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Cenani-Lenz syndrome

ORPHA:3258 · Malformation syndrome · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(7)

  • Abnormal metacarpal morphologyHP:0005916
  • Absent fingernailHP:0001817
  • Finger syndactylyHP:0006101
  • Frontal bossingHP:0002007
  • OligodactylyHP:0012165
  • Synostosis of carpal bonesHP:0005048
  • Synostosis of jointsHP:0100240

Frequent (79-30%)(8)

  • Absent toenailHP:0001802
  • Downslanted palpebral fissuresHP:0000494
  • HypertelorismHP:0000316
  • Hypoplasia of the radiusHP:0002984
  • Hypoplasia of the ulnaHP:0003022
  • Radioulnar synostosisHP:0002974
  • Short thumbHP:0009778
  • Toe syndactylyHP:0001770

Occasional (29-5%)(26)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal rib morphologyHP:0000772
  • Abnormal vertebral body morphologyHP:0003312
  • CataractHP:0000518
  • Convex nasal ridgeHP:0000444
  • Crossed fused renal ectopiaHP:0004736
  • EctropionHP:0000656
  • Elbow dislocationHP:0003042
  • Foot oligodactylyHP:0001849
  • Hearing impairmentHP:0000365
  • High, narrow palateHP:0002705
  • Hip dislocationHP:0002827
  • HypodontiaHP:0000668
  • HypothyroidismHP:0000821
  • LaryngomalaciaHP:0001601
  • Malar flatteningHP:0000272
  • MicromeliaHP:0002983
  • NystagmusHP:0000639
  • ProptosisHP:0000520
  • Protruding earHP:0000411
  • PtosisHP:0000508
  • Renal hypoplasia/aplasiaHP:0008678
  • ScoliosisHP:0002650
  • Short noseHP:0003196
  • Short philtrumHP:0000322