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)
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