DiGeorge Syndrome

What is DiGeorge Syndrome ?

DiGeorge syndrome is a condition that results due to the presence of a defect in chromosome 22, which causes underdevelopment of a number of body systems. In medical terms, it is known as 22q11.2 deletion syndrome.

Some of the medical complications that accompany the DiGeorge syndrome include a cleft palate, cardiac abnormalities, behavioral disorders, dysfunction of the immune system and different condition caused due to decreased levels of calcium.

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The degree of severity as well as the number of disorders that accompany DiGeorge syndrome differs from one affected individual to another. A majority of DiGeorge syndrome patients require treatment from different types of specialists.

DiGeorge syndrome was known by many different names such as velocardiofacial syndrome, etc. before the cause was found to be the chromosome 22 defect. Even though the medical term ‘22q11.2 deletion syndrome’ is an apt description of the condition and is more often used in the current context, the other names for the disorder is also used as of today.

DiGeorge syndrome  Symptoms

The symptoms of DiGeorge syndrome tend to differ greatly in severity and type. Such difference generally relates to the number of body systems affected as well as the severity of such defects. A few symptoms may be evident at birth, but it other signs may make an appearance in late infancy or early childhood.

Some symptoms of DiGeorge syndrome are listed below:

  • Poor circulation of blood rich in oxygen may result in bluish appearance of the skin
  • Failure to flourish
  • Easy tiredness or weakness
  • Inability to gain weight
  • Shortness of breath
  • The muscle tone is poor
  • Spasms or ticks of the arms, hands, or areas around the throat and/or mouth
  • Feeding problems
  • Increased infections
  • Developmental delays such as delays in developmental milestones like rolling over, sitting, crawling or walking
  • Difficulties or delays in learning
  • Speech development may be delayed
  • Unique facial characteristics such as hooded and/or wide-set eyes, low-set ears, a comparatively long face and flattened, narrow or short groove in the upper lip
  • Presence of cleft palate or other issues of the palate

Some of the complications that may result from DiGeorge syndrome include cardiac defects, dysfunction of the thymus gland, hypoparathyroidism, behavioral, learning, and mental health difficulties, comparatively short stature in relation to the average height of family members, autoimmune disorders, hearing disabilities, abnormal kidney and vision problems.

Causes of DiGeorge syndrome

DiGeorge syndrome is caused as a result of deletion of a part of chromosome 22. Two copies of chromosome 22 are present in every human, wherein one copy is inherited from the father and one copy is passed on by the mother. The chromosome 22 approximately contains about 500 to 800 genes

An individual affected by DiGeorge syndrome has one copy of chromosome 22 that is missing some segment and which contains around 30 to 40 genes. Most of these missing genes are not understood clearly and have not been identified as yet. The section of chromosome 22 that gets deletion in patients of DiGeorge syndrome is referred to as 22q11.2. A few individuals with DiGeorge syndrome experience a shorter deletion in the same segment of chromosome 22

The elimination of genetic material from chromosome 22 generally happens due to random events that occur during formation of the paternal sperms or the maternal eggs, or during the very early stages of conception. Hence, the chromosomal defect is duplicated in almost all or all the cells of the body at the time of fetal development.

DiGeorge syndrome treatment

DiGeorge syndrome has no known cure. The treatments are generally aimed at correcting vital defect such as cardiac abnormalities or low levels of calcium. The alleviation of behavioral problems and mental health and developmental issues is more difficult, with less predictable prognosis

The treatments for the conditions and complications that result due to DiGeorge syndrome are discussed below:

  • A child with restricted functioning of the thymus gland may be prone to infection. Such infections may be mild in nature and generally lead to persistent episodes of ear infections and colds. They can be treated as per the normal practiced procedures. Additionally children who have impaired thymic function generally adhere to the normal program of vaccines. The immune system usually tends to enhance as children with compromised thymic function grow older.
  • Children with severely limited thymic function or with a missing thymus are usually prone to developing several types of severe infections. Treatment for severe thymus dysfunction involves transplant of specific cells from the bone marrow, of the thymus tissue or of specific blood cells capable for fighting diseases
  • Hypoparathyroidism is generally treated with the intake of calcium and Vitamin D supplements as well adhering to a low phosphorus diet. When a child with DiGeorge syndrome has a sufficient part of the parathyroid tissue as intact, then as he/she grows older, the gland will eventually be able to regulate phosphorus and calcium levels without the need for a specific diet.
  • Cleft palate, cardiac defects and other physical abnormalities can be treated via surgery
  • Speech therapy, behavioral therapy, psychotherapy, counseling, etc. is helpful for treating the behavioral, language, mental health, social and emotional disorders associated with DiGeorge syndrome.

DiGeorge Syndrome life expectancy

In case, the child is able to survive DiGeorge syndrome, the life expectancy can be as normal as possible.  However, there is need for continual medical car and support for related medical disorders.  The treatment can be high and support groups can help with financial sponsorship and encouragement.

DiGeorge Syndrome pictures

Here are DiGeorge syndrome photos that show the characteristics of this syndrome

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