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Other Names :  

22q11.2 Deletion Syndrome, Velocardiofacial syndrome, Shprintzen syndrome, Conotruncal anomaly face syndrome, Strong syndrome, Congenital thymic aplasia, and Thymic hypoplasia

What is Digeorge Syndrome ?  

The condition is caused by the deletion of a small piece of the 22nd chromosome. The name “22q11.2” signifies the location of the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2.

Cause(s) :  
  • Genetic Mutation
Symptoms :  
  • Unusual facial appearance (Cleft palate)
  • Heart defects (Tetralogy of Fallot)
  • Thymus gland abnormalities
  • Breathing problems
  • Frequent infections
  • Poor muscle tone
  • Failure to gain weight
  • Bluish skin (Cyanosis due to poor circulation of oxygen-rich blood)
  • Kidney problems
  • Hearing loss and laryngoesophageal anomalies due to craniofacial syndromes
  • Growth hormone deficiency
  • Seizures
  • Hypocalcemia (lack of calcium leading to skeletal abnormalities)
  • Autoimmune disorders
Diagnosis and Tests :  
  • Fluorescence in situ hybridization (FISH)
  • Genetic Testing
Category :  Congenital Conditions

Specialist to consult :  Paediatrics

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