eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Ellis-van Creveld Syndrome: Differential Diagnoses & Workup

Author: Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Contributor Information and Disclosures

Updated: Jun 30, 2009

Differential Diagnoses

Other Problems to Be Considered

  • 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.

Workup

Laboratory Studies

  • Sequencing of EVC and EVC2 identified mutations in two thirds of patients with Ellis-van Creveld (EVC) syndrome.1
  • Gene testing for mutational analysis of EVC and EVC2 is not currently available clinically (for up-to-date information on gene testing, see Gene Tests).

Imaging Studies

  • A skeletal survey is necessary to define skeletal anomalies. Expected findings include the following:
    • Acromesomelia (relative shortening of the distal and middle segment of the limbs) - Most prominent in the hands, where the distal and middle phalanges are shorter than the proximal phalanx
    • Polydactyly (ulnar side)
    • Multiple varieties of carpal fusion
    • Small iliac crests and sciatic notches (may be revealed on pelvic radiographs)
    • Valgus deformity of the knee
    • Fibula disproportionately smaller than the tibia
    • Thorax (short ribs, narrow)
    • Retarded bone maturation
    • Other findings - Fusion of the hamate and capitate bones of the wrist, cubitus valgus, hypoplastic cubitus, supernumerary carpal bone center, clinodactyly of the 5th finger
  • Chest radiography, ECG, and echocardiography (to evaluate cardiac anatomy) are indicated.
  • Head MRI may infrequently reveal brain anomalies.
  • Renal ultrasonography may infrequently reveal renal anomalies.

Other Tests

  • Consider eye examination to exclude eye anomalies, which have been infrequently described.

Histologic Findings

  • Disorganization of chondrocytes in the physeal growth zone of the long bones and vertebrae in the prenatal period and retardation of physeal growth zones in childhood

More on Ellis-van Creveld Syndrome

Overview: Ellis-van Creveld Syndrome
Differential Diagnoses & Workup: Ellis-van Creveld Syndrome
Treatment & Medication: Ellis-van Creveld Syndrome
Follow-up: Ellis-van Creveld Syndrome
Multimedia: Ellis-van Creveld Syndrome
References
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References

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Further Reading

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Keywords

Ellis-van Creveld syndrome, EVC syndrome, chondroectodermal dysplasia, disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, common atrium, small chest, congenital heart defects, thoracic dysplasia, skeletal malformations, cardiac murmur, heart failure, hypoplastic nails, dystrophic nails, anodontia, enamel hypoplasia, atrioventricular canal, ventricular septal defect, atrial septal defect, patent ductus arteriosus, hypospadias, epispadias, hypoplastic penis, cryptorchidism, vulvar atresia, focal renal tubular dilation in medullary region, nephrocalcinosis, renal agenesis, megaureters, respiratory insufficiency, treatment, diagnosis

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Contributor Information and Disclosures

Author

Harold Chen, MD, MS, FAAP, FACMG, Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center
Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Human Genetics, and Teratology Society
Disclosure: Nothing to disclose.

Medical Editor

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
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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 and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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