DPH2-related diphthamide deficiency syndrome-2 is a rare inherited disorder caused by mutations in the DPH2 gene, crucial for protein synthesis.

Dr. Vykunta Raju K. N and Dr. Himani Pandey collaborated to diagnose a 1-year-9-month-old girl using whole-exome sequencing. They identified a pathogenic mutation in the DPH2 gene, impacting her growth and cognitive development.

The infant exhibited several troubling symptoms: delayed milestones, short stature, seizures, and distinctive facial features. These highlight the complexity of diphthamide deficiency syndrome-2, showcasing novel indicators not previously documented.

This diagnosis emphasizes the need for genetic counseling, particularly for families in consanguineous relationships. Understanding the genetic risks helps families make informed decisions regarding future pregnancies.

Early detection opens doors for timely interventions, enhancing the quality of life for affected children through therapies and careful monitoring, especially for seizures and developmental challenges.

The case's publication enriches medical literature by documenting new clinical features. This documentation guides future research and diagnoses, supporting the need for increased awareness of genetic disorders.

As genetic screening expands, this remarkable case is expected to promote research and potentially lead to targeted therapies, improving clinical outcomes for rare genetic syndromes in India.