Tuesday, February 14, 2012

Achondraplasia dwarfism

There are 200 types of dwarfism.  Achondraplasia dwarfism is the most common form of dwarfism.  It affects 1 in every 15,000-40,000 births.  It is caused by a new mutation in the fibroblast growth receptor 3 gene or FGFR3.  Researchers do not know why this mutation occurs.  There is a protein within this gene that limits formation of bone from cartilage, especially in the long bones of the arms and legs.  So it is safe to say that achondraplasia dwarfism is a bone-growth disorder.

There are a few prominent features to someone who has achondraplasia dwarfism.  They will obviously have a short stature with an average adult male being 4 ft. 4 in. and an average adult female being 4 ft. 1 in.  They will have a large head with prominent forehead.  Their hands will be small with stubby fingers.  They will have an average size trunk with short arms and legs.

Most dwarves are born to average sized parents.  For this to happen, there had to be a new mutation of the FGFR3 gene. 

Breathing disorders, obesity, recurrent ear infections, crowded teeth, and decreased muscle strength are some common health issues associated with achondraplasia dwarfism.  Even though there is no cure for achondraplasia dwarfism, some health issues can be treated on an individual basis. 

Two to five percent of newborns being born with achondraplasia dwarfism do not survive longer than 12 months of age.  This would be due to both parents being an achondraplasia dwarf and the newborn inheriting both parental mutated genes. This would be considered the most severe case.  However, most dwarves live a normal lifespan with normal intelligence.


http://bones.emedtv.com/achondroplasia/achondroplasia-dwarfism-p3.html

1 comment:

  1. Excellent details and descriptions! I had no idea there were so many different kinds of dwarfism.

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