Which genetic condition is characterized by symptoms including being tall and having a weak heart?

Study for the Medical Terminology for Health Professions Test with our comprehensive quiz. Featuring flashcards and multiple choice questions, each accompanied by hints and in-depth explanations. Prepare effectively and boost your chances of success!

The chosen answer, Marfan Syndrome, is associated with a set of characteristics that include being tall, having long limbs, and cardiovascular problems such as a weak heart. This connective tissue disorder affects various systems in the body, leading to distinctive physical features and complications. Individuals with Marfan Syndrome often exhibit hypermobility of joints and may have problems with their aorta, making heart issues common.

Marfan Syndrome is caused by a mutation in the FBN1 gene, which encodes for fibrillin-1, a protein that is essential for the structure of connective tissue. The impact of this condition on connective tissue results in the tall stature and other symptoms.

In contrast, Muscular Dystrophy is a group of inherited disorders that cause progressive muscle weakness and loss of muscle mass without the particular features associated with Marfan Syndrome. Phenylketonuria (PKU) is a metabolic condition affecting the body’s ability to process phenylalanine, leading to neurological complications if untreated, rather than a combination of height and cardiovascular issues. Adipose Tissue refers to body fat and is not a genetic condition affecting height or heart strength. Thus, Marfan Syndrome is the only option that matches the symptoms described.

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