What is DiGeorge Syndrome, Causes and Symptoms of DiGeorge Syndrome

DiGeorge Syndrome

  • Posted on- May 21, 2018
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DiGeorge Syndrome

DiGeorge syndrome is a disease that is caused by a defect happen in chromosome 22. Further, it results in the poor development of various body systems.

Medical problems associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.

The number and severity of symptoms associated with DiGeorge syndrome differentiate greatly. However, almost everyone suffering with DiGeorge syndrome needs treatment from specialists in a variety of fields.

Before the discovery of the chromosome 22 defect, the disorder was known by several names — DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, CATCH22 and others.

Causes of DiGeorge Syndrome

DiGeorge syndrome is caused by the removal of a portion of chromosome 22. Each person is consisting of two copies of chromosome 22, one inherited from each parent.

If a person is having DiGeorge syndrome, one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven't been clearly identified and aren't well-understood. The region of chromosome 22 that's deleted in DiGeorge syndrome is known as 22q11.2.

The extraction of genes from chromosome 22 generally happens as a random event in the father's sperm or in the mother's egg or it may occur early at the time of fetal development.


Symptoms of DiGeorge Syndrome

Some of the signs and symptoms of DiGeorge syndrome can relate depending on what body systems are affected and how severe the defects are. The symptoms can be present from birth, but others may not appear until later in infancy or early childhood.

Following are the signs and symptoms:

  • Breathing problems
  • Frequent infections
  • Some of the specific facial features, like an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip
  • A gap in the roof of the mouth (cleft palate) or other problems with the palate
  • Delayed growth
  • Difficulty feeding and gastrointestinal problems
  • Failure to gain weight
  • Poor muscle tone
  • Development i.e. delayed, like delays in rolling over, sitting up or other infant milestones
  • Delayed speech development
  • Learning difficulties and behavior problems


Treatment for DiGeorge Syndrome

Some of the available treatments and therapy for DiGeorge syndrome include:

  • Hypoparathyroidism – Usually, hypoparathyroidism can be managed with calcium supplements and vitamin D supplements.
  • Limited thymus gland function - If your child is having some thymic function, infections can be frequent, but not necessarily severe.
  • Major thymus disorder - If the dysfunction of the thymus is much or there's no thymus, your child is at risk of a number of severe infections. Generally, treatment requires a transplant of thymus tissue, specialized cells from bone marrow or specialized disease-fighting blood cells.
  • Cleft palate - A cleft palate or other abnormalities of the palate and lip can usually be surgically repaired.
  • Heart defects - Most of the heart defects that are associated with DiGeorge syndrome require surgery to repair the heart and improve the supply of oxygen-rich blood.
  • Mental health care - Treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), depression, schizophrenia, or other mental health or behavioral disorders.


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