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DiGeorge syndrome: Treatment, symptoms, advice and help

About DiGeorge syndrome

DiGeorge syndrome is a rare genetic disorder resulting from the deletion of a part of chromosome 22. It is a complex syndrome characterised by several physical malformations and dysfunction of the thymus and parathyroid glands.

DiGeorge syndrome: Incidence, age and sex

DiGeorge syndrome is an extremely rare congenital disorder which is present at birth. It seems to occur with an equal prevalence in both males and females.

Signs and symptoms of diGeorge syndrome: Diagnosis

The signs and symptoms of diGeorge syndrome result from limited functioning of the thymus and the parathyroid gland. The thymus gland is responsible for production of T cells which are significant in immune response. Therefore, underdevelopment of the thymus gland usually leads to recurrent occurrence of infections. Similarly, the parathyroid gland is responsible for maintaining optimum levels of calcium and phosphorus in the body. Any dysfunction in this gland will naturally result in quantitative disruption of calcium and phosphorus in the body causing serious problems.

Individuals affected with diGeorge syndrome present with typical physical abnormalities which constitute low set ears, long face with dimpled nasal tip, and wide set eyes with downward, hooded slant. Babies with diGeorge’s syndrome may experience feeding problems due to high arched and cleft palate. In occasional individuals, intellectual disability or psychological disorder may be encountered. Heart defects like ventricular septal defect (VSD) or Fallot tetralogy may be some of the associated features.

Genetic testing may be done to establish the diagnosis. This disorder may be diagnosed prenatally during the 18th week by ultrasonography. Moreover fluorescence in situ hybridization studies and specific blood tests may also help in diagnosing the condition. Blood levels of calcium, phosphorus and parathyroid hormone may help in confirming the diagnosis.

Causes and prevention of diGeorge syndrome

DiGeorge syndrome is a disorder resulting from deletion of a part of chromosome number 22. This is a chromosomal disorder and not an inherited disorder. The process of deletion of the chromosome is an accidental occurrence which may occur during development of the sperm or egg. There are increased chances of occurrence of diGeorge’s syndrome in instances of alcohol consumption during pregnancy.

DiGeorge syndrome: Complications

This syndrome has serious personal and social implications. The individual may not be able to take self-care which may result in frequent infections and rapid deterioration of health. Reduced level of calcium in the body may result in seizures. The survival rate is low due to increased chances of heart failure and repeated infections.

DiGeorge syndrome: Treatment

Unfortunately diGeorge syndrome has no cure. A multidimensional approach may be required to manage various problems of this complex syndrome. The individual may be prescribed calcium and vitamin supplements to substitute for the deficiency. The heart defects need to be evaluated and surgical management considered, if needed. Transplantation of foetal thymus may be considered in some individuals. The prognosis of this genetic disorder is quite poor and may require life long supportive care in individuals who manage to survive.