Ellis–Van Creveld syndrome

and conical lower incisors 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) • Teeth present at birth (neonatal teeth) • Fingernail dysplasia • Short-limbed dwarfism, mesomelic pattern • Short ribs • Cleft palate • Malformation of the wrist bones (fusion of the hamate and capitate bones). ==Genetics==

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 by 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, Limbin, located close to the EVC gene in a head-to-head configuration. The gene was identified by positional cloning. The EVC gene maps to the chromosome 4 short arm (4p16). The function of a healthy EVC gene is not well understood at this time. Weyers acrofacial dysostosis is due to another mutation in the EVC gene and hence is allelic with Ellis–Van Creveld syndrome. ==Treatment==

There is no causative or curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopedic, dental or cardiac problems. Regarding perioperative / anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia. ==History==

The disorder was described by Richard W. B. Ellis (1902–1966) of Edinburgh and (1895–1971) of Amsterdam. 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). 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. Almost as many people were known in that one group as had been reported in all medical literature up to then. ==Nomenclature==

Six-fingered dwarfism (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish 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 because of the reference to the polydactyly, which is seen as a 'freakish' label. This leaves Ellis–Van Creveld syndrome with its initialism, EVC, as the only acceptable name. Chondroectodermal dysplasia and mesoectodermal dysplasia do not well define the entity and are not satisfactory for general usage, either medical or otherwise. ==References==