Common Birth Defects


Down Syndrome
Down syndrome is the most common chromosomal condition, although it’s not necessarily hereditary.
Down syndrome is the most common chromosomal condition, although it’s not necessarily hereditary.
©iStockphoto.com/Erna Vader

What is Down syndrome?

Down syndrome is a genetic disorder. It includes a combination of birth defects including mental retardation, characteristic facial features, and often a range of health issues, such as impaired hearing, impaired vision, and heart defects. It is caused by the presence of an extra chromosome.

How common is Down syndrome?

Down syndrome is one of the most common genetic birth defects, affecting about one in every 1,000 babies. In the United States, there are approximately 350,000 individuals with Down syndrome. Mothers who are over age 35 are at greater risk of having a baby with Down syndrome. Prenatal testing can diagnose or rule out this disorder.

How does Down syndrome affect the child?

All children with Down syndrome are affected with some degree of mental retardation. The degree of retardation varies widely, although it's usually in the mild to moderate range. The physical characteristics of the baby are not good indicators of the level of mental retardation. Down syndrome produces characteristic facial features. A child may have eyes that slant upward. Her mouth, nose, and ears may be small. Some children have short necks and small hands with short fingers. Children with Down syndrome generally can achieve most of the major milestones of childhood, such as walking, talking, and using the toilet, although often they do these things later than other children. Special education programs are often recommended, but many Down syndrome children are able to participate with their typical peers in the classroom and in extracurricular activities. Down syndrome often comes with a variety of medical problems, including heart, vision, and hearing difficulties.

What treatment is available for Down syndrome?

There is no cure for Down syndrome. However, with early intervention and special education, many babies born with Down syndrome can grow up, attend school, and participate in a social life. Today, many Down syndrome adults live semi-independently in group homes, holding down jobs and taking part in their communities. Some Down syndrome adults marry.