JOURNAL ARTICLE

Ellis-Van Creveld (EVC) syndrome: A rare case report.

  • Published In: Our Dermatology Online / Nasza Dermatologia Online, 2025, v. 16, n. 1. P. 84 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Rather, Shagufta; Sajjad, Kurat; Malik, Nazim 3 of 3

Abstract

Ellis-Van Creveld (EVC) syndrome is a rare autosomal recessive ciliopathic disorder characterized clinically by short stature, bilateral postaxial polydactyly, bone abnormalities, retarded growth, ectodermal, and congenital heart defects. The disorder arises from the mutation of the EVC and EVC 2 genes located on the 4p16 chromosome. More than 300 cases of EVC have been recorded in the literature, with an estimated prevalence of the condition being 7 per 100,000. Herein, we present the rare case of a twelve-year-old male child diagnosed with EVC syndrome, based on oral manifestations, polydactyly, and nail dystrophy. [ABSTRACT FROM AUTHOR]

Additional Information

  • Source:Our Dermatology Online / Nasza Dermatologia Online. 2025/01, Vol. 16, Issue 1, p84
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2025
  • ISSN:2081-9390
  • DOI:10.7241/ourd.20251.17
  • Accession Number:182336816
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