Ellis-van Creveld Syndrome 

  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 11, 2011
 

Background

Richard W.B. Ellis of Edinburgh and Simon van Creveld of Amsterdam first described Ellis–van Creveld (EVC) syndrome. They met in a train compartment while traveling to a pediatrics conference in England in the late 1930s and discovered that each had a patient with the syndrome. In 1940, Ellis and van Creveld (Ellis and van Creveld, 1940) formally described the syndrome that would bear their names, although they termed it chondroectodermal dysplasia.

Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this autosomal recessive syndrome, which has increased incidence among persons of Old Order Amish descent. See the images below.

Newborn with Ellis–van Creveld syndrome. Note the Newborn with Ellis–van Creveld syndrome. Note the narrow chest. Postaxial polydactyly. Postaxial polydactyly. Newborn with Ellis–van Creveld syndrome. Note the Newborn with Ellis–van Creveld syndrome. Note the narrow chest and disproportionate dwarfism. Natal teeth and lip tie. Natal teeth and lip tie.
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Pathophysiology

  • Pathophysiology is unknown; however, recent identification of the EVC gene should lead to a better understanding.[1]
  • Histopathologic examination of fetuses with Ellis–van Creveld syndrome revealed that the cartilage of long bones showed chondrocyte disorganization in the physeal growth zone. Variable chondrocyte disorganization was seen in the central physeal growth zone of the vertebrae.
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Epidemiology

Frequency

United States

  • In the general population, the frequency is 1 case per 60,000 live births.
  • Among persons from the Old Order Amish, the incidence is estimated at 5 cases per 1000 live births.[2]
  • The frequency of carriers in this population may be as high as 13%.

Mortality/Morbidity

  • Thoracic dysplasia leads to respiratory insufficiency and cardiac anomalies lead to death in infancy in 50% of patients.
  • Patients who survive infancy have a normal life expectancy.

Race

  • The highest frequency of Ellis–van Creveld syndrome is seen in one particular inbred population, the Old Order Amish community in Lancaster County, Pennsylvania, where the largest pedigree has been described (52 cases in 30 sibships).[2]
  • Among the Amish, the abnormal gene can be traced to the immigrants Samuel King and his wife, whose identity is not known.
  • No other ethnic group has a high incidence of Ellis–van Creveld syndrome.

Sex

  • Frequency of Ellis–van Creveld syndrome is equal in males and females.

Age

  • In patients with Ellis–van Creveld syndrome, physical findings, such as disproportionate extremities, small stature, polydactyly, cardiac defects, and minor dysmorphic features, are seen at birth.
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Contributor Information and Disclosures
Author

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael Fasullo, PhD  Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: American Society for Biochemistry and Molecular Biology, Environmental Mutagen Society, Genetics Society of America, and Radiation Research Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Ayala Laufer-Cahana, MD, to the original writing and development of this article.

References

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Newborn with Ellis–van Creveld syndrome. Note the narrow chest.
Natal teeth and lip tie.
Postaxial polydactyly.
Newborn with Ellis–van Creveld syndrome. Note the narrow chest and disproportionate dwarfism.
Dutch growth charts for girls and boys. Adapted from Verbeek S, Eilers P, Lawrence K, Hennekam R, Versteegh F. Growth charts for children with Ellis–van Creveld syndrome. European J of Pediatrics. Feb 2011;170(2);207-277.
 
 
 
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