Finding the causes of inborn defects (syndromology)
Syndromology deals with inborn defects and the results of their combinations. As the inborn defects we most often define the defects in the creation of organs, which are formed during the period of the intrauterine life.
However, functional defects (e.g., mental retardation), as well as defects at the molecular level (e.g., defects of metabolism), fall into the category of inborn defects.
The inborn defects may have primarily a genetic cause or, on the contrary, they may be the consequence of an unfavourable impact of the external environment.
Most of the congenital defects are multi-factorial: this means that both the genetic disposition and the impacts of the external environment contribute to their cause.
A syndromologist tries to find answers to these questions:
- Is the defect isolated or does it refer to a typical group of defects (syndrome)?
- In which period of the intrauterine life did the defect arise?
- Does the expected type of genetic inheritance correspond to the situation in the patient´s family tree?