eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Ellis-van Creveld Syndrome: Treatment & Medication

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

Treatment

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.13
  • 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.14,3

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.15
    • 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.16,17
    • 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.18

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)

Diet

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

Activity

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

Medication

  • Specific drug therapy is not currently a component of the standard of care for Ellis–van Creveld (EVC) syndrome. Treat systemic sequelae as needed (see Treatment).

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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  2. McKusick VA. Ellis-van Creveld syndrome and the Amish. Nat Genet. Mar 2000;24(3):203-4. [Medline].

  3. Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2007;2:27. [Medline].

  4. Blackburn MG, Belliveau RE. Ellis-van Creveld syndrome. A report of previously undescribed anomalies in two siblings. Am J Dis Child. Sep 1971;122(3):267-70. [Medline].

  5. Fryns JP. Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome?. Am J Med Genet. Jun 15 1991;39(4):500-1. [Medline].

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  8. Ruiz-Perez VL, Ide SE, Strom TM, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. Mar 2000;24(3):283-6. [Medline].

  9. Ruiz-Perez VL, Ide SE, Strom TM, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genet. 2000;24:283-286.

  10. Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Hum Genet. Mar 2006;119(1-2):199-205. [Medline].

  11. Howard TD, Guttmacher AE, McKinnon W, et al. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet. Dec 1997;61(6):1405-12. [Medline].

  12. Galdzicka M, Patnala S, Hirshman MG, et al. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. Dec 2002;77(4):291-5. [Medline].

  13. Shibata T, Kawabata H, Yasui N, et al. Correction of knee deformity in patients with Ellisvan Creveld syndrome. J Pediatr Orthop B. 1999;8:282-284.

  14. Pirazzoli P, Mazzanti L, Mandini M, Cau M, Ravagli L, Cacciari E. GH-deficiency in Ellis-van-Crefeld Syndrome: response to remplacementtherapy. Growth Abnormalities. 1989;56:391-3.

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  18. Digoy GP, Greenberg M, Magit A. Congenital stridor secondary to an upper airway cyst in a patient with Ellis-van Creveld syndrome. Int J Pediatr Otorhinolaryngol. Oct 2005;69(10):1433-5. [Medline].

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  27. Venkat-Raman N, Sebire NJ, Murphy KW, Carvalho JS, Hall CM. Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome). Ultrasound Obstet Gynecol. Apr 2005;25(4):412-4. [Medline].

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  31. Dugoff L, Thieme G, Hobbins JC. First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound. Ultrasound Obstet Gynecol. Jan 2001;17(1):86-8. [Medline].

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  33. Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. Dec 2002;77(4):291-5. [Medline].

  34. Ide SE, Ortiz de Luna RI, Francomano CA, Polymeropoulos MH. Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. Hum Genet. Nov 1996;98(5):572-5. [Medline].

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  41. Qureshi F, Jacques SM, Evans MI, et al. Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). Am J Med Genet. Feb 15 1993;45(4):471-6. [Medline].

  42. Rosemberg S, Carneiro PC, Zerbini MC, Gonzalez CH. Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract. Am J Med Genet. Jun 1983;15(2):291-5. [Medline].

  43. Sergi C, Voigtlander T, Zoubaa S, et al. Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification. Pediatr Radiol. Apr 2001;31(4):289-93. [Medline].

  44. Tompson SW, Ruiz-Perez VL, Wright MJ, Goodship JA. Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4. J Med Genet. Jun 2001;38(6):E18. [Medline].

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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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