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What is Ellis-van Creveld syndrome? Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in short stature (dwarfism). People with this condition have particularly short forearms and lower legs and short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), unusually formed nails and teeth, and heart defects.
How common is Ellis-van Creveld syndrome? In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the indigenous population of Western Australia.
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medgen.genetics.utah.edu
Medical Genetics: 2nd Edition
Lynn B. Jorde, PhD; John C. Carey, MD; Michael J. Bamshad, MD; and Raymond L. White, PhD
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www.ncbi.nlm.nih.gov
National Center for Biotechnology Information
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