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3MC syndrome

ORPHA:293843 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(6)

  • Epicanthus inversusHP:0000537
  • Hearing impairmentHP:0000365
  • Highly arched eyebrowHP:0002553
  • Limited pronation/supination of forearmHP:0006394
  • PtosisHP:0000508
  • Radioulnar synostosisHP:0002974

Frequent (79-30%)(17)

  • Abnormal anterior chamber morphologyHP:0000593
  • Bilateral cryptorchidismHP:0008689
  • BlepharophimosisHP:0000581
  • CraniosynostosisHP:0001363
  • Diastasis rectiHP:0001540
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • HyperlordosisHP:0003307
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Large fleshy earsHP:0002265
  • Orofacial cleftHP:0000202
  • Postnatal growth retardationHP:0008897
  • ScoliosisHP:0002650
  • Spina bifida occultaHP:0003298
  • Supernumerary nippleHP:0002558
  • TelecanthusHP:0000506

Occasional (29-5%)(7)

  • Abnormal nasal morphologyHP:0005105
  • Abnormal pinna morphologyHP:0000377
  • Caudal appendageHP:0002825
  • Hip dislocationHP:0002827
  • Low-set earsHP:0000369
  • Prominent coccyxHP:0040016
  • Umbilical herniaHP:0001537