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Muenke syndrome

ORPHA:53271 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(15)

  • BrachycephalyHP:0000248
  • Carpal synostosisHP:0009702
  • Cone-shaped epiphysisHP:0010579
  • Coronal craniosynostosisHP:0004440
  • High, narrow palateHP:0002705
  • HypertelorismHP:0000316
  • Increased intracranial pressureHP:0002516
  • Malar flatteningHP:0000272
  • PlagiocephalyHP:0001357
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • Sensorineural hearing impairmentHP:0000407
  • Short footHP:0001773
  • Short palmHP:0004279
  • Tarsal synostosisHP:0008368

Occasional (29-5%)(6)

  • Global developmental delayHP:0001263
  • HydrocephalusHP:0000238
  • Hypermelanotic maculeHP:0001034
  • Hypopigmentation of hairHP:0005599
  • Hypopigmented skin patchesHP:0001053
  • MacrocephalyHP:0000256