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Congenital macrodactylia

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Description

Macrodactyly is a congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth in affected digits with resultant loss of function. Macrodactyly affects a 'nerve territory,' and the individual peripheral nerve is both enlarged and elongated (summary by Rios et al., 2013).

OMIM

  • Mode of Inheritance

  • Somatic mutation

VARIANTS

4

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Genes

External Links

  • OMIM

    155500

  • Orphanet
  • HPO

    2925

  • Medgen

    C0265552

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