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Menke-Hennekam syndrome

ORPHA:592574 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(2)

  • Feeding difficulties in infancyHP:0008872
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(25)

  • Abnormality of the dentitionHP:0000164
  • Abnormality of the philtrumHP:0000288
  • Anteverted naresHP:0000463
  • Autistic behaviorHP:0000729
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Hearing impairmentHP:0000365
  • Highly arched eyebrowHP:0002553
  • HypermetropiaHP:0000540
  • HypertelorismHP:0000316
  • Intrauterine growth retardationHP:0001511
  • Long eyelashesHP:0000527
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Motor delayHP:0001270
  • Prominent foreheadHP:0011220
  • PtosisHP:0000508
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Sandal gapHP:0001852
  • Short columellaHP:0002000
  • Short noseHP:0003196
  • Slanting of the palpebral fissureHP:0200006
  • StrabismusHP:0000486
  • TelecanthusHP:0000506

Occasional (29-5%)(14)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the upper urinary tractHP:0010935
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Cutaneous syndactylyHP:0012725
  • Hip dysplasiaHP:0001385
  • Inguinal herniaHP:0000023
  • MyopiaHP:0000545
  • OverweightHP:0025502
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Small for gestational ageHP:0001518
  • Umbilical herniaHP:0001537

Very rare (<4-1%)(3)

  • Abnormality of thyroid physiologyHP:0002926
  • Cerebral white matter atrophyHP:0012762
  • Reduced circulating growth hormone concentrationHP:0034323