Dysmorphology refers to the study of birth defects or structural abnormalities in living organisms, particularly humans. It involves the examination and interpretation of physical characteristics and anomalies to diagnose and identify possible underlying genetic disorders or developmental disorders.

Dysmorphology plays a crucial role in clinical genetics as it helps doctors and geneticists classify and diagnose congenital malformations. By carefully analyzing the physical features and patterns associated with certain conditions, dysmorphologists can provide insights into the potential genetic causes and recommend appropriate tests or referrals for further evaluation.

Dysmorphologists utilize a variety of tools and techniques to assess and document physical characteristics. These may include comprehensive physical examinations, medical imaging, such as X-rays or ultrasounds, and genetic testing. Additionally, they often rely on databases, reference books, and collaboration with other specialists to aid in accurate diagnosis and genetic counseling.

Dysmorphology is applied in various medical disciplines, including pediatrics, genetics, and embryology. It helps in detecting and understanding genetic syndromes, congenital anomalies, and developmental disorders. Dysmorphology aids in providing appropriate medical interventions, treatment plans, and anticipatory guidance to affected individuals and families.