I met a really sweet woman today. She had a genetic disease. (not sure that disease is the right word)?

Question:

She was a little bit of a thing.maybe 3 ft. tall and all of about 50lbs in weight. She was not a midget or a dwarf.cute as a button though. I would like to know more about this disease... just very curious and also it would be very interesting to learn more.

Answers:
I think the disease you are writing about is congenital achondroplasia. It is transmitted dominantly which means that it appears in every generation. It is caused by a mutation in the Fibroblast Growth Factor Receptor Gene 3.
People with this disease have normal intellectual capabilities. Their growth is stunted on account of long bone underdevelopment. The disease cannot be treated so that the affected person reaches normal height. Due to the mutation on FGFR3, these persons are born with multiple bone abnormalities aside from the small stature. However, these secondary bone abnormalities (bow legs, small jaw and others) are not lethal.

I met a really sweet woman today. She had a genetic disease. (not sure that disease is the right word)?

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