Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.

When this occurs, microscopic cysts develop within the kidney and slowly destroy it, causing it to enlarge up to 10 or 20 times its original size.

[citation needed] Finding at least two of the three phenotypic features of the classical triad in the presence of normal karyotype indicates a high likelihood of Meckel-Gruber Syndrome.

Most infants that are not stillborn with Meckel-Gruber syndrome die within hours to days of birth due to renal failure and lung hypoplasia.

[14] The Leicestershire Perinatal Mortality Survey for the years 1976 to 1982 had found high incidence of Meckel-Gruber syndrome in Gujarati Indian immigrants.