Physical abnormalities that are present at or before birth are called congenital. These deformities may affect the facial structure such as with cleft lip, or may be skeletal, such as with clubfeet or spina bifida. A baby may be missing a limb or have one shorter than the other, or may have an extra toe or finger. The most severe forms of congenital deformities (sometimes referred to as birth defects) include neural tube defects, heart defects, and Down syndrome, a lifelong condition that may cause additional health problems for the child.
A number of factors contribute to congenital deformities. They may be genetic, or they may be the result of infectious disease that affects the growing fetus. In some cases, birth defects could be caused by environmental factors such as exposure to toxic chemicals. Drinking alcohol during pregnancy is also a known risk for congenital deformities, including low birth weight and abnormalities of the central nervous system. Often times, however, it’s impossible to pinpoint exactly why a deformity occurred.
There are as many treatments for congenital deformities as there are types of abnormalities. Treatment for limb deformities may include corrective surgery, prosthetics, orthotics, and physical therapy along with counseling services.
Advances in technology allow some surgeries, such as to treat spina bifida, to be performed in utero (baby still in the mother’s womb), which has been shown to improve outcomes compared to babies who have spina bifida surgery after birth.
Our Main Line Health team of neonatologists works with critical care pediatric specialists to care for critically ill newborns, newborns requiring surgery or more intensive specialized treatments, or children with birth defects.
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A test that can be performed in the first trimester of pregnancy to determine chromosomal defects and congenital deformities in the developing fetus.
Genetic evaluation is becoming an important part of personalized care, as many health conditions have a genetic basis and genetic test results can help to guide medical decisions. Our genetic counselors provide consultations related to cancer genetics, cardiovascular genetics and prenatal genetics.
Many people think of plastic surgery as purely cosmetic, but there’s a lot more to this surgical specialty. Plastic surgeons often do reconstructive procedures that can rebuild body parts after an injury or illness.
