Achondroplasia (Part 1)
Dwarfism Awareness Month, Day 11: Achondroplasia (Part 1).
Achondroplasia is the most common form of dwarfism and occurs in one out of 26,000 babies. It is a form of disproportionate dwarfism. It is also the form of dwarfism that I have.
(1 in 26,000 - I guess I'm pretty special).
About 80% of people with achondroplasia are born to parents of average height. The way it works is that the person with achondroplasia inherits one mutated copy of the gene associated with the disorder and one normal copy of the gene.
(Yep, that's right - I'm a mutant. That could be the reason why I'm a huge fan of the X-men).
Mutant joke aside, people with achondroplasia may pass along either a mutated or normal copy of the gene to their own children. So it is possible for a person with achondroplasia to have average sized children.
Some attributes of people with achondroplasia include:
- An average-size trunk.
---> (Yep, that's me).
- Short arms and legs, with particularly short upper arms and upper legs.
---> (Got that too).
- Short fingers, often with a wide separation between the middle and ring fingers.
---> (3 for 3 so far).
- Limited mobility at the elbows.
---> (My elbows seem fine to me).
- A disproportionately large head, with a prominent forehead and a flattened bridge of the nose.
---> (I'd like to think in my case, it is due to my large, beautiful brain).
- Progressive development of bowed legs.
---> (There are surgical procedures to fix this, which I've had done twice. Once on both legs when I was 4 years old, and again on only my right leg when I was 16 years old).
- Progressive development of swayed lower back.
---> (My back seems fine to me).
- An adult height around 4 feet/122 cm.
---> (That is my exact height. Anyone else get the feeling they're just copying my attributes? No? Okay, just me then).
Feel free to google the different types of dwarfism and achondroplasia if you're interested in learning more. Or subscribe to my blog to get notified for when I continue with part 2 on achondroplasia.
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