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Macrodactyly of fingers

Disease definition

A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.

ORPHA:295044

Classification level: Disorder
  • Synonym(s):
    • Macrodactyly of hand
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q74.0
  • ICD-11: LB97.0
  • OMIM: -
  • UMLS: C0574044
  • MeSH: C537720
  • GARD: 8529
  • MedDRA: -
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