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.
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