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Ellis-Van Creveld syndrome

Background

Ellis-van Creveld syndrome (EvC) is a rare inherited condition that causes a number of different problems. These include:

  • Short arms and legs causing disproportionate short stature;
  • Short ribs resulting in a narrow chest;
  • Heart defects, most commonly an atrial or an atrioventricular septal defect;
  • Extra fingers and or toes (Polydactyly);
  • Small finger and toe nails;
  • Small or absent teeth;
  • Abnormal knee joints causing knock knees in older children and adults.

Not all of these features are present in everyone with EvC.

What are the symptoms? View What are the symptoms?

Medical text written October 2005 by Dr M Wright, Consultant Clinical Geneticist, Institute of Medical Genetics, International Centre for Life, Newcastle upon Tyne, UK.

 

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