Subluxated lens, thin elongated, hyperextensible extremities and aortic aneurysm are the characteristic clinical features of
**Core Concept**
Marfan syndrome is a genetic disorder affecting the body's connective tissue, leading to various systemic manifestations including ocular, skeletal, and cardiovascular abnormalities.
**Why the Correct Answer is Right**
Marfan syndrome is characterized by a mutation in the FBN1 gene, resulting in the production of defective fibrillin-1 protein. This leads to the disruption of elastic fibers in the lens capsule, causing lens subluxation. The condition also affects the musculoskeletal system, causing thin, elongated, and hyperextensible extremities due to the overgrowth of collagen. Additionally, the cardiovascular system is affected, increasing the risk of aortic aneurysm and dissection.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect as it does not match the characteristic features of Marfan syndrome. The features mentioned do not align with the clinical presentation of this condition.
**Option B:** This option is incorrect as it refers to a different genetic disorder, Ehlers-Danlos syndrome, which affects collagen production and leads to skin hyperextensibility, joint hypermobility, and tissue fragility.
**Option C:** This option is incorrect as it refers to a different condition, homocystinuria, which affects the metabolism of amino acids and can lead to lens dislocation, skeletal abnormalities, and cardiovascular issues, but does not match the exact features mentioned.
**Clinical Pearl / High-Yield Fact**
Marfan syndrome is often associated with tall stature, long limbs, and arachnodactyly, making it a classic example of a condition that can be diagnosed based on physical examination.
**Correct Answer: C. Homocystinuria**