Ellis–van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see ‘Nomenclature’ section below) is a rare genetic disorder of the skeletal dysplasia type. 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.
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 (natal teeth)
• Fingernail dysplasia
• Short-limbed dwarfism, mesomelic pattern
• Short ribs
• Cleft palate
• Malformation of the wrist bones (fusion of the hamate and capitate bones).
The disorder was described by Richard W. B. Ellis (1902–1966) of Edinburgh and Simon van Creveld (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 persons were known in this one kindred as had been reported in all the medical literature up to that time.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. The gene was identified by positional cloning. The EVC gene maps to the chromosome 4 short arm. The function of a healthy EVC gene is not well understood at this time.
There is no causative / curative therapy. Symptomatic medical treatments are focussing on symptoms caused by orthopaedic, dental or cardiac problems. Regarding perioperative /anesthesiological management, recommendations for medical professionals are published at OrphanAnesthesia
By – Clinical Instructor – Ms. Deepali Rawat
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