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Autosomal dominant Kenny-Caffey syndrome

ORPHA:93325 · Etiological subtype · Subtype of disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(4)

  • Cortical thickening of long bone diaphysesHP:0005791
  • Delayed cranial suture closureHP:0000270
  • Short statureHP:0004322
  • Stenosis of the medullary cavity of the long bonesHP:0100254

Frequent (79-30%)(23)

  • Abnormal circulating follicle-stimulating hormone concentrationHP:0030346
  • AnemiaHP:0001903
  • Basal ganglia calcificationHP:0002135
  • Bilateral microphthalmosHP:0007633
  • Calvarial osteosclerosisHP:0005450
  • Carious teethHP:0000670
  • Congenital hypoparathyroidismHP:0008198
  • Decreased skull ossificationHP:0004331
  • Decreased testicular sizeHP:0008734
  • Delayed skeletal maturationHP:0002750
  • Growth delayHP:0001510
  • HypermetropiaHP:0000540
  • HyperphosphatemiaHP:0002905
  • HypertelorismHP:0000316
  • Hypocalcemic seizuresHP:0002199
  • Hypocalcemic tetanyHP:0003472
  • Intrauterine growth retardationHP:0001511
  • PapilledemaHP:0001085
  • Postnatal growth retardationHP:0008897
  • Postnatal macrocephalyHP:0005490
  • Prominent foreheadHP:0011220
  • Retinal calcificationHP:0007862
  • Thin long bone diaphysesHP:0006470

Occasional (29-5%)(3)

  • Abnormally high-pitched voiceHP:0001620
  • Developmental cataractHP:0000519
  • Persistence of primary teethHP:0006335