Ellis-van Creveld Syndrome Follow-up

Updated: Apr 21, 2015
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Maria Descartes, MD  more...
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Follow-up

Prognosis

See the list below:

  • 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.
  • The growth chart developed by Verbeek et al (2011) should be useful in the follow-up of EVC patients. Most importantly, early detection of growth hormone deficiency, known to occur in EVC syndrome, is facilitated. [29]
  • 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: [25]
    • Renal involvement including nephrotic syndrome, nephronophthisis, and renal failure [30, 31, 32]
    • Hepatic involvement, including a congenital paucity of bile ducts that leads to progressive fibrosis and hepatic failure [30, 33]
    • Hematologic involvement ranges from myelodysplastic changes with dyserythropoiesis to acute leukemia [34, 35]
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Patient Education

See the list below:

  • 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.
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