Hypochondroplasia kid: Christmas 2010

What is hypochondroplasia?

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).

People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results.

Tuesday, December 28, 2010

Christmas 2010

2 comments:

erin923December 29, 2010 at 7:46 AM
Hi Kristen. I would love to chat with you about your early experiences with Coleman and his doctor visits and such. I'm still somewhat confused as to what our next steps should be or what our options are. Maybe we could chat through email or facebook?
Thanks
Ern
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erin923January 3, 2011 at 6:44 PM
Well, although I have been much smaller than everyone around me all my life, everything else about me is "normal" I have never had any aches/pains and I don't have swayback. I am 4'10 and can do just about anything that everyone else can do. As a child I was diagnosed with "short stature", but now am questioning that. I haven't been tested yet, but I will be going in for a skeletal survey soon to determine if I have the characteristics of hypochondroplasia, and then we go from there with the DNA test to look at the specific genes. Your son Coleman is adorable. I'm doing as much research as possible before Adam's next appointments in March and April. I am hoping for the possibility of GH as well, but still need to do more research and speak more with his doctors. When did Coleman begin GH and how long will he be on them? Thanks for all your help!
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