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Ellis-Van Creveld Syndrome
Definition: Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

Synonym(s): Chondroectodermal Dysplasia / Chondroectodermal Dysplasias / Dysplasia, Chondroectodermal / Dysplasias, Chondroectodermal / Ellis Van Creveld Syndrome / Syndrome, Ellis-Van Creveld
See also:
Cartilage Diseases   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Ellis-van Creveld syndrome?
Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in short stature (dwarfism). People with this condition have particularly short forearms and lower legs and short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), unusually formed nails and teeth, and heart defects.

How common is Ellis-van Creveld syndrome?
In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in 60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence because the disorder is very rare in the general population. This condition is much more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the indigenous population of Western Australia.


More information from the Genetics Home Reference Website
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  Web resources for "Ellis-Van Creveld Syndrome"
  English (7)            

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the robot description of the site Orphanet Journal of Rare Diseases | Full text | Ellis-Van Creveld syndromewww.ojrd.com  
view the HON description of the site HONcode - Ellis-van Creveld syndrome - Genetics Home Referenceghr.nlm.nih.gov 3
view the HON description of the site HONcode - Ellis-van Creveld syndrome: MedlinePlus Medical Encyclopediawww.nlm.nih.gov  
view the robot description of the site Whonamedit - Ellis-van Creveld syndromewww.whonamedit.com  
view the HON description of the site HONcode - Orphanet: Ellis Van Creveld syndromewww.orpha.net 3
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org 2
view the robot description of the site Ellis-van Creveldwww.ellisvancreveld.co.uk 2
 
 

See also: - Cartilage Diseases

Broader term(s): - Osteochondrodysplasias - Bone Diseases, Developmental - Bone Diseases - Musculoskeletal Diseases - Ectodermal Dysplasia - Abnormalities, Multiple - Congenital Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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  Medical image(s) for "Ellis-Van Creveld Syndrome"
click below to enlargeGenes and disease - Ellis-van Creveld syndrome
www.ncbi.nlm.nih.gov
Copyright © National Center for Biotechnology Information Genes and disease - Ellis-van Creveld syndrome
click below to enlargePolydactyly and nail hypoplasia in an infant with Ellis van Creveld syndrome
medgen.genetics.utah.edu
Medical Genetics: 2nd Edition Polydactyly and nail hypoplasia in an infant with Ellis van Creveld syndrome
Copyright © Lynn B. Jorde, PhD; John C. Carey, MD; Michael J. Bamshad, MD; and Raymond L. White, PhD
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  Medical News for "Ellis-Van Creveld Syndrome"
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Broader term(s): - Congenital Abnormalities

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  Scientific articles from MEDLINE for "Ellis-Van Creveld Syndrome"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Ellis-Van Creveld Syndrome"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Skin and Connective Tissue Diseases
              Skin Diseases
                  Skin Diseases, Genetic
                      Ectodermal Dysplasia 
                  Skin Abnormalities
                      Ectodermal Dysplasia 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Skin Diseases, Genetic
                      Ectodermal Dysplasia 
              Congenital Abnormalities
                  Skin Abnormalities
                      Ectodermal Dysplasia 
                  Abnormalities, Multiple
                      Ectodermal Dysplasia 
      Diseases
          Musculoskeletal Diseases
              Bone Diseases
                  Bone Diseases, Developmental
                      Osteochondrodysplasias 

MeSH 2010 © U.S. National Library of Medicine®.

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