Question
Question: Achondroplasia is a disease-related to the defect in formation of A. Mucosa B. Cartilage C. Me...
Achondroplasia is a disease-related to the defect in formation of
A. Mucosa
B. Cartilage
C. Membrane of joint
D. Bone
Solution
Achondroplasia is a genetic disorder wherein this disease, the people have dwarfism, and the length of the arms, and legs are short but the trunk of the body is normal in length, so that people that are affected by the achondroplasia may have an average height of 4 feet in both males and females.
Complete answer: Achondroplasia is caused by the mutation of a gene called fibroblast growth factor receptor 3.
Because of this, there is an interruption with the interaction of proteins and growth factors, as fibroblast growth factors are mainly responsible for making the proteins and these proteins contribute to the production of collagen and other structural components in bones and tissues.
Because of this reason, in these people cartilage is not able to develop fully into the bone, causing the disproportionate height in an individual.
The mutated fibroblast growth factor is continuously active which leads to severely short end bones.
Achondroplasia can be inherited through autosomal disorder, where 50% is passing from the parents to offspring.
People with Achondroplasia also have shortening of limbs and they have short, fingers, toes, etc.
In these people, there is a large head with a prominent forehead, with frontal bossing.
They have a small midface with a flattened nasal bridge, and they also have Spinal Kyphosis.
And people with Achondroplasia may have frequent ear infections, and they also have sleep apnea.
There is no cure for Achondroplasia, but they can be treated with growth hormones to certain extent and they can also be treated with some surgeries to increase the length of the hand and legs.
So the correct option is B.
Note: In some people there might be a chance of mutations, if there is a mutation in the fibroblast growth factor, it may interrupt the proteins and receptor interactions which prevent the maturation of Cartilage, so it further prevents the conversion of cartilage to bone.