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Larsen-like osseous dysplasia-short stature syndrome

ORPHA:2370 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(11)

  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal vertebral body morphologyHP:0003312
  • BrachydactylyHP:0001156
  • Clinodactyly of the 5th fingerHP:0004209
  • Hip dysplasiaHP:0001385
  • Reduced bone mineral densityHP:0004349
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(2)

  • Intrauterine growth retardationHP:0001511
  • ProptosisHP:0000520

Occasional (29-5%)(8)

  • Abnormal cardiac septum morphologyHP:0001671
  • Corneal opacityHP:0007957
  • Global developmental delayHP:0001263
  • Narrow mouthHP:0000160
  • Posteriorly rotated earsHP:0000358
  • Short noseHP:0003196
  • StrabismusHP:0000486
  • Thin vermilion borderHP:0000233