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Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

ORPHA:1969 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(8)

  • AnorexiaHP:0002039
  • Anteverted naresHP:0000463
  • CachexiaHP:0004326
  • Finger syndactylyHP:0006101
  • Genu varumHP:0002970
  • Midline defect of the noseHP:0004122
  • PtosisHP:0000508
  • Short statureHP:0004322

Frequent (79-30%)(11)

  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of the thyroid glandHP:0000820
  • Abnormality of the voiceHP:0001608
  • Asymmetry of the thoraxHP:0001555
  • KyphosisHP:0002808
  • Melanocytic nevusHP:0000995
  • Multiple cafe-au-lait spotsHP:0007565
  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650
  • Short hard palateHP:0010290
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(2)

  • Abnormal mitral valve morphologyHP:0001633
  • Generalized hypopigmentationHP:0007513