A congenital disorder, also known as a congenital disease or birth defect, is a condition that is present from birth. Congenital disorders can be inherited or caused by environmental factors. They can be defined as structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth, or sometimes may only be detected later in infancy, such as hearing defects. Congenital disorders can be mild or severe and may cause lifelong impacts on a childs health and development. Some common congenital disorders include Down syndrome, spina bifida, and cystic fibrosis.
Approximately 6% of babies worldwide are born with a congenital disorder, resulting in hundreds of thousands of associated deaths. However, the true number of cases may be much higher because statistics do not often consider terminated pregnancies and stillbirths. Some congenital disorders can be treated with surgical and non-surgical options, such as cleft lip and palate, clubfoot, and hernias. Others, including heart defects, neural tube defects, and Down syndrome, can cause lifelong impacts.
The causes of congenital disorders can be genetic or environmental. Approximately 50% of congenital disorders cannot be linked to a specific cause. However, known causes include single gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens, and micronutrient deficiencies. Genetic causes can be traced to inherited genes or from mutations. Other anomalies, such as cystic fibrosis and hemophilia C, are more prevalent in specific ethnic communities. The vast majority (94%) of congenital disorders occur in low- and middle-income countries. Possible causes include lack of screening and prenatal care, insufficient access to nutritious foods for pregnant women, use or contact with alcohol or tobacco, and increased exposure to environmental toxins.
It is natural to be concerned about congenital disorders if you are pregnant or planning a pregnancy, especially if your family has a history of a particular disorder. It is possible to test for some, but not all disorders during pregnancy, and there are also things you can do to reduce the chances of your baby being born with a congenital disorder[[5]](https://www.healthdirect.gov.au/what...