eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Ellis-van Creveld Syndrome: Follow-up

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
Contributor Information and Disclosures

Updated: Jun 30, 2009

Follow-up

Prognosis

  • Approximately 50% of patients with Ellis–van Creveld (EVC) syndrome die in early infancy as a consequence of cardiorespiratory problems. Most survivors have intelligence in the normal range.
  • Final adult height is 43-60 inches.
  • Usually, some limitation of hand function is observed, such as inability to form a clenched fist.
  • Dental problems are frequent.
  • End-organ involvement may include the following:15
    • Renal involvement including nephrotic syndrome, nephronophthisis, and renal failure19,20,21
    • Hepatic involvement, including a congenital paucity of bile ducts that leads to progressive fibrosis and hepatic failure19,22
    • Hematologic involvement ranges from myelodysplastic changes with dyserythropoiesis to acute leukemia23,24

Patient Education

  • The following organizations may provide helpful information for patients and their families:
    • Ellis-van Creveld Support Group
      17 Bridlewood Trail
      Honeoye Falls, NY 14472
      Telephone: 716-624-8277 or 800-644-6735
      email: olesik@juno.com
    • The National Institutes of Health maintains a Web site for the Office of Rare Diseases.

Miscellaneous

Medicolegal Pitfalls

  • Failure to identify Ellis–van Creveld (EVC) syndrome anomalies on prenatal ultrasonography: Guidelines for prenatal diagnosis of genetic conditions have been established by the American Academy of Pediatrics.25
  • Failure to inform parents of the 25% recurrence risk and offer prenatal diagnosis for future pregnancies
  • Failure to fully evaluate the affected patient for cardiac anomalies

Special Concerns

  • Genetic counseling
    • Recurrence risk to patient's siblings is 25%.
    • Recurrence risk to patient's offspring is not increased unless the spouse is a carrier, especially in a consanguineous marriage.
  • Prenatal diagnosis
    • Fetoscopy may be performed to visualize the fetus with postaxial polydactyly, short distal limbs, and postaxial polydactyly. Fetoscopy is an invasive procedure and is seldom used currently.
    • level II ultrasonography after 18 weeks' gestation is used to reveal a narrow chest, postaxial polydactyly, short limbs (especially of middle and distal segments), and a single atrium.26,27 Fetal echocardiography is used in conjunction to delineate fetal cardiac pathologies.
    • Increased first-trimester fetal nuchal translucency thickness in association with Ellis–van Creveld syndrome has been described at 13 weeks' gestation.27
    • Molecular genetic testing by amniocentesis or chorion villi biopsy, using linked microsatellite markers flanking the EVC locus, provided the linked markers have been established in the family with a previously affected sibling. Prenatal diagnosis can also be established using mutation analysis of EVC gene from fetal DNA.
 
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.



More on Ellis-van Creveld Syndrome

Overview: Ellis-van Creveld Syndrome
Differential Diagnoses & Workup: Ellis-van Creveld Syndrome
Treatment & Medication: Ellis-van Creveld Syndrome
Follow-up: Ellis-van Creveld Syndrome
Multimedia: Ellis-van Creveld Syndrome
References
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References

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Further Reading

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Keywords

Ellis-van Creveld syndrome, EVC syndrome, chondroectodermal dysplasia, disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, common atrium, small chest, congenital heart defects, thoracic dysplasia, skeletal malformations, cardiac murmur, heart failure, hypoplastic nails, dystrophic nails, anodontia, enamel hypoplasia, atrioventricular canal, ventricular septal defect, atrial septal defect, patent ductus arteriosus, hypospadias, epispadias, hypoplastic penis, cryptorchidism, vulvar atresia, focal renal tubular dilation in medullary region, nephrocalcinosis, renal agenesis, megaureters, respiratory insufficiency, treatment, diagnosis

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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 Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

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: Radiation Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, 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.

 
 
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