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Genetics of cleft lip and palate revisited
Puneet Batra1, Ritu Duggal, Hari Parkash
1Division of Orthodontics, Department of Dental Surgery, All India Institute of Medical Sciences, New Delhi, India.
Insights
Cleft lip and palate (CL/P) genetics are complex, with inconsistent findings from previous studies. This review clarifies syndromic vs. non-syndromic clefting and etiological variations for better dental diagnosis and genetic counseling.
Area of Science:
- Medical Genetics
- Developmental Biology
- Dental Science
Background:
- Cleft lip with or without cleft palate (CL/CP) is a common birth defect requiring extensive multidisciplinary treatment.
- Genetic studies for CL/CP susceptibility loci have yielded inconsistent results, suggesting underestimated complexity in facial development.
- The growing list of candidate genes necessitates systematic screening methods to validate their involvement.
Purpose of the Study:
- To inform dentists about the distinctions between syndromic and non-syndromic clefts.
- To elucidate the etiological variations in cleft lip and palate.
- To enhance dentists' diagnostic capabilities and genetic counseling for CL/CP patients and families.
Main Methods:
- Systematic review of existing literature on CL/CP genetics and etiology.
- Analysis of syndromic versus non-syndromic clefting patterns.
- Evaluation of current genetic screening techniques and their limitations.
Main Results:
- The genetic basis of CL/CP is highly complex, involving intricate interactions in facial development.
- Distinguishing between syndromic and non-syndromic clefts is crucial for accurate diagnosis and prognosis.
- Current genetic association studies face challenges due to heterogeneity and polygenic inheritance.
Conclusions:
- Dentists play a vital role in the early diagnosis and management of CL/CP.
- Understanding etiological variations aids in providing precise genetic counseling to families.
- Further research employing robust, systematic screening is needed to unravel the complex genetic architecture of CL/CP.
Abstract:
Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects with treatment including multiple surgeries speech therapy, and dental and orthodontic treatments over the first 18 years of life. Providing care for these patients and families includes educating patients and parents about the genetics of CL/CP, as well as meeting the immediate medical needs. Attempts at identifying susceptibility loci via family and case-control studies have proved inconsistent. It is likely that initial predictions of the complex interactions involved in facial development were underestimated. The candidate gene list for CL/P is getting longer and the need for an impartial systematic screening technique, to implicate or refute the inclusion of particular loci, is apparent. So we are faced with the question "Can this complex trait be too complex?" The aim of this review is to make the dentist aware of the differences between syndromic and non-syndromic cleft as well as understanding the etiological variation in cleft lip with and without cleft palate. This will aid the dentist in diagnosis and give proper genetic counseling to parents and patients of cleft lip and palate.
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