Ellis-van Creveld Syndrome

Synonyms: Chondroectodermal Dysplasia, EVC

Ellis-Van Creveld Dysplasia
Source/Author: Scott, Charles; Alfred I. duPont Hospital for Children/Nemours
Medical Review
Excellent overview of achondroplasia including: how it happens, its genetics, physical features, diagnosis, medical management, etc.

Ellis van Creveld
Source/Author: Ayala Laufer-Cahana, MD, E-medicine 
Web-based (medical)
Detailed description of EVC

Ellis van Creveld
Source/Author: OMIM, Online Mendelian Inheritance in Man 
Web-based (medical)
Medical/Scientific description of Ellis van Creveld syndrome with emphasis on the genetics of the condition

Ellis van Creveld syndrome
Source/Author: National Organization of Rare Diseases Very brief description of the clinical features/characteristics, medical complications and genetics of this condition.

Ellis Van Creveld syndrome
Source/Author: Baujat G, Le Merrer M. Overview of the condition, scientific citations, clinical features, management and progrnosis.

Ellis-van Creveld
Source/Author: Parent of boy with EvC 
Web-based (lay)
Web site for parents of individuals with EvC - informational and support.

Ellis-van Creveld (EvC) syndrome
Source/Author: Jablonski Syndromes Database 
Web-based (medical)
Summary, clinical features, and medical bibliography.

First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.
Source/Author: Dugoff L, Thieme G, Hobbins JC. 
Full text
Medical journal article on the diagnosis of EvC by ultrasound early in pregnancy.

Genetics (of EvC)
Source/Author: Kate Lawrence 
Web-based (medical)
Excellent overview of the genetics of this condition

Growth hormone analysis and treatment in Ellis-van Creveld syndrome.
Source/Author: Versteegh FG, Buma SA, Costin G, de Jong WC, Hennekam RC; EvC Working Party. 
Full text
Medical journal article discussing the benefits of growth hormone treatment in EvC.

Medical Stuff (for EvC)
Source/Author: Kate Lawrence 
Support Group
Articles of the medical complications of EvC (cardiology, dentistry, respiratory, plastic surgery and orthopaedics)

Natural History: Ellis-van Creveld
Source/Author: Richard M. Pauli, M.D., Ph.D.
Medical Review
Review of the various medical complications that can occur with EvC and discussion on what is appropriate for monitoring and interventions. Written in medical terms. Originals can be ordered from the Midwest Bone Dysplasia Clinic.