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Juvenile polyposis of infancy

ORPHA:79076 · Clinical subtype · Subtype of disorder

HPO 表現型（共 43 項）

Obligate (100%)(1)

  • Adenomatous colonic polyposisHP:0005227

Very frequent (99-80%)(3)

  • AnemiaHP:0001903
  • DiarrheaHP:0002014
  • Gastrointestinal hemorrhageHP:0002239

Frequent (79-30%)(15)

  • Abdominal painHP:0002027
  • Abnormal bleedingHP:0001892
  • Abnormal facial shapeHP:0001999
  • CachexiaHP:0004326
  • Hamartomatous polyposisHP:0004390
  • HemangiomaHP:0001028
  • HematocheziaHP:0002573
  • HypertelorismHP:0000316
  • HypoalbuminemiaHP:0003073
  • Intellectual disabilityHP:0001249
  • Large foreheadHP:0002003
  • MacrocephalyHP:0000256
  • MelenaHP:0002249
  • Protein-losing enteropathyHP:0002243
  • Refractory anemiaHP:0005505

Occasional (29-5%)(23)

  • Abnormal heart morphologyHP:0001627
  • Atrial septal defectHP:0001631
  • Broad phalanx of the toesHP:0010174
  • Broad thumbHP:0011304
  • Clubbing of fingersHP:0100759
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Freckled genitaliaHP:0030257
  • Frontal bossingHP:0002007
  • Generalized hypotoniaHP:0001290
  • HemangioblastomaHP:0010797
  • High, narrow palateHP:0002705
  • Intestinal bleedingHP:0002584
  • IntussusceptionHP:0002576
  • Low-set earsHP:0000369
  • Midclavicular hypoplasiaHP:0006608
  • Mild intellectual disabilityHP:0001256
  • Motor delayHP:0001270
  • Narrow mouthHP:0000160
  • Patent ductus arteriosusHP:0001643
  • Rectal prolapseHP:0002035
  • Short chinHP:0000331
  • Short statureHP:0004322

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

  • Subcutaneous lipomaHP:0001031