Which disease leads to tall and thin individuals with various systemic abnormalities?

• A. Aniridia
• B. Marfan Syndrome
• C. Cystic Fibrosis
• D. Sickle Cell Disease

Answer: (B)

Marfan Syndrome is a connective tissue disorder that results from mutations in the FBN1 gene, which encodes the protein fibrillin-1. This disorder is characterized by a range of features, including tall stature and long limbs, often leading to a tall and thin appearance in affected individuals. In addition to skeletal manifestations, Marfan Syndrome can also affect several organ systems, presenting various systemic abnormalities.

Individuals with this syndrome may experience cardiovascular issues, such as aortic dilation or rupture, and eye problems, including lens dislocation. Other characteristics can include long fingers (arachnodactyly), a curved spine (scoliosis), and chest wall deformities (pectus excavatum or pectus carinatum). The systemic involvement and the characteristic body habitus make Marfan Syndrome a distinct disorder in genetic pathology.

The other conditions listed do not typically present with the tall and thin phenotype associated with Marfan Syndrome. Aniridia primarily affects the eyes, cystic fibrosis is a disorder that primarily impacts the lungs and digestive system, and sickle cell disease is characterized by issues related to blood cells and does not correlate with the specific physical traits described.