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Otopalatodigital syndrome type 1

ORPHA:90650 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(14)

  • AnodontiaHP:0000674
  • Cleft palateHP:0000175
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Limitation of joint mobilityHP:0001376
  • Mild intellectual disabilityHP:0001256
  • OligodontiaHP:0000677
  • Prominent supraorbital ridgesHP:0000336
  • Sandal gapHP:0001852
  • Short halluxHP:0010109
  • Skeletal dysplasiaHP:0002652
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(10)

  • Abnormal metacarpal morphologyHP:0005916
  • Bowing of the long bonesHP:0006487
  • Elbow dislocationHP:0003042
  • Hypoplastic frontal sinusesHP:0002738
  • Increased bone mineral densityHP:0011001
  • Proximal placement of thumbHP:0009623
  • Short distal phalanx of fingerHP:0009882
  • Short palmHP:0004279
  • Short thumbHP:0009778
  • Thickened calvariaHP:0002684

Occasional (29-5%)(3)

  • Abnormal vertebral segmentation and fusionHP:0005640
  • Abnormality of the tarsal bonesHP:0001850
  • Synostosis of carpal bonesHP:0005048