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Palmoplantar keratoderma-deafness syndrome

Disease definition

Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma (see these terms). A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans (see these terms) may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.

ORPHA:2202

  • Synonym(s):
    • PPK-deafness syndrome
    • Palmoplantar hyperkeratosis-deafness syndrome
    • Palmoplantar hyperkeratosis-hearing loss syndrome
    • Palmoplantar keratoderma-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Mitochondrial inheritance 
  • Age of onset: Childhood
  • ICD-10: Q82.8
  • OMIM: 148350
  • UMLS: C1835672
  • MeSH: C536152
  • GARD: 3094
  • MedDRA: -

Additional information

Further information on this disease

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