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

Chromosome 4.png

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

Historical Background:
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

Common Symptoms:
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)

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

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

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

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.) https://www.medlink.com/medlinkcontent.asp