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SHORT syndrome

ORPHA:3163 · Malformation syndrome · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(6)

  • Deeply set eyeHP:0000490
  • Hypoplasia of the irisHP:0007676
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Sensorineural hearing impairmentHP:0000407
  • Severe short statureHP:0003510

Frequent (79-30%)(17)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal pupil morphologyHP:0000615
  • Abnormal speech patternHP:0002167
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the faceHP:0000271
  • AlopeciaHP:0001596
  • Diabetes mellitusHP:0000819
  • Excessive wrinkled skinHP:0007392
  • GlaucomaHP:0000501
  • Insulin resistanceHP:0000855
  • LipodystrophyHP:0009125
  • MegalocorneaHP:0000485
  • MicrodontiaHP:0000691
  • Midface retrusionHP:0011800
  • Poor appetiteHP:0004396
  • Sparse hairHP:0008070
  • Weight lossHP:0001824

Occasional (29-5%)(14)

  • Abnormal anterior chamber morphologyHP:0000593
  • Abnormal mandible morphologyHP:0000277
  • Abnormal zygomatic bone morphologyHP:0010668
  • BrachydactylyHP:0001156
  • Corneal opacityHP:0007957
  • HypertelorismHP:0000316
  • Malar flatteningHP:0000272
  • Posterior embryotoxonHP:0000627
  • Prominent foreheadHP:0011220
  • Prominent supraorbital ridgesHP:0000336
  • Short palmHP:0004279
  • TelecanthusHP:0000506
  • Triangular faceHP:0000325
  • Wide nasal bridgeHP:0000431