In 1979, Dr. BD Hall was the first to describe CHARGE disorder. The name CHARGE is an acronym for the effects of the disorder on the body.
- C – Coloboma of the eye.
- H – Heart defects.
- A – Atresia of the nasal choanae.
- R – Retardation of growth or retardation of development.
- G – Genital or urinary defects or abnormalities.
- E – Ear deafness or abnormalities.
CHARGE is a genetic syndrome that occurs when CHD7 on Chromosome 8 mutates. In clinical studies, about 60% of patients with CHARGE test positive for the mutation. Due to the complex nature and combined birth defects, the condition can be difficult to diagnose if a doctor is not familiar with CHARGE.
There is a genetic test that can be administered to diagnose CHARGE. Unfortunately, the test only works in 60% of the cases, so clinical knowledge of the condition and the six areas affected –combined with communication between treating physicians – is important.