Bone Health

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.

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 of Pediatrics, Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia
In 1940, Ellis and van Creveld formally described the syndrome that would bear their names, although they termed it chondroectodermal dysplasia. Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this autosomal recessive syndrome, which has increased incidence among persons of Old Order Amish descent.

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 cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle). Some patients are retarded. The largest pedigree was observed in Old Order Amish in Lancaster County, Pennsylvania and some cases were reported in Australian Aborigines." may cause or feature Symptoms and Signs Cleft palate Genu valgum Micromelia Nail abnormality Pectus carinatum Polydactyly Short stature Thoracic deformity Congenital conditions Cleft lip Cleft palate Cryptorchism (maldescended or ectopic testis) Hypodontia Hypospadias Talipes Cardiac and vascular conditions Atrial septal defect may be associated with Dandy-Walker syndrome

[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