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Mandibuloacral dysplasia with type A lipodystrophy

ORPHA:90153 · Clinical subtype · Subtype of disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(14)

  • Acroosteolysis of distal phalanges (feet)HP:0001870
  • AlopeciaHP:0001596
  • Aplasia/Hypoplasia of the claviclesHP:0006710
  • Dermal atrophyHP:0004334
  • Large fontanellesHP:0000239
  • Limitation of joint mobilityHP:0001376
  • OsteolysisHP:0002797
  • Osteolytic defects of the distal phalanges of the handHP:0009839
  • Prematurely aged appearanceHP:0007495
  • Progeroid facial appearanceHP:0005328
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322
  • Thin skinHP:0000963
  • Wormian bonesHP:0002645

Frequent (79-30%)(4)

  • Abnormal eyebrow morphologyHP:0000534
  • HyperlipidemiaHP:0003077
  • Insulin resistanceHP:0000855
  • ProptosisHP:0000520

Occasional (29-5%)(12)

  • Abnormality of the dentitionHP:0000164
  • Abnormality of the musculatureHP:0003011
  • Absent eyelashesHP:0000561
  • ArthralgiaHP:0002829
  • Breast aplasiaHP:0100783
  • CataractHP:0000518
  • Flexion contractureHP:0001371
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Hyperpigmentation of the skinHP:0000953
  • HypotoniaHP:0001252
  • Lack of skin elasticityHP:0100679