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Digeorge Syndrome

Digeorge syndrome describes a combination of certain congenital abnormalities (this means it is present at birth). DiGeorge syndrome is caused by a large deletion from chromosome 22, produced by an error in recombination at meiosis (the process that creates germ cells and ensures genetic variation in the offspring). Some of the facial characteristics of DiGeorge syndrome are bifid uvula, high-arched palate, small mouth and wide set eyes, down-slanting eyes, hooded eyes, long face, malar flatness, cupped low set ears, bulbous nasal tip, and a dimpled or bifurcated nasal tip. Immune deficiency of varying severity, hypocalcemia (which may lead to seizures) and hypoparathyroidism are some of the most prominent features of DiGeorge, (although not of Shprintzen syndrome which is characterized more by cleft palate and speech difficulties). The 22q11 microdeletion can be inherited and is found to be so in about 6% of cases. Parents with the 22q11 microdeletion have a 50% chance of passing the deletion to their offspring. 94% of DiGeorge cases are de novo deletions. Prenatal testing for DiGeorge syndrome is widely available and is recommended for fetuses that have been detected as having cleft palate or heart malformation through ultrasound, and have at least one parent testing positive for the 22q11 microdeletion.

DiGeorge syndrome is a rare congenital disease characterized a history of recurrent infection, heart defects and unique facial features. This deletion means that several genes from this region are not present in DiGeorge syndrome patients. Although researchers now know that the DGS gene is required for the normal development of the thymus and related glands, counteracting the loss of DGS is difficult. It is classified along with velo-cardio-facial syndrome (Shprintzen syndrome) and conotruncal anomaly face syndrome as a 22q11 microdeletion and is sometimes referred to by the simple name 22q11 syndrome. There are often heart defects particularly affecting the large vessels that lead out of the heart, such as Tetralogy of Fallot, truncus arteriosus, and an interrupted aortic arch. The mutation tends to result in disturbance of a process known as cervical neural crest migration in the forming embryo, which results in disruption of structures in the neck and upper chest. Although 90 per cent of cases of DGS may now be attributed to a 22q11 deletion, other chromosome defects have been identified, for example, on chromosome ten or 18.

Causes of Digeorge Syndrome

The common Causes of Digeorge Syndrome :

  • Recent estimates suggest that the deletion of band 22q11.2 occurs in approximately 1 in 4,000 live births.
  • conotruncal anomaly face syndrome
  • phenotypic variants of the same disorder.

Symptoms of Digeorge Syndrome

Some Symptoms of Digeorge Syndrome :

  • Downward slanting eyes.
  • Immune deficiency.
  • Hypoparathyroidism.
  • Recurrent infections.
  • Heart murmur.
  • Hypocalcemia.
  • Lack of T-cells.
  • Congenital heart disease.
  • Heart failure.
  • Learning disabilities.
  • Convulsions.

Treatment of Digeorge Syndrome

  • Heart defects will be evaluated by a cardiologist.
  • Speech and gastrointestinal specialists will evaluate feeding difficulties.
  • Immunology evaluations should be performed in all children with this deletion. To monitor T-cell disorder and recurrent infections, live viral vaccines should be avoided and all blood products for transfusions (if needed) should be irradiated unless cleared by an immunology physician.
  • A plastic surgeon and a speech pathologist will evaluate cleft lip and/or palate.
  • Recurrent infection is treated with antibiotics appropriate for the cultured organism
  • Treatments for heart problems

 


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