Meckel-Gruber syndrome

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English

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Etymology

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Named after Johann Meckel and Georg Gruber.

Noun

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Meckel-Gruber syndrome (uncountable)

  1. A rare, lethal ciliopathic genetic disorder characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.
    Synonym: dysencephalia splanchnocystica
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