Rhode Island Department of Health Genetics Website

Genetic Disorders

The impact of genetic disease is often underestimated. Approximately 3 - 5 % of babies are born with a birth defect of chromosomal, gene or multifactorial origins. Children with genetic disorders account for almost 50% of all pediatric teaching hospital admissions and over 40% of childhood deaths. The list of illnesses that have significant genetic influence include many common adult disorders, including cancer, Alzheimer's disease, Parkinson's disease, heart disease and diabetes. Thanks to advances in genetics, health professionals now have the tools to understand how certain health problems, or increased risks for certain illnesses, pass from generation to generation. Until recently, genetics played a relatively minor role in health care because most people were not affected by "traditional" genetic conditions.

Genetic conditions can be caused by a mutation in a single gene, as in cystic fibrosis, phenylketonuria (PKU), thalassemia, Tay Sachs disease, and others. An extra or missing complete chromosome or a segment of a chromosome causes chromosomal disorders. Down syndrome is caused by the presence of an extra chromosome 21, and even though all of the genes may function normally, the individual has a disorder with specific characteristics. Multifactorial disorders are caused by a combination of small genetic variations, which together with possible environmental factors, can cause birth defects. These types of disorders have a tendency to recur in some families, but do not follow traditional patterns of inheritance. Some examples include cleft lip with or without cleft palate, spina bifida, pyloric stenosis and others.

For extensive listings of genetic disorders, visit the Genetic Alliance.