← 返回搜尋

Orofaciodigital syndrome type 5

ORPHA:2919 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(3)

  • Median cleft upper lipHP:0000161
  • Postaxial foot polydactylyHP:0001830
  • Postaxial hand polydactylyHP:0001162

Frequent (79-30%)(6)

  • Abnormality of the philtrumHP:0000288
  • Accessory oral frenulumHP:0000191
  • Bifid tongueHP:0010297
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249

Occasional (29-5%)(18)

  • Abnormal oral frenulum morphologyHP:0000190
  • Absent cupid's bowHP:0010800
  • Aganglionic megacolonHP:0002251
  • Agenesis of canineHP:0012738
  • Agenesis of corpus callosumHP:0001274
  • Bifid uvulaHP:0000193
  • Cleft soft palateHP:0000185
  • Crossed fused renal ectopiaHP:0004736
  • Ectopic accessory finger-like appendageHP:0010441
  • Enamel hypoplasiaHP:0006297
  • High, narrow palateHP:0002705
  • HypodontiaHP:0000668
  • MicrocephalyHP:0000252
  • Non-midline cleft of the upper lipHP:0100335
  • Postaxial polysyndactyly of footHP:0005817
  • ScoliosisHP:0002650
  • Supernumerary toothHP:0011069
  • Tetralogy of FallotHP:0001636