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Craniosynostosis-anal anomalies-porokeratosis syndrome

ORPHA:85199 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(24)

  • Abnormal clavicle morphologyHP:0000889
  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal dental morphologyHP:0006482
  • Abnormal palate morphologyHP:0000174
  • Absent eyebrowHP:0002223
  • Absent eyelashesHP:0000561
  • Anal atresiaHP:0002023
  • Aplastic clavicleHP:0006660
  • BrachycephalyHP:0000248
  • Coronal craniosynostosisHP:0004440
  • Delayed cranial suture closureHP:0000270
  • Delayed skeletal maturationHP:0002750
  • Ectopic anusHP:0004397
  • Eczematoid dermatitisHP:0000964
  • Frontal bossingHP:0002007
  • HypospadiasHP:0000047
  • Large posterior fontanelleHP:0004491
  • Parietal foraminaHP:0002697
  • PorokeratosisHP:0200044
  • Short thoraxHP:0010306
  • Tarsal synostosisHP:0008368
  • Thin fingernailHP:0012742
  • Urogenital fistulaHP:0100589
  • Wide anterior fontanelHP:0000260

Frequent (79-30%)(8)

  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Intellectual disabilityHP:0001249
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • ProptosisHP:0000520
  • Thick vermilion borderHP:0012471
  • Wide mouthHP:0000154

Occasional (29-5%)(3)

  • Cleft palateHP:0000175
  • KyphosisHP:0002808
  • PlagiocephalyHP:0001357