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Multinodular goiter-cystic kidney-polydactyly syndrome
Disease definition
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.
ORPHA:2091
Classification level: DisorderSummary
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.
Additional information
Further information on this disease
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