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Craniofacial-deafness-hand syndrome

ORPHA:1529 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(16)

  • Abnormality of the wristHP:0003019
  • Aplasia/Hypoplasia involving the noseHP:0009924
  • BlepharophimosisHP:0000581
  • Depressed nasal bridgeHP:0005280
  • Depressed nasal ridgeHP:0000457
  • Downslanted palpebral fissuresHP:0000494
  • Flat faceHP:0012368
  • HypertelorismHP:0000316
  • Hypoplasia of the maxillaHP:0000327
  • Lacrimal duct atresiaHP:0000564
  • Narrow faceHP:0000275
  • Narrow mouthHP:0000160
  • Sensorineural hearing impairmentHP:0000407
  • Short noseHP:0003196
  • Ulnar deviation of fingerHP:0009465
  • Ulnar deviation of the wristHP:0003049

Frequent (79-30%)(1)

  • Camptodactyly of fingerHP:0100490