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Dysmorphism-pectus carinatum-joint laxity syndrome

ORPHA:2104 · Malformation syndrome · Disorder

HPO 表現型(共 11 項)

Very frequent (99-80%)(11)

  • Convex nasal ridgeHP:0000444
  • Deep philtrumHP:0002002
  • Depressed nasal ridgeHP:0000457
  • Frontal bossingHP:0002007
  • Full cheeksHP:0000293
  • Genu valgumHP:0002857
  • Joint hypermobilityHP:0001382
  • Malar flatteningHP:0000272
  • Pectus carinatumHP:0000768
  • TelecanthusHP:0000506
  • Tented upper lip vermilionHP:0010804