Ellis–Van Creveld syndrome (also called mesoectodermal dysplasia) is a rare genetic disorder of the skeletal dysplasia type.

Signs and symptoms

thumb|upright|Patient with Ellis–Van Creveld syndrome at the age of 5 years showing long narrow chest and shortness of the limbs

thumb|upright|Anterior view of the mouth of EVC patient showing absence of upper [[Incisor|incisors 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

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.