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Craniofrontonasal dysplasia-Poland anomaly syndrome

ORPHA:1521 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(6)

  • Aplasia/Hypoplasia involving bones of the skullHP:0009116
  • Broad nasal tipHP:0000455
  • CraniosynostosisHP:0001363
  • HypertelorismHP:0000316
  • Midline nasal grooveHP:0004112
  • Wide noseHP:0000445

Frequent (79-30%)(20)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormal reproductive system morphologyHP:0012243
  • Aplasia/Hypoplasia involving the shoulder musculatureHP:0001464
  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • Asymmetry of the naresHP:0009930
  • Bifid uterusHP:0000136
  • Diastasis rectiHP:0001540
  • High palateHP:0000218
  • Low posterior hairlineHP:0002162
  • PlagiocephalyHP:0001357
  • Short lingual frenulumHP:0000200
  • Sparse eyebrowHP:0045075
  • StrabismusHP:0000486
  • Supernumerary nippleHP:0002558
  • SyndactylyHP:0001159
  • Unilateral brachydactylyHP:0006008
  • Unilateral hypoplasia of pectoralis major muscleHP:0011959
  • Vertical orbital dystopiaHP:0030867
  • Webbed neckHP:0000465
  • Wide mouthHP:0000154