Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Ellis-Van Creveld syndrome


Other Names for this Disease
  • Chondroectodermal dysplasia
  • Ellis Van Creveld syndrome
  • Mesodermic dysplasia
  • Mesoectodermal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have 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.[1][2]
Last updated: 8/5/2015

References

  1. Harold Chen, MD, MS, FAAP, FACMG. Ellis-van Creveld Syndrome. Medscape Reference. April 2015; http://emedicine.medscape.com/article/943684-overview.
  2. Ellis-van Creveld syndrome. Genetics Home Reference. December 2012; http://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

Basic Information

  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
Other Names for this Disease
  • Chondroectodermal dysplasia
  • Ellis Van Creveld syndrome
  • Mesodermic dysplasia
  • Mesoectodermal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.