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Congenital infiltrating lipomatosis of the face

ORPHA:583097 · Disease · Disorder

HPO 表現型（共 20 項）

Obligate (100%)(1)

  • Facial asymmetryHP:0000324

Frequent (79-30%)(9)

  • Abnormal subcutaneous fat tissue distributionHP:0007552
  • Advanced eruption of teethHP:0006288
  • Enlarged tonsilsHP:0030812
  • Enlargement of parotid glandHP:0011801
  • Full cheeksHP:0000293
  • Hyperplasia of the maxillaHP:0430028
  • MacroglossiaHP:0000158
  • Mandibular prognathiaHP:0000303
  • Prominence of the zygomatic boneHP:0012370

Occasional (29-5%)(10)

  • Abnormal social behaviorHP:0012433
  • Agenesis of permanent teethHP:0006349
  • HemimegalencephalyHP:0007206
  • MacrodontiaHP:0001572
  • Melanocytic nevusHP:0000995
  • Multiple mucosal neuromasHP:0031023
  • PachygyriaHP:0001302
  • Sleep apneaHP:0010535
  • Sleep disturbanceHP:0002360
  • Temporomandibular joint ankylosisHP:0012478