22q11.2: Mystery disease that has no name and no cure
Symptoms associated with 22q syndrome are similar to autism but the patients are not technically autistic.
In Short
- 22q11.2 is a chromosomal condition with no cure
- Syndrome is caused by deletion of a portion of chromosome
- Patients with 22q syndrome have delayed physical development
An unnamed disease recently made headlines in the UK after a five-year-old girl was diagnosed with it. The disease is nothing short of riddle for the doctors and scientists, and symptoms are so overlapping with other common health conditions that it has not been universally named.
Some call it DiGeorge syndrome or alternatively Shprintzen syndrome but there is no all-accepted name.
It is associated with what is called 22q syndrome. The full name of the syndrome is 22q11.2, where "22" reflects the chromosome number. Humans have 23 pairs of chromosomes in every cell of their bodies. So, 22q11.2 is comparable to an IP address on internet with only difference that it indicates a location on a chromosome.
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The syndrome is caused by deletion of a portion of chromosome. It occurs near the middle of 22nd chromosome at a location designated as q11.2.
Some news reports published in the UK quoted the mother of the recently diagnosed girl as saying that there were only four patients with 22q syndrome - one each in the UK, the US, Australia and New Zealand. Kids below five have been found to be the most affected by 22q syndrome.
However, medical journals report that 22q syndrome is grossly underreported as each of the patient may show 180-200 related conditions. It is often confused with other diseases. Some have estimated the frequency of the occurrence of 22q syndrome to be as common as one in every 3,000 live births.
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Patients with 22q syndrome show delayed physical development, including underdeveloped jaw, learning disability, very weak immunity, speech impairment, flaccid muscles, congenital heart defect, various kinds of allergies, cleft lip and cleft palate.
Symptoms associated with 22q syndrome are similar to autism but the patients are not medically autistic.
There's no cure for 22q syndrome. Treatments are provided to address critical health concerns. Plastic surgery can be done to repair cleft palate.
(The story has been updated.)
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