Meckel-Gruber syndrome [20 genes]

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 polydactyly. The 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.

Incidence: 1/135,000

Identifying genetic variants causing Meckel-Gruber syndrome allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when there is suspicion of Meckel Gruber syndrome that includes the following clinical characteristics:

• Posterior fossa anomalies
• Kidney cysts
• Defects in liver development, with fibrosis and cysts
• Postaxial polydactyly in both hands and feet