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Hennekam syndrome

ORPHA:2136 · Malformation syndrome · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(18)

  • Abnormal dental morphologyHP:0006482
  • Abnormal facial shapeHP:0001999
  • Abnormal pinna morphologyHP:0000377
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased total lymphocyte countHP:0001888
  • Delayed eruption of teethHP:0000684
  • Depressed nasal bridgeHP:0005280
  • Flat faceHP:0012368
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • LymphangiomaHP:0100764
  • LymphedemaHP:0001004
  • MalabsorptionHP:0002024
  • Mild postnatal growth retardationHP:0001530
  • Supernumerary toothHP:0011069
  • Tooth agenesisHP:0009804
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(12)

  • Abnormal oral mucosa morphologyHP:0011830
  • AscitesHP:0001541
  • Broad foreheadHP:0000337
  • EpicanthusHP:0000286
  • ErysipelasHP:0001055
  • Gingival overgrowthHP:0000212
  • GlaucomaHP:0000501
  • LymphadenopathyHP:0002716
  • Narrow chestHP:0000774
  • Recurrent respiratory infectionsHP:0002205
  • SeizureHP:0001250
  • SplenomegalyHP:0001744

Occasional (29-5%)(21)

  • Abnormal foot morphologyHP:0001760
  • Arteriovenous malformationHP:0100026
  • Benign neoplasm of the central nervous systemHP:0100835
  • Camptodactyly of fingerHP:0100490
  • ChylothoraxHP:0010310
  • Conductive hearing impairmentHP:0000405
  • CraniosynostosisHP:0001363
  • Ectopic kidneyHP:0000086
  • Finger syndactylyHP:0006101
  • Horseshoe kidneyHP:0000085
  • Hydrops fetalisHP:0001789
  • HypocalcemiaHP:0002901
  • Narrow mouthHP:0000160
  • PachygyriaHP:0001302
  • Pericardial effusionHP:0001698
  • Pulmonary lymphangiectasiaHP:0006521
  • Pyloric stenosisHP:0002021
  • Respiratory insufficiencyHP:0002093
  • RetrognathiaHP:0000278
  • Short philtrumHP:0000322
  • Sparse axillary hairHP:0002215