Pyknodysostosis is a rare autosomal recessive genetic disorder affecting the CTSK gene, which is involved in bone matrix proteins. It is associated with its own set of distinctive features such as multiple Oro-maxillary facial abnormalities and skeletal deformities. We present a 4-year-old boy child, born to a non-consanguineous marriage, with features typical of the disease. A skeletal survey was performed, and associated features were confirmed. Whole exome sequencing was done to confirm the presence of mutation in CTSK gene. The child was advised regular follow up and adequate counselling was given to the parents regarding the need for a regular follow-up and multidisciplinary approach for maintaining the quality of life. Potential research in this field is essential as there is no standard approach of care for the child.