Journal of Pediatrics and Child Health
Pediatric Genetics
Pediatric genetics is a medical specialty that focuses on identifying and managing genetic and inherited disorders in children. It involves understanding how genes and chromosomes influence a child’s health, development, and risk for disease. Many genetic conditions present early in life, such as Down syndrome, cystic fibrosis, thalassemia, and metabolic disorders. Diagnosis typically includes a detailed family history, physical examination, and genetic testing. Pediatric geneticists work with families to explain inheritance patterns, risks, and management options. While many genetic disorders are not curable, early detection allows for better symptom management and improved quality of life. Genetic counseling is an important part of care, helping families make informed decisions. Advances in genetic research continue to improve diagnosis and offer hope for more personalized treatments.