Question

Which is a description of achondroplasia?

1) enlargement of extremities
2) defective cartilage formation that affects bone growth
3) tumor of the sella turcica
4) abnormal formation of cartilage in an adult
5) hyperfunctioning of pituitary gland

Answer 1

Achondroplasia is a disorder characterized by abnormal formation of cartilage in an adult, resulting in short stature. It is caused by a mutation in the FGFR3 gene and is inherited in an autosomal dominant manner. Individuals with achondroplasia have normal trunk size but shortened limbs and a larger head.

Step-by-step explanation:

Achondroplasia is a disorder characterized by abnormal formation of cartilage in an adult. It is caused by a mutation in the FGFR3 gene, which affects bone growth and leads to short stature. This condition is the most common form of dwarfism and is typically inherited in an autosomal dominant manner. Individuals with achondroplasia have normal trunk size but shortened limbs and a larger head compared to average height individuals.