Meckel-Gruber syndrome (MKS) is a lethal congenital anomaly syndrome with an autosomal dominant inheritance pattern. It is characterized by abnormal posterior fossa, large polycystic kidneys, liver developmental anomalies and, frequently, postaxial polydactily. Cystic dysplastic kidney is the most characteristic feature of MKS. Subsequent alterations in fetal kidney function usually lead to oligo- or anhydramnios (a common complication of MKS).
Pathogenic variants associated with this syndrome affect genes that encode primary cilia proteins, which play a major role during embryonic development. It shows high phenotypic variability and extremely high genetic heterogeneity.
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