Achondroplasia

Autosomal dominant inheritance of a mutated FGFR3 gene on chromosome 4 ("p" arm)
 * Root Cause of Disease:**



Interferes with skeletal development of embryo, overexcited gene doesn't allow for cellular differentiation and therefore bone formation.
 * Affected cell types/tissues/organs/systems:**

1878 - Jules Parott uses term "achondroplasia" to describe adults and children with significantly lower stature 1900- Pierre Marie investigates physical and intellectual features of patients with disease Archaeological evidence of recognition of condition in ancient Egyptian, Greek, and Roman civilizations
 * Historical Background:**

Dwarfism, physical deformities Average male height: 4'4" Average female height: 4'1" Bowed leg Lordosis of lower back Kyphosis of spine Large skull (macrocephaly) Enlarged brain (megalocephaly)
 * Common Symptoms:**

No cure Early detection in babies using Ultrosonography Little People of America - advocate for disease, provide social services
 * Standard Treatments:**

Research is being done into early detection systems, as well as providing mechanisms for fixing damaged DNA (Reference 2)
 * Current Research:**

1.) http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/80/viewFullReport
 * References:**

2.) http://upload.wikimedia.org/wikipedia/en/b/b7/LPA_logo_small_new.png

3.) http://www.news-medical.net/health/What-is-Chromosome-4.aspx

4.) http://medicalpicturesinfo.com/achondroplasia/

5.) http://peterswordoftheday.wordpress.com/tag/achondroplasia/

6.) http://ghr.nlm.nih.gov/condition/achondroplasia

7.) http://ghr.nlm.nih.gov/gene/FGFR3

8.) []