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 affects those tissues of ectodermal (skin) and mesodermal (muscle, bone) origin.

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 syndrome (absence of ...

[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

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