What condition is characterized by conditions of polydactyly and occipital encephalocele?

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Meckel-Gruber Syndrome is characterized by a combination of anomalies, including polydactyly (extra fingers or toes) and occipital encephalocele (a defect in the skull where the brain protrudes through the opening at the back of the head). This autosomal recessive condition typically presents with a triad of features: cystic kidneys, polydactyly, and central nervous system malformations such as encephalocele.

The significance of Meckel-Gruber Syndrome lies in its implications for prenatal diagnosis and genetic counseling, as families with a history of the disorder often need to understand the potential risk for recurrence in future pregnancies. The presence of polydactyly, specifically, is a notable characteristic that helps in the clinical identification of the syndrome.

Other conditions listed may share some features with Meckel-Gruber Syndrome, but they do not typically present both polydactyly and occipital encephalocele in their classic manifestations. This highlights the unique aspect of Meckel-Gruber Syndrome and its distinct clinical profile among the options provided.

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