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Palmoplantar keratoderma-deafness syndrome

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Description

Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.\n\nThe signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.

MedlinePlus Genetics

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

28

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Genes

External Links

  • OMIM

    148350

  • Orphanet

    2202

  • HPO
  • Medgen

    C1835672

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