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
Additional reading about Ellis–van Creveld Syndrome
- Genetics Home Reference - Ellis-Van Creveld Syndrome
- GeneReview NCBI - Bookshelf - Ellis-Van Creveld Syndrome
- National Organisation of Rare Disorders (NORD) - Ellis-Van Creveld Syndrome
- LPA Online - Ellis-Van Creveld Syndrome
- OMIM
- Medline Plus
- Kids Health
- Understanding Dwarfism
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