Ellis-van Creveld Syndrome Treatment & Management

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

Medical Care

  • The management of Ellis–van Creveld (EVC) syndrome is multidisciplinary.
  • Care for respiratory distress, recurrent respiratory infections, and cardiac failure is supportive.
  • Dental care in childhood includes the following:
    • Neonatal teeth should be removed because they may impair feeding.
    • Prevention of caries includes dietary counseling, plaque control, and oral hygiene instruction.
    • Crown or composite build-ups for microdonts may be indicated.
    • Partial dentures can maintain space and improve mastication, esthetics, and speech due to congenitally missing teeth.
    • Orthodontic treatment is needed for bone deformity, especially knee valgus with depression of the lateral tibial plateau and dislocation of the patella.[16]
  • For dental care during adulthood, implants and prosthetic rehabilitation are required to replace congenitally missing teeth.
  • Short stature is considered resulting of chondrodysplasia of the legs and the possible treatment with growth hormone is considered ineffective, unless the patient is also deficient in growth hormone.[17, 3]
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Surgical Care

  • Orthopedic procedures correct polydactyly and other orthopedic malformations.
  • Cardiac surgery may be needed to correct cardiac anomalies.
  • Thoracic expansion has been attempted in some patients.
  • Dental care is usually necessary.
  • Urologic surgery is required if epispadias, cryptorchidism, or both are present.
  • Perioperative morbidity may result from difficulties with airway management and pulmonary abnormalities.[18]
    • Although these concerns are less common than congenital heart disease, abnormalities leading to difficulties in airway management include cleft lip and palate and orodental malformations.[19, 20]
    • Frenulae, or fusions between the inner upper lip and gum, as well as maxillary or mandibular deformities, may lead to difficulties in bag-valve-mask ventilation and should be identified during the preoperative evaluation.
    • Dental abnormalities, such as peg teeth or natal teeth, may be more prone to dislodgement during airway instrumentation.
    • A single report describes a patient with Ellis–van Creveld syndrome who presented with congenital stridor related to a cyst involving the neck and airway.[21]
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Consultations

  • Clinical geneticist
  • Cardiologist
  • Pulmonologist
  • Orthopedist
  • Urologist
  • Physical and occupational therapist
  • Dentist
  • Psychologist
  • Developmental pediatrician (if developmental delay is present)
  • Pediatric neurologist (if developmental delay is present)
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Diet

  • No special diet is required unless cardiac failure necessitates dietary restrictions.
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Activity

  • Activities may be limited secondary to cardiorespiratory status or skeletal anomalies.
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Proceed to Medication
 
 
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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