Which syndrome is commonly associated with omphalocele?

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!

Omphalocele, a congenital defect in which the abdominal contents protrude through the umbilical cord, is most commonly associated with Miller-Dieker Syndrome. This syndrome is caused by a deletion of a portion of chromosome 17, specifically involving the genes responsible for brain development, and it presents with significant neurological and physical features, including lissencephaly.

The association between omphalocele and Miller-Dieker Syndrome is particularly notable because the serous body wall defects, including omphalocele, are part of the phenotypic spectrum sometimes seen with this chromosomal abnormality. Children with Miller-Dieker Syndrome often have multiple congenital anomalies, and the presence of omphalocele further signifies the complexity and severity of the condition.

While other syndromes listed may have varying associations with different congenital anomalies, they are not prominently linked with omphalocele in the same consistent manner as Miller-Dieker Syndrome. Each of these conditions presents with its unique set of congenital anomalies, but the prevalence of omphalocele specifically is higher in the context of Miller-Dieker.

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