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Presented by: Britt Shields and Connor Nash. Achondroplasia. Overview. 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. Medical Research.
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Presented by: Britt Shields and Connor Nash Achondroplasia
Overview • 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
Medical Research • 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.
Heterozygous vs. Heterozygous A a 25% chance of death, 50% chance of Achondroplasia, 25% chance of normalcy a a A a
Homo vs. Heterozygous A a 50% chance of Achondroplasia, 50% chance of normalcy a a
Diagnosis and Symptoms • 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.
Treatment • 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.
Everyday Life • 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
Limitations • 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.
Helpful Organizations • http://www.lprf.org – The Little People’s Research Fund • http://www.lpaonline.org – Little People of America • http://www.restrictedgrowth.co.uk - Restricted Growth Association • http://www.achondroplasia.co.uk/ - Achondroplasia UK
Possibilities of a Cure • 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.
