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Mandibuloacral dysplasia with type B lipodystrophy

ORPHA:90154 · Clinical subtype · Subtype of disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(11)

  • Abnormality of the skeletal systemHP:0000924
  • Acroosteolysis of distal phalanges (feet)HP:0001870
  • Aplasia/Hypoplasia of the claviclesHP:0006710
  • Dermal atrophyHP:0004334
  • Large fontanellesHP:0000239
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • OsteolysisHP:0002797
  • Osteolytic defects of the distal phalanges of the handHP:0009839
  • Short distal phalanx of fingerHP:0009882
  • Thin skinHP:0000963

Frequent (79-30%)(16)

  • Abnormal fingertip morphologyHP:0001211
  • Abnormal hair morphologyHP:0001595
  • Abnormality of the dentitionHP:0000164
  • AlopeciaHP:0001596
  • CalcinosisHP:0003761
  • Convex nasal ridgeHP:0000444
  • Generalized lipodystrophyHP:0009064
  • HyperlipidemiaHP:0003077
  • Hyperpigmentation of the skinHP:0000953
  • Insulin resistanceHP:0000855
  • Nail dystrophyHP:0008404
  • Prematurely aged appearanceHP:0007495
  • Progeroid facial appearanceHP:0005328
  • ProptosisHP:0000520
  • Short noseHP:0003196
  • Short statureHP:0004322

Occasional (29-5%)(1)

  • Delayed pubertyHP:0000823