Ellis-van Creveld Syndrome Differential Diagnoses

Updated: Nov 06, 2017
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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DDx

Diagnostic Considerations

Ellis-van Creveld (EVC) syndrome is part of the short rib-polydactyly (SRP) group. SRPs are autosomal recessive disorders characterized by a hypoplastic thorax due to short ribs, shortened limbs, polydactyly, and visceral abnormalities. Findings made using prenatal diagnostic tools allow for prenatal discussion of these syndromes. Other SRP syndromes include the following:

  • Saldino-Noonan syndrome (type I)
  • Majewski syndrome (type II)
  • Verma-Naumoff syndrome (type III) [34]
  • Beemer-Langer syndrome (type IV)
  • McKusick-Kaufmann syndrome
  • Weyers acrofacial/acrodental dysostosis [25]  - Polydactyly and hypodontia have been described in Weyers dysostosis, which is allelic with EVC and in trisomy 13. Weyers dysostosis is an autosomal dominant condition that is the heterozygous manifestation of the EVC gene (located at 4p16.2). Unlike in EVC syndrome, disproportionate dwarfism, heart defect, and thoracic dysplasia are not present.