← 返回搜尋

Patterson-Stevenson-Fontaine syndrome

ORPHA:2439 · Malformation syndrome · Disorder

HPO 表現型(共 12 項)

Frequent (79-30%)(8)

  • Abnormal pinna morphologyHP:0000377
  • Cleft palateHP:0000175
  • MacrotiaHP:0000400
  • Malar flatteningHP:0000272
  • Mandibulofacial dysostosisHP:0005321
  • MicrognathiaHP:0000347
  • Split footHP:0001839
  • Toe syndactylyHP:0001770

Occasional (29-5%)(4)

  • Dental crowdingHP:0000678
  • High palateHP:0000218
  • Preauricular pitHP:0004467
  • Sensorineural hearing impairmentHP:0000407