What is the cause of Digeorge Syndrome?

DiGeorge syndrome is a congenital disorder i.e. due to the problems within a developing embryo. This condition is caused due to chromosomal deficiency.

cause of DiGeorge syndromeDiGeorge syndrome can also be called as velocardiofacial syndrome.

The problems associated with this condition include cardiac defects, cleft palate, and abnormal facial features.

Some other problems include immune system defects and low levels of calcium in the blood.

There is no cure for DiGeorge syndrome. The long-term effect on children with DiGeorge syndrome varies greatly based on the organs affected.

Infants with DiGeorge syndrome are born with distinct facial features, such as:

  • Small jaw
  • Low-set ears
  • Wide-set eyes
  • Narrow and short groove in the upper lip
  • Lack of appetite
  • Failure to thrive
  • Slow mental development
  • Poor weight gain
  • Developmental delays such as speech delay
  • Cleft palate
  • Recurrent infections such as runny nose, oral thrush, diarrhea, or multiple bouts of pneumonia
  • Cramps like hand and finger spasms, muscle spasms in the face, arm or throat or twitches

The main cause of DiGeorge syndrome is due to chromosomal problems within the baby’s cells. Most of the babies suffering from DiGeorge syndrome lack a part of chromosome 22. Occasionally, there are some other chromosome abnormalities that may be the cause of DiGeorge syndrome such as deficiency of chromosome 10.

Generally, chromosome irregularities that cause DiGeorge syndrome cannot be inherited. Suddenly they happen during embryonic development, but the reason behind this is unclear.

Missing a part of chromosome 22 can affect all the parts it is responsible for developing. They include: thymus gland, parathyroid gland, heart outflow vessels, and some facial features.

The cause of DiGeorge syndrome is unknown, but in some rare cases, it is inherited from the mother. Having a family history of this condition can increase the risk of developing DiGeorge syndrome in your baby.

If your pediatrician suspects DiGeorge syndrome, then the recommended tests include:

Blood test: Child with DiGeorge syndrome can have low blood calcium levels, low blood phosphorous levels and also low T-cell count.

Chest x-ray: Heart defect can be determined with chest X-ray.

Conditions likely to be associated with DiGeorge syndrome:

  • Under developed parathyroid gland can lead to the complications such as cataracts, stunted growth, and mental retardation.
  • Underdeveloped thyroid gland leads to severe infections because of the deficiency of infection fighting T-cells.
  • If heart defects are left untreated, they can lead to heart enlargement, congestive heart failure, high blood pressure, endocarditis, and stroke.

Treatment for DiGeorge syndrome

Treatment mainly focuses on managing medical conditions that are due to the chromosome defects:

  • Underdeveloped parathyroid glands can produce very small amounts of parathyroid hormone. So, it cannot regulate the amount of phosphorus and calcium in the body. So, treatment for hypoparathyroidism includes calcium supplements, vitamin D and low phosphorus diet.
  • Missing of a part of thymus gland requires taking antibiotics or medications such as immune globulin.
  • For treating heart defects, surgery is considered to avoid long-term complications.

Posted in: Childhood Disorders

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