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Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067 · Disease · Disorder

HPO 表現型（共 25 項）

Frequent (79-30%)(14)

  • Bowing of the long bonesHP:0006487
  • Disproportionate short-limb short statureHP:0008873
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • High palateHP:0000218
  • HydroxyprolinuriaHP:0003080
  • HypercalcemiaHP:0003072
  • HypercalciuriaHP:0002150
  • HypertelorismHP:0000316
  • HypophosphatemiaHP:0002148
  • MicrognathiaHP:0000347
  • OsteopeniaHP:0000938
  • Sclerosis of skull baseHP:0002694
  • Thin bony cortexHP:0002753
  • Waddling gaitHP:0002515

Occasional (29-5%)(10)

  • Bilateral choanal atresia/stenosisHP:0200138
  • Downslanted palpebral fissuresHP:0000494
  • Feeding difficulties in infancyHP:0008872
  • Full cheeksHP:0000293
  • Joint contractureHP:0034392
  • Neonatal respiratory distressHP:0002643
  • NephrocalcinosisHP:0000121
  • ProptosisHP:0000520
  • Thin ribsHP:0000883
  • Wide cranial suturesHP:0010537

Excluded (0%)(1)

  • Elevated circulating parathyroid hormone levelHP:0003165