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Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

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Description

A rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have also been observed.

SNOMEDCT_US

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

4

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Genes

External Links

  • OMIM

    616029

  • Orphanet

    423454

  • HPO
  • Medgen

    C4014987

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