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Autosomal recessive Kenny-Caffey syndrome

ORPHA:93324 · Etiological subtype · Subtype of disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(3)

  • Congenital hypoparathyroidismHP:0008198
  • HypocalcemiaHP:0002901
  • Hypocalcemic seizuresHP:0002199

Frequent (79-30%)(19)

  • Calvarial osteosclerosisHP:0005450
  • Carious teethHP:0000670
  • Cortical thickening of long bone diaphysesHP:0005791
  • Decreased skull ossificationHP:0004331
  • Delayed cranial suture closureHP:0000270
  • Delayed skeletal maturationHP:0002750
  • Full cheeksHP:0000293
  • Growth delayHP:0001510
  • HypertelorismHP:0000316
  • Hypocalcemic tetanyHP:0003472
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Postnatal growth retardationHP:0008897
  • Short footHP:0001773
  • Small handHP:0200055
  • Stenosis of the medullary cavity of the long bonesHP:0100254
  • Thin clavicleHP:0006645
  • Thin long bone diaphysesHP:0006470
  • Thin ribsHP:0000883