Which condition involves dysfunction of primary cilia in early embryogenesis?

Study for the Maternal-Fetal Medicine (MFM) Qualifying Exam. Explore comprehensive flashcards and detailed multiple-choice questions, each with hints and explanations to prepare effectively. Achieve success with confidence!

Meckel-Gruber Syndrome is indeed the condition associated with dysfunction of primary cilia during early embryonic development. Primary cilia are important sensory organelles found on almost all cell types, and they play a crucial role in various signaling pathways during organ development. When primary cilia are dysfunctional or absent, it can lead to abnormal cellular signaling that disrupts normal embryogenesis.

In the case of Meckel-Gruber Syndrome, this genetic disorder is characterized by a triad of features: cystic kidneys, central nervous system anomalies (such as encephalocele), and polydactyly. The ciliary dysfunction seen in this syndrome affects the development of multiple organ systems, resulting in the characteristic malformations.

The other conditions listed do not primarily involve ciliary dysfunction. While they may have their own unique developmental issues, they do not share the same pathway involving the dysfunction of primary cilia as a central defect in their embryogenesis. This distinction helps reinforce the specific role of cilia in Meckel-Gruber Syndrome.

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