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Fibrodysplasia ossificans progressiva

ORPHA:337 · Disease · Disorder

HPO 表現型（共 35 項）

Obligate (100%)(1)

  • Ectopic ossificationHP:0011986

Very frequent (99-80%)(11)

  • Abnormal hallux morphologyHP:0001844
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the first metatarsal boneHP:0010054
  • Ectopic ossification in ligament tissueHP:0011989
  • Ectopic ossification in muscle tissueHP:0011987
  • Fused cervical vertebraeHP:0002949
  • Limitation of joint mobilityHP:0001376
  • OsteochondromaHP:0030431
  • Short halluxHP:0010109
  • Spinal rigidityHP:0003306
  • Subcutaneous noduleHP:0001482

Frequent (79-30%)(11)

  • Abnormal femoral neck morphologyHP:0003367
  • Abnormal thumb morphologyHP:0001172
  • AlopeciaHP:0001596
  • Aplasia/Hypoplasia of the phalanges of the halluxHP:0010058
  • ClinodactylyHP:0030084
  • Hearing impairmentHP:0000365
  • Hip dysplasiaHP:0001385
  • Hip painHP:0030838
  • Increased susceptibility to fracturesHP:0002659
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650

Occasional (29-5%)(7)

  • Deep venous thrombosisHP:0002625
  • EnchondromaHP:0030038
  • Failure to thriveHP:0001508
  • Hallux valgusHP:0001822
  • Kidney stoneHP:0000787
  • LymphedemaHP:0001004
  • Synostosis of jointsHP:0100240

Very rare (<4-1%)(5)

  • AnemiaHP:0001903
  • Delayed skeletal maturationHP:0002750
  • GlaucomaHP:0000501
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250