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Acrofrontofacionasal dysostosis

ORPHA:1784 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(25)

  • Abnormal epiphysis morphologyHP:0005930
  • AnonychiaHP:0001798
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Broad foreheadHP:0000337
  • Broad nasal tipHP:0000455
  • Broad thumbHP:0011304
  • Brushfield spotsHP:0001088
  • Camptodactyly of fingerHP:0100490
  • Cerebral cortical atrophyHP:0002120
  • Cleft palateHP:0000175
  • Dimple on nasal tipHP:0004132
  • Downslanted palpebral fissuresHP:0000494
  • Eyelid colobomaHP:0000625
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Hypopigmented skin patchesHP:0001053
  • MicromeliaHP:0002983
  • Midface retrusionHP:0011800
  • Non-midline cleft of the upper lipHP:0100335
  • PtosisHP:0000508
  • Severe intellectual disabilityHP:0010864
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322

Frequent (79-30%)(1)

  • Everted lower lip vermilionHP:0000232

Occasional (29-5%)(3)

  • Abnormality of the genitourinary systemHP:0000119
  • Bifid scrotumHP:0000048
  • HypospadiasHP:0000047