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Geleophysic dysplasia

ORPHA:2623 · Malformation syndrome · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(1)

  • Short statureHP:0004322

Frequent (79-30%)(24)

  • Airway obstructionHP:0006536
  • Anteverted naresHP:0000463
  • AsthmaHP:0002099
  • BrachydactylyHP:0001156
  • Conductive hearing impairmentHP:0000405
  • Delayed skeletal maturationHP:0002750
  • Elevated pulmonary artery pressureHP:0004890
  • Increased size of nasopharyngeal adenoidsHP:0040261
  • Intrauterine growth retardationHP:0001511
  • Joint contractureHP:0034392
  • Limitation of joint mobilityHP:0001376
  • Long philtrumHP:0000343
  • Phalangeal cone-shaped epiphysesHP:0034281
  • PolyhydramniosHP:0001561
  • Recurrent ear infectionsHP:0410018
  • Round faceHP:0000311
  • Short fetal femur lengthHP:0011428
  • Short footHP:0001773
  • Short long boneHP:0003026
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Thickened skinHP:0001072
  • Thin upper lip vermilionHP:0000219
  • Valvular pulmonary stenosisHP:0034350

Occasional (29-5%)(20)

  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Aortic valve stenosisHP:0001650
  • AstigmatismHP:0000483
  • Atrioventricular canal defectHP:0006695
  • Constrictive median neuropathyHP:0012185
  • HepatomegalyHP:0002240
  • Hip dysplasiaHP:0001385
  • HypermetropiaHP:0000540
  • HypertelorismHP:0000316
  • Laryngeal stenosisHP:0001602
  • LaryngomalaciaHP:0001601
  • Mitral regurgitationHP:0001653
  • Mitral stenosisHP:0001718
  • MyopiaHP:0000545
  • Obstructive sleep apneaHP:0002870
  • Respiratory insufficiencyHP:0002093
  • Restrictive ventilatory defectHP:0002091
  • Tip-toe gaitHP:0030051
  • Tracheal stenosisHP:0002777
  • TracheomalaciaHP:0002779

Very rare (<4-1%)(2)

  • GlaucomaHP:0000501
  • HypothyroidismHP:0000821