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Costello syndrome

ORPHA:3071 · Malformation syndrome · Disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(20)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormality of the skinHP:0000951
  • Acanthosis nigricansHP:0000956
  • Concave nailHP:0001598
  • Deep-set nailsHP:0001814
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • HyperkeratosisHP:0000962
  • Lack of skin elasticityHP:0100679
  • MacrocephalyHP:0000256
  • Narrow palateHP:0000189
  • PtosisHP:0000508
  • Pulmonic stenosisHP:0001642
  • Redundant skinHP:0001582
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Ventricular septal defectHP:0001629
  • Woolly hairHP:0002224

Frequent (79-30%)(26)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal dermatoglyphicsHP:0007477
  • Abnormality of the dentitionHP:0000164
  • AstigmatismHP:0000483
  • Cerebral cortical atrophyHP:0002120
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • Full cheeksHP:0000293
  • Gastroesophageal refluxHP:0002020
  • Hypertrophic cardiomyopathyHP:0001639
  • Hypoplastic toenailsHP:0001800
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • KeratoconusHP:0000563
  • MacroglossiaHP:0000158
  • Mitral valve prolapseHP:0001634
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Optic disc pallorHP:0000543
  • PapillomaHP:0012740
  • PolyhydramniosHP:0001561
  • StrabismusHP:0000486
  • Thick lower lip vermilionHP:0000179
  • Thickened Achilles tendonHP:0004690
  • Thickened nuchal skin foldHP:0000474
  • Ulnar deviation of fingerHP:0009465

Occasional (29-5%)(9)

  • Abnormal hair morphologyHP:0001595
  • Coarse facial featuresHP:0000280
  • Compensatory head postureHP:0031705
  • Generalized hyperpigmentationHP:0007440
  • HypermetropiaHP:0000540
  • Large earlobeHP:0009748
  • Large faceHP:0100729
  • Poor suckHP:0002033
  • Posteriorly rotated earsHP:0000358