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Oculofaciocardiodental syndrome

ORPHA:2712 · Malformation syndrome · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(7)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormality of the dentitionHP:0000164
  • Bifid nasal tipHP:0000456
  • CataractHP:0000518
  • Delayed eruption of teethHP:0000684
  • MicrocorneaHP:0000482
  • MicrophthalmiaHP:0000568

Frequent (79-30%)(15)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal palate morphologyHP:0000174
  • Broad palmHP:0001169
  • Cleft palateHP:0000175
  • Flexion contracture of the 2nd toeHP:0010327
  • Flexion contracture of the 4th toeHP:0010339
  • Fused teethHP:0011090
  • HammertoeHP:0001765
  • Long philtrumHP:0000343
  • Narrow faceHP:0000275
  • OligodontiaHP:0000677
  • Prominent nasal bridgeHP:0000426
  • Radioulnar synostosisHP:0002974
  • Submucous cleft hard palateHP:0000176
  • Tooth malpositionHP:0000692

Occasional (29-5%)(21)

  • Clinodactyly of the 5th fingerHP:0004209
  • Cubitus valgusHP:0002967
  • Ectopia lentisHP:0001083
  • Feeding difficulties in infancyHP:0008872
  • Genu valgumHP:0002857
  • GlaucomaHP:0000501
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Highly arched eyebrowHP:0002553
  • Intellectual disabilityHP:0001249
  • Intestinal malrotationHP:0002566
  • Iris colobomaHP:0000612
  • Mitral valve prolapseHP:0001634
  • Patent ductus arteriosusHP:0001643
  • Peripheral pulmonary artery stenosisHP:0004969
  • PtosisHP:0000508
  • Retinal detachmentHP:0000541
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Short thumbHP:0009778
  • Solitary median maxillary central incisorHP:0006315