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)^[37]
Beemer-Langer syndrome (type IV)
McKusick-Kaufmann syndrome
Asphyxiating thoracic dystrophy (Jeune syndrome)
Weyers acrofacial/acrodental dysostosis^[26] - 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.

Workup

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Media Gallery

Newborn with Ellis–van Creveld syndrome. Note the narrow chest.
Natal teeth and lip tie.
Postaxial polydactyly.
Newborn with Ellis–van Creveld syndrome. Note the narrow chest and disproportionate dwarfism.
Dutch growth charts for girls and boys. Adapted from Verbeek S, Eilers P, Lawrence K, Hennekam R, Versteegh F. Growth charts for children with Ellis–van Creveld syndrome. European J of Pediatrics. Feb 2011;170(2);207-277.

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Author

Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center

Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

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, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

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, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Ayala Laufer-Cahana, MD, to the original writing and development of this article.

Sections Ellis-van Creveld Syndrome
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Ellis-van Creveld Syndrome Differential Diagnoses

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