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Ellis-van Creveld syndrome

Ellis-van Creveld syndrome
Classification & external resources
Polydactyly in Ellis-van Creveld syndrome
ICD-10 Q77.6
ICD-9 756.55
OMIM 225500
DiseasesDB 29309
MedlinePlus 001667
eMedicine ped/660 
MeSH D004613

Ellis-van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia) is a rare genetic disorder of the skeletal dysplasia type.



It involves numerous anomalies including post-axial polydactyly, congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals), pre-natal tooth eruption, fingernail dysplasia, short-limbed dwarfism, short ribs, partial hare-lip, and malformation of the wrist bones (fusion of the hamate and capitate bones).



Ellis-van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability. Observation of the inheritance pattern has illustrated that the disease is autosomal recessive, meaning that both parents have to carry the gene in order for an individual to be affected with to the disorder.

Ellis-van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, located close to the EVC gene in a head-to-head configuration. By positional cloning, the gene was identified.[1] The EVC gene maps to the chromosome 4 short arm. The function of a healthy EVC gene is not well understood at this time.


The disorder was described by Richard W. B. Ellis (1902-1966) of Edinburgh and Simon van Creveld (1895-1971) of Amsterdam.[2] Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s. A third patient had been referred to by L. Emmett Holt, Jr. and Rustin McIntosh in a textbook of pediatrics (Holt and McIntosh, 1933) and was included in full in the paper by Ellis and van Creveld (1940). [3]

McCusick et al.(1964) followed up with a study of its incidence in the Amish population. He observed the largest pedigree so far, in an inbred religious isolate, the Old Order Amish, in Lancaster County, Pennsylvania.[4] Almost as many persons were known in this one kindred as had been reported in all the medical literature up to that time.


'Six-fingered dwarfism' ('digital integer deficiency') was an alternative designation used for this condition when it was being studied in the Amish[4] and may have served a useful function in defining this then little known condition for the medical profession, as well as the lay public. The term, however, has been found offensive by some, apparently not because of 'dwarfism,' but because of the reference to the polydactyly, which is seen as a 'freakish' labeling. For this reason, 6-fingered dwarfism has been removed as an alternative name for this entry. This leaves Ellis-van Creveld syndrome with its felicitous abbreviation, EVC, as the only satisfactory designation. Chondroectodermal dysplasia and mesoectodermal dysplasia do not well define the entity and are not satisfactory for general usage, either medical or lay.


  1. ^ Ruiz-Perez VL, Ide SE, Strom TM, et al (2000). "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis". Nat. Genet. 24 (3): 283-6. doi:10.1038/73508. PMID 10700184.
  2. ^ synd/1114 at Who Named It
  3. ^ Ellis, R. W. B.; van Creveld, S.: A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases. Arch. Dis. Child. 15: 65-84, 1940.
  4. ^ a b McKusick, V. A.; Egeland, J. A.; Eldridge, R.; Krusen, D. E. (1964). "Dwarfism in the Amish. I. The Ellis-van Creveld syndrome". Bulletin of the Johns Hopkins Hospital 115: 306-36. PMID 14217223.
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Ellis-van_Creveld_syndrome". A list of authors is available in Wikipedia.
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