Which genetic disorder is characterized by impaired bone growth?

Which genetic disorder is characterized by impaired bone growth?

• A. Muscular dystrophy
• B. Huntington's disease
• C. Achondroplasia
• D. Cystic fibrosis

Answer: (C)

Achondroplasia is a genetic disorder characterized by impaired bone growth, particularly affecting the growth of long bones. It is a form of skeletal dysplasia caused by a mutation in the FGFR3 gene, which regulates bone growth and regulates the growth plate in bones. This condition leads to a specific phenotype, including shortened limbs, an average-sized trunk, and a larger head. Individuals with achondroplasia typically have normal intelligence, and their health can be good, although there may be some associated complications related to their skeletal structure. Understanding this condition highlights the importance of specific genetic mutations and their roles in development, particularly in relation to bone growth. In contrast, the other disorders listed do not primarily affect bone growth. For instance, muscular dystrophy involves progressive muscle degeneration, Huntington's disease is a neurodegenerative disorder that affects movement and cognitive function, and cystic fibrosis primarily impacts the lungs and digestive system due to a defect in the CFTR gene. Each of these conditions has distinct symptoms and underlying genetic mechanisms that set them apart from achondroplasia.

Achondroplasia is a genetic disorder characterized by impaired bone growth, particularly affecting the growth of long bones. It is a form of skeletal dysplasia caused by a mutation in the FGFR3 gene, which regulates bone growth and regulates the growth plate in bones. This condition leads to a specific phenotype, including shortened limbs, an average-sized trunk, and a larger head. Individuals with achondroplasia typically have normal intelligence, and their health can be good, although there may be some associated complications related to their skeletal structure.

Understanding this condition highlights the importance of specific genetic mutations and their roles in development, particularly in relation to bone growth. In contrast, the other disorders listed do not primarily affect bone growth. For instance, muscular dystrophy involves progressive muscle degeneration, Huntington's disease is a neurodegenerative disorder that affects movement and cognitive function, and cystic fibrosis primarily impacts the lungs and digestive system due to a defect in the CFTR gene. Each of these conditions has distinct symptoms and underlying genetic mechanisms that set them apart from achondroplasia.