TO: Men all over the planet
FROM: A very rare person (Literally!)
RE: Facts on my disability
DATE: July 29, 2009
Because I know some men (and women, too) deal better with cold, hard facts, I thought I’d provide some information on my physical disability, Freeman-Sheldon Syndrome. We’re small in numbers, but we’re a powerful bunch, a force to be reckoned with.
Check out these facts to broaden your knowledge:
Ernest Freeman and Joseph Sheldon, two British physicians, first described this distinct disorder in 1938. The syndrome is characterized by skeletal malformations in the hands and feet and facial abnormalities. Freeman-Sheldon Syndrome (also known as “Whistling Face Syndrome”) is a rare genetic condition which characteristically includes a small “whistling” mouth, a flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose. Intelligence is usually normal. Most of the features of this syndrome are due to muscle weakness.
Usually, FSS follows an autosomal dominant inheritance pattern. With this pattern of inheritance, the syndrome appears when a child inherits one defective gene from one parent. In some families, FSS follows an autosomal recessive inheritance pattern. In these cases, the condition only appears when a child receives the same defective gene from each parent. This syndrome can also occur sporadically, that is, neither parent passes on the gene responsible for FSS.
As of 2001, the gene responsible for FSS has not been located. Current genetic research is focusing on chromosome 11. Some experts consider FSS a form of distal arthrogryposis, which has been mapped to chromosome 11.
Freeman-Sheldon Syndrome is most recognizable by its facial features. The hallmark of the syndrome is the small mouth.
There are less than 100 reported cases.
Life expectancy for infants diagnosed with Freeman-Sheldon syndrome is normal.
See, we don’t have the plague. It’s not that hideous. Really. So next time you see me, GUYS, don’t feel like you have to run furiously in the other direction. Or, hey, why not ask me about it? I’d love to talk to you….
P.S. I’ve also had my case featured in countless medical journals. Now tell me you don’t find that hot!!!
[Photo via ffffound]