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Angel-shaped phalango-epiphyseal dysplasia

ORPHA:63442 · Malformation syndrome · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(4)

  • Abnormal epiphysis morphologyHP:0005930
  • Short 1st metacarpalHP:0010034
  • Short middle phalanx of fingerHP:0005819
  • Short middle phalanx of the 5th fingerHP:0004220

Frequent (79-30%)(5)

  • Delayed eruption of teethHP:0000684
  • Hip dysplasiaHP:0001385
  • Hip osteoarthritisHP:0008843
  • HypodontiaHP:0000668
  • Short statureHP:0004322

Occasional (29-5%)(2)

  • Delayed skeletal maturationHP:0002750
  • Joint hypermobilityHP:0001382