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Description

DiGeorge syndrome is a rare genetic disorder caused by a deletion of a small piece of chromosome 22. It is also known as 22q11.2 deletion syndrome. Symptoms of DiGeorge syndrome can vary widely, but may include heart defects, immune system problems, cleft palate, learning disabilities, and facial abnormalities. Treatment for DiGeorge syndrome is based on the individual's symptoms and may include surgery, medications, and therapies.

Synonyms

• DGS
• DiGeorge syndrome
• thymic hypoplasia

Symptoms (patient's findings)

• convulsions

Basic Lab Tests (measurements)

• plasma
  •      parathyroid hormone
• serum
  •      calcium
  •      immunoglobulin E
  •      immunoglobulin A
• whole blood
  •      platelets
  •      B-cell lymphocytes
  •      mean platelet volume
  •      giant platelets
  •      lymphocytes
  •      T-cell lymphocytes

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: