Explaining congenital disabilities
10/7/2025 by Rebbecca Kruc, M.D., M.P.H.
What are congenital disabilities?
Congenital disabilities are changes in a person's physical, developmental or intellectual health that are present when a baby is born. They are due to changes that occur during fetal development and may affect the structure or functioning of a person's body.
What causes congenital disabilities?
Sometimes, congenital disabilities are caused by an underlying genetic change in the developing fetus, such as trisomy 21, causing Down Syndrome, a missing X chromosome causing Turner Syndrome, or a piece of chromosome 15 missing, causing Prader-Willi Syndrome. Sometimes, environmental exposure to which the fetus is exposed can cause changes in their development. Examples of environmental exposures that can cause congenital disabilities in a developing fetus are alcohol, lithium, isotretinoin, warfarin, pesticide exposure and valproic acid.
What are examples of congenital disabilities?
Some examples of congenital disabilities include anencephaly (being born without parts of the brain and skull), cleft lip or palate, diaphragmatic hernia (a hole in the diaphragm), congenital heart defects, esophageal atresia (an abnormal formation of the esophagus, which connects the mouth to the stomach), gastroschisis (a hole in the abdominal wall near the umbilicus), limb defects (when an arm or leg fails to develop completely), among other examples.
How are congenital disabilities diagnosed?
Congenital disabilities may be diagnosed during a pregnancy or after a baby’s birth, or in some instances, may not be identified until a child grows up. During pregnancy, routine monitoring, such as ultrasounds, is designed to monitor structural changes as the fetus develops. Other screening tests during pregnancy include blood tests, which can measure protein levels or free fetal DNA in the mother's blood. If a concern is found, other tests may consist of echocardiograms, which are ultrasounds of the fetal heart, and fetal MRI, which examines the fetal brain and nervous system. Chorionic villus sampling occurs when a tiny piece of the placenta is examined for chromosomal or genetic conditions. Amniocentesis is a procedure that analyzes a small amount of amniotic fluid to find genetic changes and certain infections. After birth, some health defects are identified on physical examination of the baby, such as a cleft lip or microcephaly. Other conditions may not be determined until later during childhood or adulthood.
Treatment for congenital disabilities
Usually, there are no cures for congenital disabilities, and treatment varies depending on the diagnosis. Treatment can include medications, surgeries, physical and occupational therapy, and using adaptive devices such as braces, wheelchairs, hearing aids, etc. Children may also need developmental supports such as speech therapy or special educational supports in school as they grow.
Rebecca Kruc, M.D., M.P.H., is a Pediatric and Adolescent Medicine resident in Rochester, Minnesota. She has previously worked in public health and plans to blend public health and medicine.