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Oligodontia-cancer predisposition syndrome

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Description

Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

1,203

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Genes

External Links

  • OMIM

    608615

  • Orphanet

    300576

  • HPO
  • Medgen

    C1837750

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