Molecular diagnosis of dysmorphic syndromes and inherited metabolic disorders in Thailand.

ABSTRACT

While dysmorphic syndromes and inherited metabolic disorders are individually rare, they collectively account for a significant proportion of illnesses, especially in children. They present clinically in a wide variety of ways, involving virtually any organ or tissue of the body making them relatively difficult to diagnose. However, reaching an accurate diagnosis for children with dysmorphic features and suspected inherited metabolic disorders is important to them and their families both for treatment and for the prevention of disease in other family members. It also makes all the accumulated knowledge available about the relevant condition. Molecular techniques have kindled a revolution in the diagnosis of genetic disorders, including dysmorphic syndromes and inherited metabolic disorders. Molecular methods essentially avoid problems of other techniques. This review exemplifies some of the diseases that can be diagnosed by molecular tools available in Thailand and illustrates some of their benefits.