← 返回搜尋

Esophageal atresia

ORPHA:1199 · Morphological anomaly · Disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(1)

  • Tracheoesophageal fistulaHP:0002575

Frequent (79-30%)(14)

  • Absence of stomach bubble on fetal sonographyHP:0010963
  • BronchitisHP:0012387
  • Chronic pulmonary obstructionHP:0006510
  • DysphagiaHP:0002015
  • EsophagitisHP:0100633
  • Excessive salivationHP:0003781
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Gastrointestinal dysmotilityHP:0002579
  • Immunologic hypersensitivityHP:0100326
  • Oral aversionHP:0012523
  • Recurrent respiratory infectionsHP:0002205
  • Restrictive ventilatory defectHP:0002091
  • VomitingHP:0002013

Occasional (29-5%)(22)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal gastrointestinal tract morphologyHP:0012718
  • Abnormal respiratory system morphologyHP:0012252
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of limbsHP:0040064
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the urinary systemHP:0000079
  • Anorectal anomalyHP:0012732
  • AspirationHP:0002835
  • ClinodactylyHP:0030084
  • CyanosisHP:0000961
  • Episodic respiratory distressHP:0004885
  • Gastroesophageal refluxHP:0002020
  • Growth delayHP:0001510
  • LaryngotracheomalaciaHP:0008755
  • PallorHP:0000980
  • PolyhydramniosHP:0001561
  • Pyloric stenosisHP:0002021
  • Respiratory distressHP:0002098
  • Small for gestational ageHP:0001518
  • Subglottic stenosisHP:0001607
  • Vocal cord paresisHP:0001604

Very rare (<4-1%)(23)

  • Abnormal external genitalia morphologyHP:0000811
  • Abnormal facial shapeHP:0001999
  • Abnormality of the earHP:0000598
  • Barrett esophagusHP:0100580
  • Choanal atresiaHP:0000453
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • Coarctation of aortaHP:0001680
  • ColobomaHP:0000589
  • Duodenal atresiaHP:0002247
  • Gastrointestinal carcinomaHP:0002672
  • Hearing impairmentHP:0000365
  • HypertoniaHP:0001276
  • HypotoniaHP:0001252
  • Intestinal malrotationHP:0002566
  • Laryngeal cleftHP:0008751
  • Maternal diabetesHP:0009800
  • OmphaloceleHP:0001539
  • Pulmonary hypoplasiaHP:0002089
  • Renal agenesisHP:0000104
  • ScoliosisHP:0002650
  • Tetralogy of FallotHP:0001636
  • Ventricular septal defectHP:0001629