Achondroplastic Dwarfism By: Keyon Harrison

What is Achondroplastic Dwarfism? Is a genetic disorder of bone growth, and is the most common cause of disproportionately short limbs (arms and legs). Achondroplasia is inherited as a autosomal dominant trait affecting boys and girls equally. Most cases of this disease are due to unusual mutations in the genes.

What are the causes of Achondroplastic Dwarfism? Cause 1: genetic mutation of the fibroblast growth factor. Cause 2: Inherited from a parent with the condition.

What happens??? Achondroplasia is caused by mutations in the FGFR3 gene. Two specific mutations account for approximately 99% of Achondroplasia. The FGFR gene is comprised of 2,520 bases. In a normal (non-mutated) gene, base number 1138 is guanine (G). In most individuals with achondroplasia (98%), this guanine (G) has been replaced with adenine (A). In a small number of individuals with achondroplasia (1%), this guanine (G) has been replaced with cytosine (C). Both of these small substitutions cause a change in the fibroblast growth factor receptor (FGFR) that affects the function of this receptor.

Achondroplastic Dwarfism

What are the symptoms? Formation of a short stature An Average size trunk Short arms and legs with particularly short upper arms and thighs. An Enlarged Head. Fingers are typically short.

Health Problems? Breathing disorders. (apnea) Obesity Recurrent ear infections (otitis media) Crowded or misaligned teeth Small back bones Flat feet A trident hand Loose joints Poor muscle tones

Diagnosis? The diagnosis can be based on physical features which are mostly evident at birth. Diagnosed through other imaging techniques……. Also Diagnosed before birth which is accomplished by examining cells.

Treatment?? There are no treatments that will fully cure Achondroplastic Dwarfism. There are treatments that can help with symptoms and complications that may come with the disease.

PREVENTION

Interesting facts!! About 80% of cases on Achondroplastic Dwarfism are not inherited. Most Achondroplastic Dwarfs have leg problems and may even lose function in. A person with Achondroplasia have a 50% chance of passing the gene on to a child. Fathers that are older than 45 have a higher chance of having children that inherit the condition. Was discovered in 1994.

Little People big world!

Work Cited University of Virginia, "Diabetes & Other Endocrine and Metabolic Disorders ." Health topics. February 2004. 30 Jul 2007 <http://www.healthsystem.virginia.edu/uvahealth/peds_diabetes/achondro.cfm>. Emed TV, "Cause of Achondroplasia." Achondroplasia. November 7 2006. 31 Jul 2007 <http://bones.emedtv.com/achondroplasia/cause-of-achondroplasia.html>.