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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2091
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.
It has been described in two sibs and one unrelated child.
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.
This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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