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DiGeorge Syndrome – An Overview

Apr 05, 2017

DiGeorge Syndrome – An Overview

More commonly known as the 22q11.2 deletion syndrome, DiGeorge Syndrome is a condition that is caused due to a mutation in the 22nd chromosome and is characterized by faulty or abnormal development of biological systems in the body of the person suffering from it.  Faulty systems can lead to heart defects, problems in the immune system, presence of a cleft palate, inability to retain calcium in the body and the complications caused because of that, developmental problems in the behavior of the person and emotional instability. The medical complications caused by the DiGeorge syndrome are often severe and come in the way of a normal and healthy life.

The cause of DiGeorge syndrome is that a specific portion, known as the 22q11.2 portion, of the chromosome 22 which consists of almost 30 to 40 genes on it is deleted. This deletion of the portion of the chromosome is random and can take place in the sperm from the father or the egg from the mother, and is then passed on to the baby. In case, the chromosome with the deleted portion is directly inherited from the parents as a hereditary condition, the child may or may exhibit any symptoms pertaining to the syndrome.

There can be significant variations in the symptoms exhibited by the people suffering from the DiGeorge Syndrome depending on the severity of the damage to the systems in the person’s body. Some symptoms are immediately exhibited at birth and some may not appear till the baby grows up. They include:

  • Faulty circulatory system because of a heart defect that can lead to bluish color of the skin
  • Problem in breathing
  • Frequent spasms in the mouth, hands, arm and throat
  • Increased frequency in the occurrence of infections
  • Under-development of some body part leading to low-set ears, wide-set eyes or a cleft palate.
  • Delay in the normal growth of the child
  • Inability to gain weight
  • Problems in the gastrointestinal system
  • Inability to gain muscle
  • Delay in the development of speech
  • Behavioral and emotional problems

DiGeorge syndrome has no cure, the treatments for the syndrome are symptomatic i.e. they are focused on treating the symptoms and not the disease. The most common treatment for the DiGeorge Syndrome is prescription of multi-vitamin supplements to ensure the proper functioning of the system. In case of severe impairments of the organs, replacement surgeries are performed.

Disclaimer: The information given in this write-up is purely for educating the reader. It is not meant to be a substitute for any advice from a medical expert.

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