Ellis Van Creveld Syndrom (Subscribe)  

This rare skeletal dysplasia was first described in 1940 by Richard W. Ellis and Simon van Creveld who coined the term “Chondro-ectodermal dysplasia” to illustrate the main features of this condition: ectodermal involvement (skin, hair and nails), chondrodysplasia (cartilage and bone affected), polydactyly (extra fingers) and congenital heart defects. It...

short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. NORD Database

Synonyms and related keywords: Ellis-van Creveld syndrome, EVC syndrome, chondroectodermal dysplasia, disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, common atrium, small chest, congenital heart defects
Author: Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center
Coauthor: Ayala Laufer-Cahana, MD, Fellow, Department...

Ellis-van Creveld syndrome aka/or Mesoectodermal dysplasia aka/or Chondroectodermal dysplasia Definition "Chondrodysplasia of long bones affecting mainly the distal ends of extremities and resulting in short-limb dwarfism, hexadactyly of the fingers and less frequently the toes; ectodermal dysplasia with nail and hair abnormalities, and congenital heart defects. Associated abnormalities may include cryptorchidism, epispadias, talipes equinovalgus, and Dandy-Walker...

[URL too long for database use the bibliography link or copy the search string] Search string "Ellis-Van Creveld Syndrome"[MAJR] orthopaedic (4 articles Nov 2006) URL http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%22Ellis-Van%20Creveld%20Syndrome%22%5BMAJR%5D%20AND%20%28orthopedic%5BText%20Word%5D%20OR%20%28%22orthopedics%22%5BTIAB%5D%20NOT%20Medline%5BSB%5D%29%20OR%20%22orthopedics%22%5BMeSH%20Terms%5D%20OR%20orthopaedic%5BText%20Word%5D%29

Search String "Ellis-Van Creveld Syndrome"[MAJR] URL http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&term=%22Ellis%2DVan+Creveld+Syndrome%22%5BMAJR%5D