**Abstract**

Genetic screening, counseling, and mapping play a vital role in identification of mutant genes/chromosomes, thereby preventing the progression of the disease in craniofacial anamolies, head and neck cancer in susceptible patients. Stem cells have a wide application in treating autoimmune diseases and systemic diseases, craniofacial anomalies, head and neck cancers, esthetic and reconstructive surgery, etc. At large, surgery has been the mainstay of treatment in both disease varieties. Targeted therapies with genetic engineering and stem cell transplantation go hand in hand for improving the prognosis of these diseases to a phenomenal extent. The identification of the disease at the level of chromosomal mutation stem cell therapy in conjunction with surgery is a suitable option to obtain satisfactory results in both the disease entities. This methodical combination aids in correction of the relapse and recurrence in craniofacial anomalies as well as head and neck cancers. This chapter projects and encourages insight into the perspective approach and the importance of combining whole genome sequencing and mapping along with stem cell therapy along with the conventional treatment modalities in treatment of craniofacial deformities, head and neck neoplasms with the right timing and proper case selection to appreciate better results.

**Keywords:** craniofacial anomalies, head and neck cancer, gene mutations and sequencing, stem cell therapy, craniofacial diseases and syndromes

### **1. Introduction**

Craniofacial malformations occur due to the result of an infant's skull or facial bones fusing together very early or in an abnormal way. When the cranial bones fuse together too early, the brain gets conducive in the cranial vault and cannot expand properly due to inadequate space, which causes infant to develop craniofacial deformities and neurological problems. Craniofacial defects like cleft lip and palate, craniosynostosis/syndromes may occur because of congenital anamoly, injury or tumor.

Genetic screening and counseling imparts an immense role in the identification of the causative gene that is responsible for the mutations in craniofacial anomalies through the gene mapping and whole genomic sequencing methods which also helps in controlling the run over of the craniofacial anomalies in future generation among the affected family members. Further step ahead, genetic engineering helps to identify and correct the genetic mutations so as to plan the treatment for the affected patient on a long term basis, to give a better quality of life.

Surgery remains the treatment of choice in correction of craniofacial deformities as well as in reconstruction of craniofacial defects. Genetics and tissue engineering through stem cells have contributed in identification of gene mutations in craniofacial anomalies/syndromes and in their treatment through autologous bone grafting combined with application of stem cells engineered through in vitro and in vivo cell lineage cultures for the reconstruction of craniofacial skeleton.
