Saturday, March 8, 2008

Achondroplasia: The Facts

Achondroplasia (ā-kŏn'drō-plā'zhə) is the most common form of dwarfism occurring in 1 in 26,000 births and is characterized by short stature. It is a bone growth disorder affecting the long bone growth in the arms and leg. Achondroplastic dwarfs tend to have shorter limbs, a larger head and average sized “trunks” or torsos. Achondroplasia accounts for about 70% of cases, but there are over 200 diagnosed types of dwarfism.

Achondroplasia is a genetic disorder that was determined at conception. It is not a recessive gene which means that neither Dan nor I carry it. Owen however, does carry the gene and has a chance of passing it on to his children. If he marries a woman with the same condition, he has a 50% chance of having an baby with achondroplasia, a 25% chance of having and average height (AH) baby, and a 25% chance of having a child that will inherit the gene from both parents, and will most likely die. About 80% of people with achondroplasia have average height parents.

Medical issues can range from mild to severe. Achondroplastic dwarfs have a narrowing of the foramen magnum, the opening that allows fluid to drain from the head to the spine. If the opening is too small, it could lead to build up of fluid or hydrocephalus. Kyphosis, or rounding of the back, is another common problem especially in children. Often though, kyphosis is corrected as a child begins to strengthen muscle tone. We will have to watch for bowed legs and joint problems. In severe cases, if left untreated, spinal complications could lead to paralysis. Generally however, life expectancy and intelligence are normal and dwarfs can lead full, healthy lives. The average height of people with achondroplasia is 4 feet but will vary just as average height people vary.

Many individuals with dwarfism choose to join an organization called Little People of America. LPA is a non-profit that offers support to individuals with dwarfism and their families. There are local and regional meetings and every year hold a National Convention where people from across the country come to hang out, see friends, and take part in medical and informative workshops. This year’s National Convention is being held in Detroit, Michigan June 20th – 27th.

The term “midget” was at one time used to describe proportional dwarfism. Today, however, the word is considered offensive and should not be used to describe a person with dwarfism. Little person, LP or dwarf are acceptable terms but the best thing is to call someone by their name.

*Much of this information came from the LPA Website

11 comments:

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Holly said...

I liked your web site. My 4 year old daughter also has achondroplasia and will start preschool this year. The best thing is to educate people. We belong to the LPA which is a great organization with wonderful people. We have learned so much and have had a lot of support along the way. I don’t want people to be afraid to ask questions, we did not know anything about Little People until we were blessed with our daughter. She is little, but she has the biggest smile and is just as brave and tough as the average 4year old. God Bless.

Hardy joysan said...

"Here is an additional resource about the genetics of Achondroplasia: http://www.accessdna.com/condition/Achondroplasia/15. I hope it helps. Thanks, AccessDNA"

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Anonymous said...

you writing this stuff is so emotional, and i really wish your family well!!

brenda said...

thx for sharing with us. it hepled me with my biology project. hope everything is great!!

Anonymous said...

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