provides a comprehensive look at
the who, what, when and how of Achondroplasia
Achondroplasia definition - medical term
The most common form of short stature with disproportionately
short limbs -- dwarfism with short arms and legs. Achondroplasia is caused by mutation
in the fibroblast growth factor receptor-3 gene (FGFR3), which is located on chromosome
4 in chromosome band 4p16.3.
Aside from short arms and legs, the fingers are short and the ring and middle
fingers diverge giving the hand a trident (three- pronged) appearance. There is
a typically large head with prominence of the forehead (frontal bossing), underdevelopment
(hypoplasia) of the midface with cheekbones that lack prominence, and a low nasal
bridge with narrow nasal passages. The brain is normal and intelligence is entirely
normal in achondroplasia. However, the complications of achondroplasia can impinge
on the brain and the spinal cord.
Achondroplasia is inherited as an autosomal dominant trait affecting boys and
girls equally. The parents of children with achondroplasia are more often than not
normal. Most cases of achondroplasia are due to new mutations that appear for the
first time in the affected children.
Achondroplasia can be diagnosed before birth by molecular means. The limited
number of changes in the FGF3 gene responsible for achondroplasia and the ease with
which they can be detected provide the basis for a simple method for prenatal diagnosis.
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