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Orofaciodigital syndrome type 1

ORPHA:2750 · Malformation syndrome · Disorder

HPO 表現型（共 65 項）

Very frequent (99-80%)(9)

  • Abnormality of the faceHP:0000271
  • Accessory oral frenulumHP:0000191
  • Broad alveolar ridgesHP:0000187
  • Frontal bossingHP:0002007
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Lobulated tongueHP:0000180
  • Median cleft upper lipHP:0000161
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(20)

  • Abnormal skull morphologyHP:0000929
  • Abnormality of the dentitionHP:0000164
  • AtaxiaHP:0001251
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Cone-shaped epiphysisHP:0010579
  • Deviation of fingerHP:0004097
  • Downslanted palpebral fissuresHP:0000494
  • Facial asymmetryHP:0000324
  • Finger syndactylyHP:0006101
  • Foot polydactylyHP:0001829
  • Hamartoma of tongueHP:0011802
  • Hand polydactylyHP:0001161
  • HypodontiaHP:0000668
  • Intellectual disabilityHP:0001249
  • Reduced bone mineral densityHP:0004349
  • SeizureHP:0001250
  • Short toeHP:0001831
  • Tongue nodulesHP:0000199
  • Underdeveloped nasal alaeHP:0000430

Occasional (29-5%)(36)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of the pancreasHP:0001732
  • Abnormality of the skeletal systemHP:0000924
  • Agenesis of corpus callosumHP:0001274
  • AlopeciaHP:0001596
  • BrachydactylyHP:0001156
  • Brittle hairHP:0002299
  • Choanal atresiaHP:0000453
  • Chronic otitis mediaHP:0000389
  • Coarse hairHP:0002208
  • Dandy-Walker malformationHP:0001305
  • Dry skinHP:0000958
  • DystoniaHP:0001332
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • EpicanthusHP:0000286
  • Exocrine pancreatic insufficiencyHP:0001738
  • Hearing impairmentHP:0000365
  • HydronephrosisHP:0000126
  • HypertensionHP:0000822
  • Hypoplasia of the zygomatic boneHP:0010669
  • Lip pitHP:0100267
  • MicrognathiaHP:0000347
  • MiliaHP:0001056
  • Multicystic kidney dysplasiaHP:0000003
  • Odontogenic neoplasmHP:0100612
  • Open biteHP:0010807
  • Pancreatic cystsHP:0001737
  • Postaxial hand polydactylyHP:0001162
  • Preaxial hand polydactylyHP:0001177
  • ProteinuriaHP:0000093
  • Renal insufficiencyHP:0000083
  • Sparse hairHP:0008070
  • Tarsal synostosisHP:0008368
  • TelecanthusHP:0000506
  • TremorHP:0001337
  • Vascular dilatationHP:0002617