Home > Encyclopedia of Genetic Disorders > Meckel-Gruber syndrome

Definition

Meckel-Gruber syndrome (MGS) is an inherited condition that causes skull abnormality, enlarged cystic kidneys, liver damage, and extra fingers and toes. Findings vary between affected infants (even in the same family), as well as between ethnic groups. Infants with MGS are usually stillborn or die shortly after birth.

Description

The first reports of MGS were published in 1822 by Johann Friedrich Meckel. G.B. Gruber also published reports of MGS patients in 1934 and gave it the name dysencephalia splanchnocystica. MGS is also known as Meckel syndrome and Gruber syndrome.

MGS affects many different organ systems including the central nervous system (brain and spinal cord), face, kidneys, liver, fingers and toes, and occasionally the bones of the arms and legs. Some...