Ellis-Van Creveld syndrome
2007
Ellis-Van Creveld Syndrome Overview
Sample size: 150
publication
Evidence: moderate
Author Information
Author(s): Geneviève Baujat, Martine Le Merrer
Primary Institution: Centre de Référence des Maladies Osseuses Constitutionnelles, Hôpital Necker-Enfants Malades, Paris, France
Conclusion
Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short stature, polydactyly, and congenital heart defects, primarily affecting the Amish community.
Supporting Evidence
- EVC is a rare disease with approximately 150 cases reported worldwide.
- Congenital heart defects occur in about 60% of individuals with EVC.
- The syndrome is inherited as an autosomal recessive trait with variable expression.
- Prenatal abnormalities may include narrow thorax and cardiac defects.
Takeaway
Ellis-Van Creveld syndrome is a rare condition that makes people shorter and can cause extra fingers and heart problems.
Limitations
The exact prevalence of the syndrome is unknown, and many cases may be misdiagnosed or not reported.
Participant Demographics
The syndrome is more common among the Amish community.
Digital Object Identifier (DOI)
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