What is it?

Achrondroplasia, commonly known as dwarfism, is a condition where a person is disproportionally small in stature due

to a failure in growth hormone production. 

Is it inherited?

Yes, it is an inherited mutation in the 4th chromosome. 

Achrondroplasia is an autosomal dominant disorder, meaning that it only takes on affected parent to pass the disease onto the offspring.

What are some characteristics of it?

• relatively long, narrow torso
• short arms and legs
• disproportionate shortening of the proximal segments of the limbs- the upper arms and thighs
• Large head with prominance of the forehead
• underdevelopment of midface
• low bridge and narrow nasal passages
• short fingers and ring and middle finger diverge
• joints can be extended more than normal
• elbows' movement is limited
• babies have small hump in mid-to-lower back- goes away when learns to walk
• pronounced sway of lower back when walking
• decrease in muscle tone
• enlargment of brain- but does not affect intelligence

Is there any help offered?

Unfortunatly there is nothing that can be done that will help the individual to grow. Fortunatly, though, the individual can still live a normal life, just having to take longer on things that are more easy for normal humans. They do, howver, need to meet with a physician so they can monitor the growth of the body and the circumference of the head. Knowledgeable pediatric care and periodic orthopedic and neurologic examinations are critical. If there is anything unusual, prompt and expert intervention is important.

Scientist are, however, experimenting with growth hormones! 

Can it be diagnosed before birth?

To some extent it can. With the help of ultrasounds,radiology, and other image techniques doctors can see characteristic features of dwarfism. You can also examine cells obtained by chorionic villus sampling (CVS) or amniocentesis to diagonsis it before birth.

What is the average lifespan?

This disease causes some deformity. However, with careful attention paid to the individual, they can live a normal life in good health.

How can you help?

You can help by donating to Elizabeth A. Herrmann Foundation. We would like to raise around $750,000 that would go to helping scientist experiment with possible cures! If you would like to donate please call 1-750-392-7347 or email us at littlepeople@EAHF.org.  Thank you.