What does Amelia refer to in genetic disorders?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

Amelia refers to the complete absence of one or more limbs in an individual, which is a significant and distinctive characteristic of certain genetic disorders. This condition can result from various genetic, environmental, or teratogenic factors that affect limb development during embryogenesis. When discussing genetic conditions, particularly those associated with limb malformations, the term "Amelia" specifically denotes the absence rather than any reduction in limb length or other variations in limb appearance.

Options like the absence of short hands and feet or shortened long bones address different malformations and conditions that are not encompassed by Amelia. The mention of a broad or duplicated big toe pertains to another type of limb or digit anomaly, which also does not relate directly to the definition of Amelia. Therefore, the correct understanding of Amelia focuses specifically on the total absence of limbs, which aligns it with the chosen answer.

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