Table of Contents
ACHONDROPLASIA is a genetic disorder which causes abnormal bone growth and is characterised by short stature.
1. What is Achondroplasia?
Answer: Achondroplasia is a genetic disorder which causes abnormal bone growth and is characterised by short stature.
2. What are the symptoms of Achondroplasia?
Answer: The most common symptoms associated with Achondroplasia are short stature, disproportionate limbs, a large head, and a flattened bridge of the nose.
3. How is Achondroplasia diagnosed?
Answer: Achondroplasia can be diagnosed before birth using ultrasound or after birth via genetic testing.
4. What causes Achondroplasia?
Answer: Achondroplasia is caused by a mutation in the FGFR3 gene.
5. How is Achondroplasia treated?
Answer: Treatment for Achondroplasia is focused on managing symptoms. Surgery may be used to correct some skeletal abnormalities and physical therapy can be used to improve motor skills.
6. Is Achondroplasia inherited?
Answer: Yes, Achondroplasia is inherited in an autosomal dominant pattern.
7. Is Achondroplasia life-threatening?
Answer: No, Achondroplasia is not life-threatening, but it can cause complications such as increased risk of respiratory infection and obstructed labor.
8. Who is more likely to be affected by Achondroplasia?
Answer: Achondroplasia affects both genders equally and is more common in Caucasians.
9. Are there any complications associated with Achondroplasia?
Answer: Yes, there are a number of complications associated with Achondroplasia, including respiratory infections, obstructive sleep apnea, hydrocephalus, and obstructed labor.
10. What is the life expectancy of someone with Achondroplasia?
Answer: The life expectancy of someone with Achondroplasia is the same as someone without the condition and is typically around 80 years.