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Acrofacial dysostosis, Palagonia type

ORPHA:1787 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(13)

  • Delayed skeletal maturationHP:0002750
  • Finger syndactylyHP:0006101
  • Low anterior hairlineHP:0000294
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • OligodontiaHP:0000677
  • Posteriorly rotated earsHP:0000358
  • Short 4th metacarpalHP:0010044
  • Short statureHP:0004322
  • Small handHP:0200055
  • Sparse eyelashesHP:0000653
  • Sparse lateral eyebrowHP:0005338

Frequent (79-30%)(8)

  • Abnormal vertebral body morphologyHP:0003312
  • Broad foreheadHP:0000337
  • Bulbous noseHP:0000414
  • Malar flatteningHP:0000272
  • Short neckHP:0000470
  • Sparse hairHP:0008070
  • Supernumerary toothHP:0011069
  • Thin eyebrowHP:0045074

Occasional (29-5%)(8)

  • Abnormal eyelid morphologyHP:0000492
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Dermal atrophyHP:0004334
  • High, narrow palateHP:0002705
  • Pili tortiHP:0003777
  • ScoliosisHP:0002650
  • Spina bifida occultaHP:0003298
  • Unilateral cleft lipHP:0100333