Ellis-Van Creveld syndrome

Ellis-Van Creveld Syndrome

Ellis-Van Creveld syndrome (EVC) is a rare genetic disorder characterized by a distinctive combination of skeletal, dental, and cardiac anomalies. It is also known as chondroectodermal dysplasia.

History

Ellis-Van Creveld syndrome was first described in 1940 by Richard W. B. Ellis and Simon van Creveld, who identified the condition in a series of patients with similar clinical features.

Genetics

EVC is an autosomal recessive disorder caused by mutations in the EVC and EVC2 genes, which are located on chromosome 4p16. These genes are involved in the development of bone and other tissues.

Clinical Features

The syndrome is characterized by:

• Skeletal abnormalities:

 * Short stature due to disproportionate shortening of the limbs (dwarfism)
 * Polydactyly (extra fingers or toes), often involving the fifth finger or toe
 * Short ribs and narrow thorax, which can lead to respiratory difficulties

• Dental anomalies:

 * Abnormal tooth development, including natal teeth (teeth present at birth)
 * Delayed eruption of teeth

• Cardiac defects:

 * Congenital heart defects, such as atrial septal defect (ASD) or ventricular septal defect (VSD)

• Other features:

 * Nail dysplasia
 * Oral frenula (abnormal bands of tissue in the mouth)

Diagnosis

Diagnosis of Ellis-Van Creveld syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the EVC or EVC2 genes. Prenatal diagnosis is possible through genetic testing if the mutations are known in the family.

Management

Management of EVC is symptomatic and supportive, focusing on:

• Surgical correction of polydactyly and cardiac defects
• Orthopedic interventions for skeletal abnormalities
• Dental care for managing dental anomalies
• Respiratory support if needed

Epidemiology

Ellis-Van Creveld syndrome is a rare condition, with a higher prevalence in certain populations, such as the Old Order Amish community, due to a founder effect.

See Also

• Dwarfism
• Congenital heart defect
• Genetic disorder

References

• Ellis, R. W. B., & van Creveld, S. (1940). "A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital heart disease." Archives of Disease in Childhood, 15(82), 65-84.
• McKusick, V. A., & Egeland, J. A. (1964). "Ellis-Van Creveld syndrome (chondroectodermal dysplasia)." American Journal of Human Genetics, 16(4), 389-399.