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X-linked dominant chondrodysplasia punctata

ORPHA:35173 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(2)

  • Abnormality of the skinHP:0000951
  • Epiphyseal stipplingHP:0010655

Frequent (79-30%)(15)

  • Abnormal skull morphologyHP:0000929
  • Abnormally ossified vertebraeHP:0100569
  • Anomalous tracheal cartilageHP:0004468
  • Anterior rib punctate calcificationsHP:0006619
  • CataractHP:0000518
  • Depressed nasal bridgeHP:0005280
  • Erythematous plaqueHP:0025474
  • ErythrodermaHP:0001019
  • Facial asymmetryHP:0000324
  • Frontal bossingHP:0002007
  • IchthyosisHP:0008064
  • Lower limb asymmetryHP:0100559
  • Scaling skinHP:0040189
  • Short statureHP:0004322
  • Upper limb asymmetryHP:0100560

Occasional (29-5%)(25)

  • Abnormal hair patternHP:0010720
  • Abnormal lung morphologyHP:0002088
  • Abnormal nail morphologyHP:0001597
  • Abnormality of prenatal development or birthHP:0001197
  • Coarse hairHP:0002208
  • Downslanted palpebral fissuresHP:0000494
  • Flexion contractureHP:0001371
  • High palateHP:0000218
  • Hip dislocationHP:0002827
  • HypertelorismHP:0000316
  • Hypoplastic cervical vertebraeHP:0008434
  • KyphoscoliosisHP:0002751
  • Low-set earsHP:0000369
  • MicrocorneaHP:0000482
  • MicrophthalmiaHP:0000568
  • Neonatal epiphyseal stipplingHP:0005756
  • Neonatal hypoglycemiaHP:0001998
  • Neuropathic spinal arthropathyHP:0008443
  • Patchy alopeciaHP:0002232
  • Patellar dislocationHP:0002999
  • Scarring alopecia of scalpHP:0004552
  • Severe postnatal growth retardationHP:0008850
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Talipes equinovarusHP:0001762

Very rare (<4-1%)(4)

  • Abnormal pinna morphologyHP:0000377
  • Arachnoid cystHP:0100702
  • HydronephrosisHP:0000126
  • Sensorineural hearing impairmentHP:0000407