lead to this disease.

In addition, diabetes in the mother and fetal alcohol syndrome (FAS, a physical and mental disorders in children caused by a heavy alcohol exposure during pregnancy, leading to learning and behavioral problems) are considered as the potential triggers too.


Symptoms

Symptoms of DiGeorge syndrome vary from person to person depending on different type and severity. Common signs may include:

  • Completely or partially absent thymus gland and parathyroid glands;
  • Abnormalities of the heart;
  • Cleft palate;
  • A defective immune system;
  • An abnormally low level of calcium in the blood;
  • Malformations of the genitals or urinary tract.

Apart from those symptoms that may appear at birth, there still are some problems happening during the development of the baby, such as:

  • Developmental delays and learning disabilities;
  • Frequent infections;
  • Certain facial features, such as an underdeveloped chin;
  • Difficulty feeding, failure to gain weight or gastrointestinal problems;
  • Breathing problems;
  • Poor muscle tone.

It is also believed that DiGeorge syndrome is associated with juvenile rheumatoid arthritis and immune thrombocytopenic purpura.


Diagnosis

Typical diagnosis may include prenatal diagnosis and neonatal examination.

  • Prenatal diagnosis

Take ultrasound examination around the eighteenth week of pregnancy, which aims to detect the abnormalities in the development of the heart or the palate.

Take fluorescence in situ hybridization (FISH), which is conducted by cell samples obtained by amniocentesis around the fourteenth week of pregnancy. It will help to make a definite diagnosis of DiGeorge syndrome.

  • Neonatal examination

If no more prenatal testing has been taken, the child’s facial features at birth could be an alert for the presence of DiGeorge syndrome.

In other cases, if the absence or abnormal location of the thymus gland has been noticed, DiGeorge syndrome should be taken into consideration.

Then, blood tests for calcium, phosphorus, and parathyroid hormone levels, and the sheep cell test for immune function are usually recommended.


Treatments

There are different treatment options for different symptoms of DiGeorge syndrome.

  • Hypocalcemia

Patients with hypocalcemia are usually given calcium and vitamin D by mouth. Transplantation of fetal thymus tissue or bone marrow are sometimes suggested for sever cases.

  • Heart defects

Patients with serious heart defects are usually treated surgically.

  • Defective immune function

Patients with defective immune function should have low-phosphorus diets. Patients are not recommended to be immunized with vaccines made from live viruses or given corticosteroids.


Keywords: DiGeorge syndrome; 22q11 deletion syndrome.


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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.