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Maffucci syndrome

ORPHA:163634 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(4)

  • HemangiomatosisHP:0007461
  • Multiple enchondromatosisHP:0005701
  • OsteolysisHP:0002797
  • Venous thrombosisHP:0004936

Frequent (79-30%)(5)

  • Bone painHP:0002653
  • ExostosesHP:0100777
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Subcutaneous noduleHP:0001482

Occasional (29-5%)(15)

  • AstrocytomaHP:0009592
  • Breast carcinomaHP:0003002
  • Cerebral palsyHP:0100021
  • ChondrosarcomaHP:0006765
  • Cranial nerve paralysisHP:0006824
  • DysphagiaHP:0002015
  • GoiterHP:0000853
  • Growth delayHP:0001510
  • Neoplasm of the adrenal cortexHP:0100641
  • Neoplasm of the parathyroid glandHP:0100733
  • Ovarian neoplasmHP:0100615
  • Parathyroid adenomaHP:0002897
  • Pituitary adenomaHP:0002893
  • Recurrent fracturesHP:0002757
  • SarcomaHP:0100242