Achondroplasia

Our Cooper has Achondroplasia [ey-kon-druh-pley-zhuh] which is a form of skeletal dysplasia or “dwarfism”. Although there are approximately 200 known types of dwarfism, Achondroplasia is the most common. Achondroplasia is often abbreviated as just “Achon”. People with Achon have shorter “long” bones (femur and humerus), resulting in a shorter stature. The average height for adults with Achondroplasia is around 4 feet.

Achondroplasia is caused by a genetic mutation of the fibroblast growth factor receptor 3 (FGFR3). It occurs in 1 in every 26,000 live births. Individuals with a skeletal dysplasia can pass the gene on to their children. When a LP(little person) has a child, they will pass on both a dwarfism gene and an AH (average height) gene. Children with parents who both have a skeletal dysplasia will have a 50% chance of being little, 25% of being average height, and a 25% chance of inheriting both dwarfism genes- which is called Double Dominance. Unfortunately, double dominance is fatal and the baby will not survive after long after birth.

Referring to individuals with skeletal dysplasia as a little person, LP, and person of short stature are all acceptable, but most people would rather be referred to just by their name.

Please visit www.lpaonline.org for more information on dwarfism and Achondroplasia.

Please help us spread awareness and knowledge!

Thank you!

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5 thoughts on “Achondroplasia

  1. Ok instead of liking and commenting on all of the posts I’ll spare you!! You did an AMAZING job with your blog and I look forward to watching Cooper grow alongside Bowe! Hopefully one day we will get to me!et!!

    Like

    • Thank you!! I really appreciate it! Yours looks awesome as well! I really hope we get to meet you and your family as well! Coop and Bowe can be close friends when they’re older! They may be the closest kids in age with achon. Love those cute boys! Thanks for all your help and advise!

      Liked by 1 person

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