Study Overview

Craniofacial disorders (CFDs) are a diverse group of congenital conditions affecting the skull and face and account for a significant proportion of birth defects worldwide. They range from isolated anomalies such as cleft lip and palate or microtia to complex syndromic disorders involving multiple organ systems, including the brain, heart, skeleton, and kidneys. The causes of CFDs are genetically heterogeneous and include single-gene variants, copy number variations, and multifactorial factors. By integrating detailed phenotypic data with genomic findings, this platform seeks to improve diagnostic accuracy, strengthen genetic counselling and prenatal care, and establish an India specific craniofacial disorder database. This resource is intended to support clinicians, researchers, and genetic counsellors, and to contribute to improved care and outcomes for individuals with craniofacial disorders.