← 返回搜尋

Multicentric carpo-tarsal osteolysis with or without nephropathy

ORPHA:2774 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(14)

  • Abnormality of the wristHP:0003019
  • CachexiaHP:0004326
  • Carpal osteolysisHP:0001495
  • EMG abnormalityHP:0003457
  • Gait disturbanceHP:0001288
  • Limitation of joint mobilityHP:0001376
  • Metacarpal osteolysisHP:0001504
  • MicrognathiaHP:0000347
  • OsteolysisHP:0002797
  • ProptosisHP:0000520
  • ProteinuriaHP:0000093
  • Slender long boneHP:0003100
  • Triangular faceHP:0000325
  • Wrist swellingHP:0001225

Frequent (79-30%)(2)

  • Camptodactyly of fingerHP:0100490
  • NephropathyHP:0000112

Occasional (29-5%)(5)

  • Abnormal epiphysis morphologyHP:0005930
  • Downturned corners of mouthHP:0002714
  • PolyhydramniosHP:0001561
  • TelecanthusHP:0000506
  • Wide nasal bridgeHP:0000431