Introduction to Congenital Disorders

The medical conditions that exist since birth are called congenital disorders. They result due to various causes like genetic deformities, environment inside the uterus, combination of both or unknown reasons. The congenital condition can arise from within the genetic composition of a fertilized egg or can occur at any stage of fetal development. A congenital disorder can be detected before birth, at the time of birth or during later years. Congenital does not mean that it is a genetic cause and neither does it leave out the genetic cause. There is a difference of opinion regarding the severity of congenital disorders and how they should be termed. Congenital condition can be termed as defect, diseases, anomaly, genetic difference or disorder. A congenital disorder may be with very minor or very serious consequences. Some congenital anomalies can be very severe like anencephaly, which is fatal. Some of the congenital disorders require surgery during the neo natal period or special procedures for delivery.

Types of Congenital Disorders

Congenital disorders include a broad category of conditions. They may be minor anomalies like a birthmark, or severe malformations of single organs like a congenital heart defect or disease and a mixture of abnormalities which affect several body parts. Metabolism defects are also known as congenital defects. The three main types of congenital disorders are physical anomalies, inborn metabolism errors and genetic disorders.

A congenital physical anomaly is a defect in the body part structure. It may or may not be seen like a problem condition. Many people have single or more physical anomalies. The examples of minor anomalies are 5th finger curvature, tiny skin indentations next to the ears, bone shortening of the 4th metacarpal and sac dimples. The minor anomalies are indicators of major internal defects. A congenital malformation is a harmful physical anomaly, which is a major problem. It can also be called a birth defect. All genetic abnormalities or diseases are congenital, the only thing being that they are detected at later stages in life. These include defects of single genes or multiple genes and chromosomal abnormalities. The congenital metabolism anomalies are mainly defects of single gene and are generally heritable. Some of these affect the body part structure and some affect the function.

Sometimes there are birth defects with limb malformation. Some birth defects involve organ malformations like hole in heart, valve defect and so on. The child may have a cleft lip which is also a congenital disorder. The nervous system may also have congenital malformations like the meningocele, spina bifida and so on. Many a times, the causes for congenital disorders are unknown and are called sporadic. The main causes are genetic and environmental. Environmental causes are also called teratogenic. The congenital disorders are preventable by avoidance, early detection and effective treatment, and surgical interventions.