Meckel Gruber syndrome is a rare lethal hereditary disorder with an autosomal recessive inheritance.

The disorder is characterized by a triad of bilateral polycystic kidneys, encephalocele and postaxial polydactyly. The disorder can be associated with many other features like cleft lip/palate, ventricular septal defects, single vessel cord. Antenatal ultrasound can establish the diagnosis by identifying at least two major features.

Trisomy 13 shows several similar sonographic features and must be excluded by karyotyping.

The recurrence rate is about 25%, so the parents should be adequately counseled regarding subsequent pregnancies.