Achondroplasia: A Genetic Disorder
Achondroplasia is a genetic disorder that affects bone growth, resulting in disproportionately short limbs. It is the most common form of dwarfism, characterized by normal-sized torso and head, but shorter arms and legs.
Key Features of Achondroplasia:
- Short stature: Individuals with achondroplasia have significantly shorter limbs than their torso.
- Disproportionate body: The head is often larger than normal, and the trunk is relatively long compared to the limbs.
- Bowed legs: The legs may be bowed or curved.
- Limited range of motion: The joints may be stiff, limiting flexibility.
- Normal intelligence: People with achondroplasia typically have normal intelligence.
Causes:
- Achondroplasia is caused by a mutation in the FGFR3 gene. This gene provides instructions for making a protein involved in bone growth.
- The mutation can occur spontaneously or be inherited from a parent.