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Proteus syndrome

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Description

Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals Proteus syndrome has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.

GeneReviews

  • Mode of Inheritance

  • Somatic mutation
  • Sporadic

VARIANTS

1

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Genes

External Links

  • OMIM

    176920

  • Orphanet

    744

  • HPO
  • Medgen

    C0085261

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