Meckel syndrome

Meckel's Syndrome (FMD) describes a severe, multivisceral malformation syndrome that is usually lethal in the first few days of life, the main characteristics of which are renal cysts in combination with CNS development, liver pain, bile duct dysplasia and polydactyly.

Polydactyly is postaxial in most cases. Other possible anomalies include malformations of the heart and genitals, cleft palate, atresia of the ureter, microphthalmia and anophthalmia. In many cases, the long bones of the limbs are bent.

An accumulation of the disease was noted in Finland, where the prevalence in about 1/9000 newborns.

Inheritance is autosomal recessive and genetically heterogeneous. The gene loci are 17q in MKS1, 11q on MKS2 and 8q on MKS3.