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X-linked dominant chondrodysplasia, Chassaing-Lacombe type

ORPHA:163966 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(14)

  • Depressed nasal ridgeHP:0000457
  • Frontal bossingHP:0002007
  • HydrocephalusHP:0000238
  • Hypoplastic iliac wingHP:0002866
  • Low-set earsHP:0000369
  • Metaphyseal chondrodysplasiaHP:0005871
  • Metaphyseal cupping of metacarpalsHP:0006028
  • MicrophthalmiaHP:0000568
  • PlatyspondylyHP:0000926
  • RhizomeliaHP:0008905
  • Short footHP:0001773
  • Short noseHP:0003196
  • Short palmHP:0004279
  • Short statureHP:0004322

Frequent (79-30%)(5)

  • Abnormality of the calcaneusHP:0008364
  • Death in infancyHP:0001522
  • Intrauterine growth retardationHP:0001511
  • Mild intellectual disabilityHP:0001256
  • Thin ribsHP:0000883

Occasional (29-5%)(5)

  • Cerebellar hypoplasiaHP:0001321
  • HyperkeratosisHP:0000962
  • MicrognathiaHP:0000347
  • Short philtrumHP:0000322
  • Wide mouthHP:0000154