← 返回搜尋

Melorheostosis

ORPHA:2485 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(12)

  • Abnormality of the skeletal systemHP:0000924
  • ArthralgiaHP:0002829
  • Bone painHP:0002653
  • Cranial nerve paralysisHP:0006824
  • Ectopic ossification in muscle tissueHP:0011987
  • Failure to thriveHP:0001508
  • HyperostosisHP:0100774
  • Increased bone mineral densityHP:0011001
  • Joint stiffnessHP:0001387
  • LymphedemaHP:0001004
  • Skeletal dysplasiaHP:0002652
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(2)

  • Lower limb asymmetryHP:0100559
  • Upper limb asymmetryHP:0100560

Occasional (29-5%)(3)

  • ArthritisHP:0001369
  • Atypical scarring of skinHP:0000987
  • Peripheral arteriovenous fistulaHP:0100784