1. Presented by: Britt Shields and Connor Nash

2.  Achondroplasia is the common cause of dwarfism  Approximately 1 in every 25,000 have this disorder  The average height of a person with Achondroplasia is beween 4 feet and 4 feet 4 inches

3.  Achondroplasia is autosomal (sex cell) dominant. It is a result of an abnormality in the fibroblast growth factor receptor gene 3.  Most people with Achondroplasia don’t have parents with the disorder. This is because of a new mutation.  To have Achondroplasia the person has to be heterozygous because a homozygous genotype is fatal.  If a person has the disease they are heterozygous. People can get the disease from their parents or from a new muation.

4. AA (dead)Aa (Achondro plasia) aa (normal) A a AaAa aaaa 25% chance of death, 50% chance of Achondroplasia, 25% chance of normalcy

5. Aa (Achondr oplasia) aa (normal) Aa (Achondr oplasia) aa (normal) aaaa A a 50% chance of Achondroplasia, 50% chance of normalcy

6.  Before birth: prenatal ultrasound, DNA testing  Post-Birth: If child shows hypotonia, delayed walking, obesity, abnormal skull structure or middle ear infections.  Physical symptoms: In addition to what is listed above: shortness.  Life Span: Usually normal for heterozygous. Homozygous results in death. Average life span may be 10 years less than normal.

7.  Currently there is no treatment. Human growth hormone does not work.  Currently some limb-lengthening treatments have been started. They show promise for lengthening the limbs but some cases limbs become locked to their torso.

8.  The average height for an adult with achondroplasia is about 4 feet. Considering this, those with the condition require custom made tools to make every day tasks easier. Examples are stairs and steps to reach sinks, cabinets, & drawers.  Those with the disorder tend to have crowded teeth due to an irregular skull, making oral hygiene difficult.  The irregular skull structure also leaves those with achondroplasia prone to inner ear infections due to fluid drainage.  Also, due to the short stature of carriers, obesity is prevalent.  Because obesity occurs often and there is a lack of muscle tone, it is very important for them to exercise frequently

9.  Due to the short stature of those with achondrioplasia, there are obvious limitations.  Slow motor movements are one of the indicators.  Of course, there are limits in what they can reach on shelves or counters.  There are also driving limitations, however these can easily be solved by increasing the length of the pedals  Also, since the leg bones typically become bowed, there is a limit on athletic activities that can be done.

10.  http://www.lprf.org – The Little People’s Research Fund http://www.lprf.org  http://www.lpaonline.org – Little People of America http://www.lpaonline.org  http://www.restrictedgrowth.co.uk - Restricted Growth Association http://www.restrictedgrowth.co.uk  http://www.achondroplasia.co.uk/ - Achondroplasia UK http://www.achondroplasia.co.uk/

11.  Right now there is no treatment for Achondroplasia  Though it is possible to recognize the condition before birth, there has been no development towards a cure. Surgery to extend the limbs can be performed, however this does not cure the condition and the limbs often become “locked” to the torso.  All in all, it is possible that we will find a cure, but not for some time.