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Ellis-van Creveld syndrome

Also known as: Chondroectodermal Dysplasia, Mesoectodermal Dysplasia

Background

Ellis-van Creveld syndrome (EvC) is a rare inherited bone growth disorder, which results in short stature. It is also characterised by the presence of extra fingers and toes, unusually formed nails and teeth, and heart defects. The severity of the condition varies from person to person.

Credits

Medical text written October 2005 by Dr M Wright. Last updated December 2011 by Dr M Wright, Consultant Clinical Geneticist, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Centre for Life, Newcastle upon Tyne, Newcastle, UK.

What are the symptoms?

Symptoms of EvC 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 (ASD)
  • polydactyly (extra fingers and/or toes)
  • 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. Most people with EvC have normal intelligence.

What are the causes?

Mutations in the EVC and EVC2 genes cause EvC. The exact function of these genes is becoming clearer. How they cause dwarfism and other symptoms of the condition is beginning to be understood. Most people with EvC syndrome have mutations in both copies of the EVC or EVC2 gene in each cell, some affected people have only one mutated copy of the gene in each cell. Scientists believe that unidentified mutations in the EVC or EVC2 gene, or mutations in other genes, may be associated with EvC syndrome in these cases.

How is it diagnosed?

The diagnosis is normally made based on the features that a person has and the appearance of the bones on X-ray. Molecular testing of DNA for mutations in the EVC and EVC2 genes can confirm a diagnosis.

How is it treated?

There is no cure for the condition. Treatment is designed to alleviate symptoms of the condition. Common problems that occur in adolescents and young adults and include knee pain due to the knock knee deformity, sometimes requiring an operation to correct it. Dentist or orthodontist may need to deal with small or missing teeth. Some children have very small chests, which can cause severe breathing problems in the first few months of life but this is unusual.

Approximately half of children with EvC have a heart defect. In most cases, this can be repaired by surgery. If these problems are treated successfully most children with EvC have a normal life expectancy. Supports and aids to deal with restricted growth will help with daily living tasks.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
EvC is inherited in an autosomal recessive manner. Although most people with EvC have mutations in both copies of the EVC or EVC2 gene in each cell, some affected people have only one mutated copy of the gene in each cell.

Prenatal diagnosis
Short limbs, extra fingers and a heart defect may be visible on an ultrasound scan. If the mutations in a family are known it may be possible to perform prenatal testing by chorionic villus biopsy at 12 weeks or amniocentesis at 16 weeks. This is becoming more easily available as testing for mutations in the EVC genes is now available in an NHS genetic laboratory.

Is there support?

Ellis-Van Creveld Foundation

Tel: 01621 829 675

The Foundation is a small self help group that offers support, information and advice to the families of affected children. It raises awareness of the condition through contact with professionals and compiles data on affected children to support research. The Foundation is in touch with a number of families in the UK.

Group details last updated August 2014.

ellisvancreveld.co.uk

ellisvancreveld.co.uk/evc/

An independent website providing information and facilitating parent networking.

Group details last confirmed September 2015.

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