Miller-Dieker Syndrome is characterized by which of the following?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

Miller-Dieker Syndrome is primarily characterized by lissencephaly, which is a condition where the brain demonstrates a smooth appearance due to a lack of normal gyri and sulci development. This is a key feature of the syndrome as it directly impacts neurological function and development. The absence of these folds leads to significant cognitive and motor challenges, which are crucial aspects of the syndrome.

While the syndrome may also present with other phenotypic features such as distinct facial characteristics, coloboma (an eye defect), or orthopedic issues like high-arched feet, these are not defining features. Lissencephaly is the most prominent and direct manifestation specific to Miller-Dieker Syndrome, which due to its severity and implications, is often the focus in discussions about the condition.

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