noun
- a genetic disorder characterized by abnormal bone growth that results in short stature and disproportionate limbs, caused by a mutation affecting cartilage development
Usage: medical term; most common form of dwarfism in humans
Examples
- Achondroplasia is an autosomal dominant condition, meaning only one copy of the mutated gene is needed to cause the disorder.
- People with achondroplasia typically have average intelligence but shorter limbs relative to their torso.
- The diagnosis of achondroplasia can often be confirmed through genetic testing.
- Achondroplasia affects approximately 1 in 25,000 births worldwide.
- Individuals with achondroplasia may face certain health challenges, including sleep apnea and spinal stenosis.