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Updated: Jul 26, 2025
09:26
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
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Genetics and orofacial clefts: a clinical perspective.
1Oxford Centre for Genomic Medicine, Oxford University Hospitals, UK; Spires Cleft Service, Oxford University Hospitals, UK; NDCLS, Radcliffe Department of Medicine, University of Oxford, United Kingdom. usha.kini@ouh.nhs.uk.
British Dental Journal
|June 22, 2023
Summary
Orofacial clefts (OFCs) are common birth defects. Genetic testing and genomics services are crucial for understanding their causes and benefiting affected families.
Area of Science:
- Genetics
- Craniofacial Anomalies
- Medical Genomics
Background:
- Orofacial clefts (OFCs) represent the most frequent congenital craniofacial anomaly in humans.
- The majority of OFCs are sporadic and isolated, suggesting multifactorial origins.
- Syndromic and some non-syndromic inherited OFCs are linked to chromosomal and monogenic variants.
Conclusions:
- Genetic testing is essential for a comprehensive understanding of orofacial clefts.
- Implementing robust genomics services improves patient and family outcomes.
- Advancements in genetic technologies enhance diagnostic capabilities for craniofacial anomalies.
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