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CHARGE syndrome

ORPHA:138 · Malformation syndrome · Disorder

HPO 表現型（共 94 項）

Very frequent (99-80%)(16)

  • Abnormal cranial nerve morphologyHP:0001291
  • Abnormal pinna morphologyHP:0000377
  • Abnormality of the inner earHP:0000359
  • AnosmiaHP:0000458
  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • ColobomaHP:0000589
  • CryptorchidismHP:0000028
  • Delayed pubertyHP:0000823
  • Feeding difficulties in infancyHP:0008872
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Hypogonadotropic hypogonadismHP:0000044
  • Hypoplasia of the semicircular canalHP:0011382
  • Iris colobomaHP:0000612
  • MicropenisHP:0000054
  • Overfolded helixHP:0000396

Frequent (79-30%)(38)

  • Abnormal aortic valve morphologyHP:0001646
  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal morphology of female internal genitaliaHP:0000008
  • Abnormal soft palate morphologyHP:0100736
  • AnophthalmiaHP:0000528
  • Anterior hypopituitarismHP:0000830
  • Aortic arch aneurysmHP:0005113
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Bifid scrotumHP:0000048
  • Choanal atresiaHP:0000453
  • Chorioretinal colobomaHP:0000567
  • Compulsive behaviorsHP:0000722
  • Delayed eruption of teethHP:0000684
  • Depressed nasal bridgeHP:0005280
  • Dimple chinHP:0010751
  • DysphagiaHP:0002015
  • Facial asymmetryHP:0000324
  • Facial palsyHP:0010628
  • Gastroesophageal refluxHP:0002020
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Interrupted aortic archHP:0011611
  • Labial hypoplasiaHP:0000066
  • MicrophthalmiaHP:0000568
  • Narrow faceHP:0000275
  • Narrow mouthHP:0000160
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Patent ductus arteriosusHP:0001643
  • PolyhydramniosHP:0001561
  • Posteriorly rotated earsHP:0000358
  • Postnatal growth retardationHP:0008897
  • PtosisHP:0000508
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Tetralogy of FallotHP:0001636

Occasional (29-5%)(37)

  • Abnormal rib morphologyHP:0000772
  • Abnormal tibia morphologyHP:0002992
  • Abnormality of bone mineral densityHP:0004348
  • Abnormality of immune system physiologyHP:0010978
  • Abnormality of the adrenal glandsHP:0000834
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Aqueductal stenosisHP:0002410
  • Bifid femurHP:0010443
  • BrachydactylyHP:0001156
  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204
  • Clinodactyly of the 5th fingerHP:0004209
  • Cranial nerve paralysisHP:0006824
  • Dandy-Walker malformationHP:0001305
  • EpicanthusHP:0000286
  • Eyelid colobomaHP:0000625
  • HemivertebraeHP:0002937
  • Highly arched eyebrowHP:0002553
  • HoloprosencephalyHP:0001360
  • Horseshoe kidneyHP:0000085
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • Hypoplasia of the zygomatic boneHP:0010669
  • Intrauterine growth retardationHP:0001511
  • Lacrimation abnormalityHP:0000632
  • LaryngomalaciaHP:0001601
  • MicrocephalyHP:0000252
  • MicrotiaHP:0008551
  • Preauricular skin tagHP:0000384
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650
  • TalipesHP:0001883
  • Tracheoesophageal fistulaHP:0002575
  • Umbilical herniaHP:0001537
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(3)

  • OmphaloceleHP:0001539
  • PolydactylyHP:0010442
  • Webbed neckHP:0000465