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What is DiGeorge Syndrome ?

DiGeorge syndrome is a developmental disorder of many body systems and is caused due to a defect in chromosome 22. It is currently known as ‘22q11.2 deletion syndrome’ in the medical field and is a more accurate description of the condition.

Heart defects, a cleft palate, low levels of blood calcium causing medical complications, poor functioning of the immune system and behavioral abnormalities are some of the common health problems connected to the DiGeorge syndrome.

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The number of problems and its severity, which are linked with DiGeorge syndrome, vary as per the individual cases and hence need treatment from specialists.

Before the detection of the chromosome defect as the cause, the condition was known by a number of names such as DiGeorge syndrome, velocardiofacial syndrome, etc. Even though the term ‘22q11.2 deletion syndrome’ is commonly used in present day context, the previous names are also used even now.

Symptoms of DiGeorge Syndrome

The type and severity of symptoms of DiGeorge syndrome may vary significantly depending on the body system that is affected and on the severity of defect. For some children, it may give clear signs at birth, but others may show the symptoms of the disorder in early childhood or the later stages or infancy.

The following are some of the signs and symptoms of DiGeorge syndrome:

  • Fatigue or easily feeling tired and weak
  • There may be poor blood circulation leading to the presence of bluish skin
  • Poor muscle tone
  • Breathing difficulties or short of breath
  • Difficulties in gaining weight
  • Spasms or twitching in the areas around the mouth, throat, arms or hands
  • Feeding difficulties
  • Frequent infections
  • Delays in normal growth cycle of the child. For example, delays in achieving normal developmental milestones such as rolling around, sitting up, etc.
  • Learning delays or problems
  • Problems and delays in speech development
  • Different facial features such as wide-set eyes, low-set ears or a narrow channel in upper lip

Causes of DiGeorge Syndrome

All individuals have two copies of chromosome 22, which are inherited from each of his/her parents. The chromosome roughly contains 500 to 800 genes. Deletion of a portion (estimated 30 to 40 genes) of chromosome 22 results in the condition known as DiGeorge syndrome, and the deleted portion of the chromosome is known as 22q11.2.

The deletion of genes occurs randomly in the mother’s egg or in the father’s sperm. The deletion of genes in chromosome 22 may also occur during the early phases of fetal development. Such a deletion is reflected in almost all cells of the body during the development of fetus.

DiGeorge Syndrome treatment

There is no cure for the DiGeorge syndrome. The treatments can help to correct the critical problems of defective heart and deficiency in calcium. Mental health or behavioral problems are more difficult, and the outcome can’t be predicted.

The patients of DiGeorge syndrome may be affected with a number of health disorders. Some of the treatments for a few conditions associated with DiGeorge syndrome are listed below:

  • Severe thymus dysfunction: Here the impairment of thymus is severe or the thymus may be absent. In this type the child is prone to suffer from severe infections. The treatment for this requires the transplant of thymus tissue with cells from bone marrow or specialized disease fighting blood cells.
  • Limited thymus gland function: The children with limited thymus suffer from frequent cold and ear infections. It need not be severe. Most of the children with moderate limited thymus abnormalities function normally and their immune system becomes better as they grow older.
  • Hypoparathyroidism: Hypoparathyroidism is controlled by giving calcium supplements, low phosphorus specialized diet and vitamin D supplements. If there is enough presence of parathyroid tissues, then the balancing of calcium and phosphorus levels is possible in the long run without the supplements and the special diet
  • Heart defects: Normally most of the heart defects are corrected by surgery
  • Cleft palate: A cleft palate or other defects of the palate can be repaired by surgical means.
  • Overall general development: A range of therapies are available for different impairments shown as under:
    • Articulation and occupational therapy for learning everyday skills
    • Speech therapy for improving the verbal skills
    • Developmental therapy for age-appropriate behaviors, social and inter personal skills.
    • In US, all these therapies, and the early intervention programs are provided by the state health department.
    • Mental health care: If the child is diagnosed with depression, attention deficit hyperactivity disorder, schizophrenia and/or other mental health or any behavioral conditions, then they are recommended for psychotherapy and psychiatric medications.

Prevention of DiGeorge Syndrome

In few cases, it is seen that the DiGeorge syndrome is passed on to the child from the affected parents. If your family has a history of DiGeorge syndrome or if you already have a child affected by DiGeorge syndrome, then you may consult a genetic counselor or a specialist in genetic disorders, to prevent the development of the condition in future pregnancies.

DiGeorge Syndrome life expectancy

If a person is able to survive childhood, DiGeorge Syndrome life expectancy can be as normal as it is for any other person. But, one needs constant medical care and support to treat associated medical disorders. The cost of treatment can be high and support groups can pitch in for financial aid and motivation.

DiGeorge Syndrome pictures

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