← 返回搜尋

Metaphyseal chondrodysplasia, Schmid type

ORPHA:174 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(8)

  • Abnormal distal femoral metaphysis morphologyHP:0030299
  • Abnormal proximal femoral metaphysis morphologyHP:0006431
  • Coxa varaHP:0002812
  • Limb undergrowthHP:0009826
  • Metaphyseal cuppingHP:0003021
  • Metaphyseal irregularityHP:0003025
  • Thick growth platesHP:0025369
  • Waddling gaitHP:0002515

Frequent (79-30%)(16)

  • Abnormal hand metaphysis morphologyHP:0005923
  • Anterior rib cuppingHP:0000907
  • Broad proximal phalanges of the handHP:0009852
  • Disproportionate short-limb short statureHP:0008873
  • Distal femoral metaphyseal irregularityHP:0045079
  • Femoral bowingHP:0002980
  • Flared metaphysisHP:0003015
  • Genu varumHP:0002970
  • Hip dysplasiaHP:0001385
  • Metaphyseal cupping of metacarpalsHP:0006028
  • Metaphyseal cupping of proximal phalangesHP:0006208
  • Osteosclerosis of ribsHP:0006634
  • Proximal femoral metaphyseal irregularityHP:0003411
  • Short long boneHP:0003026
  • Short tubular bones of the handHP:0001248
  • Widened proximal tibial metaphysesHP:0005028

Occasional (29-5%)(9)

  • Abnormal vertebral morphologyHP:0003468
  • ArthralgiaHP:0002829
  • Bowing of the legsHP:0002979
  • Irregular vertebral endplatesHP:0003301
  • Lumbar hyperlordosisHP:0002938
  • ObesityHP:0001513
  • PlatyspondylyHP:0000926
  • Radial metaphyseal irregularityHP:0004019
  • Ulnar metaphyseal irregularityHP:0004042