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Cutis marmorata telangiectatica congenita

ORPHA:1556 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(9)

  • Abnormality of the lower limbHP:0002814
  • Abnormality of the skinHP:0000951
  • Abnormality of the upper limbHP:0002817
  • Arteriovenous malformationHP:0100026
  • Cutis marmorataHP:0000965
  • SeizureHP:0001250
  • Short lower limbsHP:0006385
  • Skin erosionHP:0200041
  • Subcutaneous hemorrhageHP:0001933

Frequent (79-30%)(4)

  • Aplasia/Hypoplasia of the skinHP:0008065
  • LeukocoriaHP:0000555
  • Retinal detachmentHP:0000541
  • Telangiectasia of the skinHP:0100585

Occasional (29-5%)(19)

  • Arterial stenosisHP:0100545
  • AscitesHP:0001541
  • Asymmetric growthHP:0100555
  • Blue nevusHP:0100814
  • Capillary hemangiomaHP:0005306
  • Cognitive impairmentHP:0100543
  • Displacement of the urethral meatusHP:0100627
  • Finger syndactylyHP:0006101
  • HypothyroidismHP:0000821
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • Multicystic kidney dysplasiaHP:0000003
  • Multiple cafe-au-lait spotsHP:0007565
  • Orofacial cleftHP:0000202
  • Patent ductus arteriosusHP:0001643
  • PurpuraHP:0000979
  • Reduced bone mineral densityHP:0004349
  • ScoliosisHP:0002650
  • Toe syndactylyHP:0001770