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What is Ellis–van Creveld Syndrome?

  • A form of dwarfism (skeletal dysplasia)
  • Incidence occurs 1 in 60,000 to 200,00 
  • More prevalent in Amish communities
  • Caused by mutation in the EVC and EVC2gene
  • Average height is generally between 3 1/2 foot and 5 foot

Diagnosis of Ellis–van Creveld Syndrome

  • Before birth by: 
    • Ultrasound
    • CVS
  • After birth by:
    • Chest x ray and/or echocardiogram for heart defects
    • Genetic testing
    • Observation of common physical characteristics
    • X-rays
    • Ultrasound
    • Urinalysis

What are common characteristics of Ellis–van Creveld Syndrome?

  • Short limbed dwarfism (Mesomelic)
  • Extra fingers Polydactyl
  • Congenital heart defects 60%
  • Teeth abnormalities widely spaced, delayed/missing and/or present at birth (natal teeth)
  • Nail problems fingernail dysplasia
  • Short ribs
  • Cleft palate
  • Malformation of the wrist bone
  • Sparse, absent or fine textured hair

*Please be aware, not all of the characteristics may be present*

Other information about Ellis–van Creveld Syndrome

  • Intelligence is not affected

Genetics of Ellis–van Creveld Syndrome

  • Autosomal recessive pattern

Dwarfism Genetics EVC mutation recessive

Additional reading about Ellis–van Creveld Syndrome

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