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Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(2)

  • Conductive hearing impairmentHP:0000405
  • Mild intellectual disabilityHP:0001256

Frequent (79-30%)(22)

  • Antecubital pterygiumHP:0009760
  • Aplasia/Hypoplasia of metatarsal bonesHP:0001964
  • Bowing of the legsHP:0002979
  • Broad footHP:0001769
  • Broad palmHP:0001169
  • Broad phalanxHP:0006009
  • Broad tibial metaphysesHP:0006413
  • Disproportionate short-limb short statureHP:0008873
  • Equinovarus deformityHP:0008110
  • Flared metaphysisHP:0003015
  • Genu varumHP:0002970
  • Joint hypermobilityHP:0001382
  • Long fibulaHP:0003085
  • Metaphyseal dysplasiaHP:0100255
  • Metaphyseal wideningHP:0003016
  • Narrow iliac wingHP:0002868
  • Recurrent otitis mediaHP:0000403
  • Short femoral neckHP:0100864
  • Short footHP:0001773
  • Short long boneHP:0003026
  • Short palmHP:0004279
  • Wide femoral metaphysisHP:0006417

Occasional (29-5%)(2)

  • HypermetropiaHP:0000540
  • StrabismusHP:0000486