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Cartilage Hair Hypoplasia |
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Cartilage Hair Hypoplasia is a rare syndrome affecting the immune system and
causing skeletal dysplasia. It is also known as Metaphyseal
Chondrodysplasia-McKusick Type . CHH is a recessive gene which means that both
parents would have to be carriers of the gene. The results are 25% average
size no carrier, 50% average size carrier, and 25% CHH.
Currently out of 8000+ members in the Little People of America, only 40 have
been diagnosed with CHH. Using statistics from LPA, I have been able to
determine that the odds of CHH in the United States are somewhere in the
neighborhood of 1 in 1,150,000. Each year at the National LPA
Conference, there is a meeting of people with CHH usually hosted by one of the
members of LPA's Medical Advisory Board. Past presenters have been Dr.
Wright, Dr. Francomano, and of course Dr. McKusick.
Dr. McKusick is the founding father for discovery of
people with CHH. Early in the 60's he set out to do research of the Amish.
In the Pennsylvania Dutch Amish population, CHH occurs in 1 of every 1000
births. In Finland CHH occurs in 1 of every 23,000 births.




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Arturo Gil's Site

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