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  • Charge syndrome Relevant markers:
    Absent semicircular canalsChoanal atresiaChoroid plexus cyst (CPC)Clenched hand/sColobomaCryptoorchidismMicrostomiaPolyhydramniosProminent upper lipRenalTetralogy of Fallot (TOF)Thin aortic archThymic hypoplasia/aplasia/agenesisTracheo-esophageal fistula (TEF)Absent olfactory sulcus
    Parents markers:
    BrainCleft lipCleft palateDysplastic ear/sEarsGenitalsHeartIntrauterine growth retardation (IUGR/SGA/FGR)
      Incidence:1/8500 — 1/15000
      Involved genes:
      (gene — definition — chromosome)      		CHD7 — CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7 — 8q12.2, SEMA3E — SEMAPHORIN 3E — 7q21.11
      Inheritance mode:AD
      Other online databases:OrphaNet: 138, OMIM
      Links:sonoworld.com
      References:
      2012 Int J Cardiol Read on PubMed
      2012 J Med Genet Read on PubMed
      2012 N Engl J Med Case report Read on PubMed
      2012 Prenat Diagn Case report Read on PubMed
      2016 Prenat Diagn Retrospective analysis of ultrasound of 12 cases Read on PubMed
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