Abstract
Orofacial clefts (OFCs) are the most common congenital birth defects in humans and immediately recognized at birth. The etiology remains complex and poorly understood and seems to result from multiple genetic and environmental factors along with gene–environment interactions. It can be classified into syndromic (30%) and nonsyndromic (70%) clefts. Nonsyndromic OFCs include clefts without any additional physical or cognitive deficits. Recently, various genetic approaches, such as genome-wide association studies (GWAS), candidate gene association studies, and linkage analysis, have identified multiple genes involved in the etiology of OFCs.This article provides an insight into the multiple genes involved in the etiology of OFCs. Identification of specific genetic causes of clefts helps in a better understanding of the molecular pathogenesis of OFC. In the near future, it helps to provide a more accurate diagnosis, genetic counseling, personalized medicine for better clinical care, and prevention of OFCs.
Highlights
The familiarity of Orofacial clefts (OFCs) has long been noted, FoghAndersen was the first to provide the evidence for genetic factors contributing to the etiology of cleft lip and palate (CLP) from family-based studies where it was observed that the siblings of CLP patients had an increased frequency of cleft lip with or without cleft palate
This observation was further confirmed by studies on the familial distribution of congenital clefts of the lip and palate,34 and Dr Clark Fraser published a review paper highlighting the conclusions of a workshop on CLP sponsored by the National of Institutes of Health of the United States, and he mentioned the etiology is multifactorial
Scientific literature evidence suggests that environmental factors such as maternal tobacco smoking and alcohol consumption, antiepileptic medications, maternal folate deficiency, infections, consanguinity, and geographical location are risk factors for NS cleft lip and palate (NSCLP)
Summary
Orofacial clefts (OFC) are the most common congenital malformations in the orofacial region causing a significant personal and social encumbrance. The etiology remains complex involving multiple genetic and environmental factors along with gene–environment interactions. Children born with clefts may have difficulties in sucking, speech, hearing, and unaesthetic facial features due to the anatomical deformities. OFCs generally require surgical reconstruction of the lip and palate at different stages from birth to adulthood, and their rehabilitation involves a multidisciplinary approach such as, pediatric care, speech and hearing therapy, dental and orthodontic treatment, genetic counseling, and other mental health therapy.. The prevalence of OFCs ranges from 1 in 700 to 1,000 newborns worldwide and include cleft lip only (CLO), cleft palate only (CPO), and cleft lip and palate (CLP).14 They may occur as unilateral or bilateral, complete, or incomplete, and may involve the lip only, the palate only, or both.. In India, the incidence of clefts is around 1:800 to 1:1000, and three infants are born with some type of cleft every hour.. In India, the incidence of clefts is around 1:800 to 1:1000, and three infants are born with some type of cleft every hour.23 These differences appear to persist even after migration, suggesting that they are mediated by genetic, rather than environmental published online February 12, 2021. Cleft lip is more common in males at a 2:1 male to female ratio, whereas a cleft palate is more common in females. Approximately 90% of OFCs are unilateral with primarily left-sided involvement.
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