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Progeria-short stature-pigmented nevi syndrome

ORPHA:2959 · Malformation syndrome · Disorder

HPO 表現型（共 56 項）

Very frequent (99-80%)(48)

  • Abnormal muscle toneHP:0003808
  • Abnormal thalamus morphologyHP:0010663
  • Abnormally high-pitched voiceHP:0001620
  • AlopeciaHP:0001596
  • Band keratopathyHP:0000585
  • Bifid uvulaHP:0000193
  • Bird-like faciesHP:0000320
  • BrachydactylyHP:0001156
  • Broad-based gaitHP:0002136
  • CataractHP:0000518
  • Central sleep apneaHP:0010536
  • Cognitive impairmentHP:0100543
  • Decreased serum estradiolHP:0008214
  • Decreased serum testosterone concentrationHP:0040171
  • Decreased total T cell countHP:0005403
  • Delayed pubertyHP:0000823
  • Dental malocclusionHP:0000689
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Fragile teethHP:0025124
  • Gastroesophageal refluxHP:0002020
  • Hepatic steatosisHP:0001397
  • Hypergonadotropic hypogonadismHP:0000815
  • Hyperpigmented neviHP:0007481
  • HypodontiaHP:0000668
  • HypospadiasHP:0000047
  • ImmunodeficiencyHP:0002721
  • InsomniaHP:0100785
  • Insulin-resistant diabetes mellitusHP:0000831
  • Lack of facial subcutaneous fatHP:0005320
  • Low posterior hairlineHP:0002162
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MicropenisHP:0000054
  • Multiple joint contracturesHP:0002828
  • OsteopeniaHP:0000938
  • ParesthesiaHP:0003401
  • Premature ovarian insufficiencyHP:0008209
  • Prematurely aged appearanceHP:0007495
  • Progeroid facial appearanceHP:0005328
  • Progressive sensorineural hearing impairmentHP:0000408
  • Progressive visual lossHP:0000529
  • Recurrent viral infectionsHP:0004429
  • Selective tooth agenesisHP:0001592
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • Small for gestational ageHP:0001518
  • Supraventricular arrhythmiaHP:0005115

Occasional (29-5%)(8)

  • Episodic vomitingHP:0002572
  • Generalized osteoporosisHP:0040160
  • Microcytic anemiaHP:0001935
  • Mild intellectual disabilityHP:0001256
  • Motor delayHP:0001270
  • NeoplasmHP:0002664
  • Neoplasm of the pancreasHP:0002894
  • Thoracic scoliosisHP:0002943