Doctor, Doctor...
By Dave Hall
For all you hypochondriacs out there, Dave Hall continues his regular look at a some of the more unusual medical conditions, as well as some you thought you knew all about.
This week: SOTOS SYNDROME.
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Condition – Sotos syndrome is a rare genetic disorder caused by a mutation of the NSD1 gene, where the head grows excessively during the first 2 or 3 years of life. This is often called cerebral gigantism – because the head can get very large. Those unlucky enough to have the disorder may be large at birth and are often taller and heavier. They can also experience mild mental retardation, delayed development and speech impairments amongst other things. It is named after Juan Sotos who reported the disease in 1964.
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Contagion – 95% of cases occur in people with no family history of the disease. The chance of contracting it is about 1 in 14,000 births. Not huge!
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| Danger of death – The condition is not life-threatening and a normal life can be lived. The delayed development may also improve over time and into adulthood. |  |
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Incurability? – There is no treatment for Sotos syndrome, so therapy is in the form of counselling and surveillance. Some drugs have also led to increased comfort for sufferers.
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Likelihood of getting time off work – By the time you're old enough to work full time, you should be over the worst of it, but it could be worth a try to blag some early exits from the office.
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| Brag-ability – Not sure you’d be wise to tell your mates you have a big head, as big heads don’t always lead to big brains. Still, one other regular side effect is an extremely large scrotum and penis in males – now that could well be worth a shout. |
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Overall ridiculousness – A bit of a rare one but certainly not one to get big-headed about. Total score (depending on whether you’re well hung or not): |
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More conditions to come soon:
Heterochromia, Duane Syndrome and more.
Find more curious conditions in Doctor Doctor. If you can't wait for the next Doctor Doctor, then why not find a Phunny Phobia to keep you going?
Photo: Proportions of the Head by Leonardo da Vinci.
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