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Syndrome delineation involving orofacial clefting
1Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
Summary
The number of known syndromes associated with orofacial clefting has significantly increased over time, with over 300 identified today. Future research will likely uncover even more related disorders.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Dentistry
Background:
- Orofacial clefting is a common birth defect with diverse underlying causes.
- Syndromic forms of orofacial clefting are numerous and continue to be delineated.
- Understanding associated anomalies is crucial for diagnosis and management.
Purpose of the Study:
- To analyze the historical increase in the number of syndromes associated with orofacial clefting.
- To examine the frequency and spectrum of anomalies commonly found with orofacial clefting.
Main Methods:
- Comparative analysis of syndrome data from 1971, 1978, and 1990.
- Review of literature to determine frequencies of associated anomalies.
Main Results:
- A notable increase in the number of identified syndromes linked to orofacial clefting from 1971 to 1990.
- Wide variation in the reported frequencies of associated anomalies, likely due to ascertainment methods.
- Over 300 syndromes with orofacial clefting are currently recognized.
Conclusions:
- The number of known syndromes associated with orofacial clefting has grown substantially.
- Syndrome delineation is an ongoing process that will continue to expand the classification of these disorders.
- Further research is needed to standardize ascertainment methods and better understand associated anomalies.