Achondroplasia Syndrome

This is the genetic variation that produces small bodied people whose bodies differ in proportion to large bodied individuals. The main feature is disproportionate shortening of arms and legs.
There are other causes of short stature which are not principally genetic in origin - i.e. do not relate to the FGFR3 site on Human Chromosome 4.

Genetic Cause.

A single gene variation produces this condition.
In 1994 Dr. John Wasmuth and his colleagues found that a variation in the fibroblast growth factor receptor-3 (FGFR3) on Human Chromosome 4 causes achondroplasia. (ref. Human Growth Foundation documentation)
85% of occurrences are by a spontaneous mutation of genetic material. It is inherited as a dominant transferable characteristic, and requires a variant gene from only one parent (heterozygous dominant?).

Other sources of information.

Human Growth Foundation has an excellent page in layman's language on Achondroplasia. copyright 1996
http://www.hgfound.org/

South Bank University has good documentation of this condition. It is detailed medical information so unless your familiar with the language have a dictionary to hand.  This page is starting point.
http://www.sbu.ac.uk/dirt/museum/p4-1521.html
There are others on this site. Case studies, bone structure X-rays etc.

Look up FGFR3 on Human Chromosome 4

See also http://www.achondroplasia.co.uk/ , a site exclusively devoted to achondroplasia

This is a page from www.genefaith.org created by A. J. Palmer.
This page was updated on 2nd December 2002

Achondroplasia.htm