Ellis-van+Creveld+Syndrome

Ellis-van Creveld Syndrome by Ian Ashley

The disease that I had to study was Ellis-van Creveld Syndrome. EVC is a rare genetic disorder that affects the bone growth of developing embryos. It is autosomal recessive and can only be inherited. EVC occurs when the EVC1 or EVC2 genes on chromosome 4p16 are mutated. EVC syndrome causes dwarfism, polydactyly, skeletal abnormalities, heart abnormalities and facial disfigurement.

Ellis-van Creveld Fact Sheet

Name of disease: Ellis-van Creveld Syndrome, Chondroectodermal Dysplasia and Mesoectodermal Dysplasia.

Root cause of disease: Autosomal recessive disorder that mutates the EVC1 or EVC2 genes on chromosome 4p16.

Affected cell types/tissues/organs/systems: Bone cells, sclerotome cells, chondrocytes, heart, respritory system, skeletal system and renal system.

Historical Background: The disorder was discovered and named after Richard W.B. Ellis and Simon van Creveld.

Common symptoms: Dwarfism, Polydactyly, Tooth abnormalities, facial disfigurement, heart defects, thoracic dysplasia and reduced levels of growth hormone.

Standard treatments: There is no treatment for the disorder, but some of the symptoms can be treated depending on what is affected and how severally. Doctors do suggest that people with history of EVC syndrome seek genetic counseling.

Current research: No current on going research was found.

References:

Ellis-van Creveld Syndrome. Sep. 29, 2014. Genetics Home Reference. Retrieved Oct. 4, 2014. http://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome

McKusick, V.A. (1986). # 225500 – ELLIS-VAN CREVELD SYNDROME; EVC. Online Mendelian Inheritance in Man. Retrieved Oct. 4, 2014. http://www.omim.org/entry/225500

Ellis-van Creveld Syndrome. University of Maryland Medical Center. Retrieved Oct. 4, 2014. http://umm.edu/health/medical/ency/articles/ellisvan-creveld-syndrome

Ellis Van Creveld Syndrome. National Organization for Rare Disorders, Inc. Retrieved Oct.4, 2014. https://www.myactivehealth.com/hwcontent/content/nord/nord902.html

Koelling, S., Clauditz, T.S., Kaste, M., & Miosge, N. (2006). Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis. Arthritis Research & Therapy, 8(3), 1-22. Retrieved from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1526624/

Alberts, J., & Johnson, A. (2008). Molecular Biology of The Cell (5th ed.). New York: Garland Science.

Gilbert SF. Developmental Biology. 6th edition. Sunderland (MA): Sinauer Associates; 2000. Paraxial Mesoderm: The Somites and Their Derivatives. Available from: http://www.ncbi.nlm.nih.gov/books/NBK10085/