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Cleidocranial dysplasia

ORPHA:1452 · Malformation syndrome · Disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(19)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormality of the dentitionHP:0000164
  • Carious teethHP:0000670
  • Down-sloping shouldersHP:0200021
  • Frontal bossingHP:0002007
  • High, narrow palateHP:0002705
  • HypertelorismHP:0000316
  • Hypoplasia of the zygomatic boneHP:0010669
  • Hypoplastic inferior iliaHP:0008821
  • Large fontanellesHP:0000239
  • MicrognathiaHP:0000347
  • Narrow chestHP:0000774
  • Recurrent respiratory infectionsHP:0002205
  • Short claviclesHP:0000894
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • Sloping foreheadHP:0000340
  • Supernumerary toothHP:0011069
  • Wormian bonesHP:0002645

Frequent (79-30%)(18)

  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal rib morphologyHP:0000772
  • Abnormal sacrum morphologyHP:0005107
  • BrachydactylyHP:0001156
  • Chronic otitis mediaHP:0000389
  • Decreased skull ossificationHP:0004331
  • Delayed eruption of teethHP:0000684
  • Depressed nasal bridgeHP:0005280
  • Dimple chinHP:0010751
  • Hearing abnormalityHP:0000364
  • Hearing impairmentHP:0000365
  • Mandibular prognathiaHP:0000303
  • Midface retrusionHP:0011800
  • Open biteHP:0010807
  • OsteoporosisHP:0000939
  • Short faceHP:0011219
  • SinusitisHP:0000246
  • Spina bifida occultaHP:0003298

Occasional (29-5%)(18)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal thumb morphologyHP:0001172
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Coxa varaHP:0002812
  • Dystrophic fingernailsHP:0008391
  • Dystrophic toenailHP:0001810
  • Genu valgumHP:0002857
  • GlossoptosisHP:0000162
  • Hypoplastic scapulaeHP:0000882
  • MacrocephalyHP:0000256
  • Recurrent fracturesHP:0002757
  • ScoliosisHP:0002650
  • Sleep apneaHP:0010535
  • Tapered fingerHP:0001182