Ellis-van Creveld Syndrome Differential Diagnoses

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

Other short rib polydactyly syndromes include the following:

Polydactyly and hypodontia have been described in Weyers acrodental dysostosis, which is allelic with EVC and in trisomy 13. Weyers acrodental dysostosis is an autosomal dominant condition that is the heterozygous manifestation of the EVC gene; disproportionate dwarfism, heart defect, and thoracic dysplasia are not present.