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Noonan syndrome with multiple lentigines

ORPHA:500 · Malformation syndrome · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(16)

  • Abnormal pulmonary valve morphologyHP:0001641
  • Abnormality of the genital systemHP:0000078
  • Abnormality of the pulmonary arteryHP:0004414
  • ArrhythmiaHP:0011675
  • Bundle branch blockHP:0011710
  • FrecklingHP:0001480
  • Growth delayHP:0001510
  • Hyperextensible skinHP:0000974
  • HypertelorismHP:0000316
  • Hypertrophic cardiomyopathyHP:0001639
  • Intrauterine growth retardationHP:0001511
  • Melanocytic nevusHP:0000995
  • Multiple lentiginesHP:0001003
  • Pulmonic stenosisHP:0001642
  • Sensorineural hearing impairmentHP:0000407
  • Severe sensorineural hearing impairmentHP:0008625

Frequent (79-30%)(16)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal mitral valve morphologyHP:0001633
  • Abnormality of the faceHP:0000271
  • Atrioventricular canal defectHP:0006695
  • CryptorchidismHP:0000028
  • Decreased fertilityHP:0000144
  • Mitral valve prolapseHP:0001634
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Scapular wingingHP:0003691
  • Short statureHP:0004322
  • Sprengel anomalyHP:0000912
  • Webbed neckHP:0000465
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(18)

  • Abnormal endocardium morphologyHP:0004306
  • Abnormal localization of kidneyHP:0100542
  • Abnormality of the voiceHP:0001608
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • BrachycephalyHP:0000248
  • Excessive wrinkled skinHP:0007392
  • Global developmental delayHP:0001263
  • HypospadiasHP:0000047
  • MelanomaHP:0002861
  • Mild intellectual disabilityHP:0001256
  • MyelodysplasiaHP:0002863
  • Myocardial infarctionHP:0001658
  • NeuroblastomaHP:0003006
  • ScoliosisHP:0002650
  • Spina bifida occultaHP:0003298
  • Subcutaneous noduleHP:0001482
  • Triangular faceHP:0000325
  • Vascular dilatationHP:0002617