Chondroectodermal dysplasia; EVC DefinitionEllis-van Creveld syndrome is a rare genetic disorder that affects bone growth. CausesEllis-van Creveld is passed down through families (inherited). It is caused by defects in 1 of 2 Ellis-van Creveld syndrome genes (EVC and EVC2). These genes are positioned next to each other on the same chromosome. The severity of the disease varies from person to person. The highest rate of the condition is seen among the Old Order Amish population of Lancaster County, Pennsylvania. It is fairly rare in the general population. SymptomsSymptoms may include:
Exams and TestsSigns of this condition include:
Tests include:
TreatmentTreatment depends on which body system is affected and the severity of the problem. The condition itself is not treatable, but many of the complications can be treated. Support GroupsMore information and support for people with EVC and their families can be found at:
Outlook (Prognosis)Many babies with this condition die in early infancy. Most often this is due to a small chest or heart defect. Stillbirth is common. The outcome depends on which body system is involved and to what extent that body system is involved. Like many genetic conditions involving bones or the physical structure, intelligence is normal. Possible ComplicationsComplications may include:
When to Contact a Medical ProfessionalContact your provider if your child has symptoms of this syndrome. If you have a family history of EVC syndrome and your child has any symptoms, visit your provider. Genetic counseling can help families understand the condition and how to care for the person. PreventionGenetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of EVC syndrome. ReferencesChitty LS, Wilson LC, Ushakov F. Diagnosis and management of fetal skeletal abnormalities. In: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Fetal Medicine: Basic Science and Clinical Practice. 3rd ed. Philadelphia, PA: Elsevier; 2020:chap 34. Hecht JT, Horton WA. Other inherited disorders of skeletal development. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 720. National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Ellis-van-Creveld syndrome. rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome. Updated February 2023. Accessed October 17, 2023. | |
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Review Date: 9/18/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. | |
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Chromosomes and DN
