Achondroplasia

Achondroplasia is the most common type of short limbed dwarfism. It is a disorder in bone growth. Though achondroplasia literally means " without cartilage formation," the problem is really the cartilage not forming into bone, especially in the long bones.

Achondroplasia is caused by a FGFR3 mutation. This gene provides the instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. The mutations cause the gene to be overly active. A fetal ultrasound can be done to diagnose this condition, or a physical can be performed once the child is born.

This disorder is inherited through an autosomal dominant pattern, and a parent with achondroplasia has a 50% chance of their child being born with the same disorder. However, 80% of children are born to average size adult parents because of the mutation somewhere in the family genes.

People with achondroplasia are short in stature. The average male is 4'4" and the average female is 4'1". They have an average trunk size, but short arms and legs, especially upper arms and thighs, and have limited elbow movement. They also have an enlarged head and prominent forehead, sway back and bowed legs. People with achondroplasia are prone to having breathingproblems, obesity, and ear infections.


There is no cure or way to prevent for achondroplasia.

References:
http://www.healthsystem.virginia.edu/UVAHealth/peds_diabetes/achondro.cfm
http://ghr.nlm.nih.gov/condition=achondroplasia
http://www.radpod.org/2007/03/30/achondroplasia/
www.lucinafoundation.org