Achondroplasia

By: Nathan Jay

What is it and who is affected by it

A hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face that is small in relation to the (normal-sized) skull.

1 in 15,000 to 40,000 newborns are affected with this desiece.

Symptoms, daily life, and life expectancy

1. A short neck

2. Short fingers

3. Shortened arms and legs

4. Broad rounded chest

5. Limited mobility at the elbows

Cost a lot of money for stuff to be customized to your condition.

Normal life expectancy

Causes

FGFR3 is the only gene associated with Achondroplasia.

Chromosome #4 is affected by Achondroplasia.

Fibroblasts growth factor receptor 3.

Treatments

1. Stabilizing and correcting the shape at the spine.

2. Placing a stunt to to remove excess fluid around the brain.

3. Increase the size of the opening in bones of the spine to alleviate pressure of the spinal cord.

No specific cures to help.

Other Facts

Achondropasia which means " without cartilage formation" is a Greek word.