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Development of the face takes place in early uterine life between 4-8 weeks which involves interaction of several cell populations and coordination, influenced by environmental factors and genetic pathways. Disruption of the cell signaling pathways with effects of environmental insults at any stage of early development may result in myriads of Syndromic or Nonsyndromic clefts in various forms as isolated or a combination of complex deformities Non Syndromic Cleft Lip is a frequent malformation of the facial region. Genetic variants with 36 patients of CL/P and 71 parents were enrolled in this study with written informed consent following ethical clearance from ethics committee of Gauhati Medical College. Family history of the patients were collected and were found that none of the patients had a positive family history of cleft Lip or palate. The study showed that group of cleft patients, maternal blood glucose levels, Vit B12 and Serum Folate levels were looked into, to see overall deficiency / excess in the study group in general, which may have influenced during the early pregnancy. 16 mothers using biomarkers were studied for serum folate level, B12 and type 2diabetes and birth weight of the child were recorded. Birth weight was found to be reasonably low in more than half of our patients. Studies using random blood glucose levels in the maternal blood and folate serum samples were within normal limits 88-110 mg/dl and 2.14ng/mL – 3.51 ng/Ml respectively. Study also suggests that Folate- folic acid deficiency may have a role in the origin of isolated cleft lip and/or cleft palate and it can be neutralized by the supplementation of Folic acid during the critical period of these two kinds of orofacial clefts. In order to assess the association of alleles for candidate gene TGFα with non-syndromic cleft lip and palate, DNA samples from 47 patients attending Gauhati Medical College and Hospital including parents were analyzed. TGFα TaqI gene has two alleles namely allele 1 and allele 2.

Key words: Syndromic and Non- Syndromic Cleft lip & palate, genetics, orofacial clefts, environmental factors, Transforming Growth factor Alpha.