Ellis-Van Creveld syndrome
Other Names for this Disease
- Chondroectodermal dysplasia
- Mesoectodermal dysplasia
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short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have
Last updated: 8/5/2015
- Harold Chen, MD, MS, FAAP, FACMG. Ellis-van Creveld Syndrome. Medscape Reference. April 2015; http://emedicine.medscape.com/article/943684-overview.
- Ellis-van Creveld syndrome. Genetics Home Reference. December 2012; http://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome.
- Genetics Home Reference (GHR) contains information on Ellis-Van Creveld syndrome. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Ellis-Van Creveld syndrome. Click on the link to view a sample search on this topic.