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Noonan syndrome

ORPHA:648 · Malformation syndrome · Disorder

HPO 表現型（共 70 項）

Very frequent (99-80%)(29)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal EKGHP:0003115
  • Abnormal speech patternHP:0002167
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • Cystic hygromaHP:0000476
  • Downslanted palpebral fissuresHP:0000494
  • DysarthriaHP:0001260
  • Enlarged thoraxHP:0100625
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Hypogonadotropic hypogonadismHP:0000044
  • Joint hypermobilityHP:0001382
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • Muscle weaknessHP:0001324
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Posteriorly rotated earsHP:0000358
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • Pulmonary artery stenosisHP:0004415
  • Short statureHP:0004322
  • Thick lower lip vermilionHP:0000179
  • Thickened helicesHP:0000391
  • Thickened nuchal skin foldHP:0000474
  • Triangular faceHP:0000325
  • Webbed neckHP:0000465
  • Wide intermamillary distanceHP:0006610

Frequent (79-30%)(21)

  • Abnormal bleedingHP:0001892
  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal hair quantityHP:0011362
  • Abnormal platelet functionHP:0011869
  • Abnormal pulmonary valve morphologyHP:0001641
  • Abnormality of coagulationHP:0001928
  • Abnormality of the genital systemHP:0000078
  • Abnormality of the lymphatic systemHP:0100763
  • Abnormality of the spleenHP:0001743
  • ArrhythmiaHP:0011675
  • Blue iridesHP:0000635
  • Coarse hairHP:0002208
  • CryptorchidismHP:0000028
  • Delayed skeletal maturationHP:0002750
  • Feeding difficulties in infancyHP:0008872
  • HepatomegalyHP:0002240
  • HypotoniaHP:0001252
  • Low posterior hairlineHP:0002162
  • Neurodevelopmental delayHP:0012758
  • ScoliosisHP:0002650
  • StrabismusHP:0000486

Occasional (29-5%)(19)

  • Aplasia of the semicircular canalHP:0011381
  • Atrial septal defectHP:0001631
  • BrachydactylyHP:0001156
  • Bruising susceptibilityHP:0000978
  • Clinodactyly of the 5th fingerHP:0004209
  • Coarctation of aortaHP:0001680
  • Delayed menarcheHP:0012569
  • Dilatation of the renal pelvisHP:0010946
  • Hypertrophic cardiomyopathyHP:0001639
  • Intellectual disabilityHP:0001249
  • Juvenile myelomonocytic leukemiaHP:0012209
  • LymphedemaHP:0001004
  • Melanocytic nevusHP:0000995
  • NystagmusHP:0000639
  • OsteopeniaHP:0000938
  • Postnatal growth retardationHP:0008897
  • Radioulnar synostosisHP:0002974
  • Sensorineural hearing impairmentHP:0000407
  • Specific learning disabilityHP:0001328

Very rare (<4-1%)(1)

  • Patent ductus arteriosusHP:0001643