Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome

Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.

Epidemiology

It has been described in two sibs and one unrelated child.

Clinical description

The two sibs had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families.

Genetic counseling

This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance.