Achondroplasty (Noun)
Meaning
An inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism.
Classification
Nouns denoting natural processes.
Examples
- Achondroplasty is the most common cause of short-limbed dwarfism, accounting for about 70% of all cases.
- The diagnosis of achondroplasty is typically made before birth through prenatal ultrasound or shortly after birth through physical examination and imaging studies.
- Children with achondroplasty often experience delayed motor skills development, such as sitting, standing, and walking, due to their skeletal abnormalities.
- Achondroplasty is usually inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition.
- Surgery may be necessary to treat complications of achondroplasty, such as spinal stenosis or bowed legs, but it cannot cure the underlying condition.