Limb reduction defects (LRD)

Limb reduction defects (LRD) are medical conditions in which newborns are born with incompletely formed upper limbs (arms) and/or lower limbs (legs). The incomplete formation may make the limb smaller than expected or missing entirely. Limb reduction defects are sometimes categorized as either upper or lower limb reduction defects. Many children may have multiple reduction defects that may affect both upper and lower limbs. In 2020, about 1 in 1,900 newborns in the United States was affected by at least one limb reduction defect. This condition may also be called “limb deficiencies.”

Background

Limb reduction defects are among the best-publicized congenital anomalies, which has helped to spread awareness of them and their treatment options. Unfortunately, much of the publicity has been due to sudden outbreaks of the condition, or fears of outbreak. Notably, in the early 1960s, a sudden rise in limb reduction defects was connected pregnant women using the drug thalidomide, which was believed to decrease insomnia, anxiety, and morning sickness. This alarming event led to advances in the monitoring of unborn babies to help prevent future occurrences.

Some research into the condition in the late 1980s indicated that limb reduction defects may be related to chorionic villus sampling, the removal and testing of samples of placental tissues for genetic abnormalities, during the first stages of pregnancy. Accordingly, medical establishments re-evaluated and changed their approaches to avoid further dangers. Future limb reduction defect outbreaks and scares, and the associated reports, led to greater awareness and improved prevention techniques. However, limb reduction defects remained a constant possibility even in the 2020s.

Overview

Limb reduction defects, or limb deficiencies, refer to situations in which babies are born with the absence of a limb or part of a limb, or severe hypoplasia, which means that a limb or part of a limb is smaller than normal because it has an abnormal shape. Limb reduction defects can occur in upper or lower regions of the body. Upper limb reduction defects affect the upper limbs, or arms, while lower limb reduction defects affect the lower limbs, or legs. Some people have more than one defect, which may affect both upper and lower limbs.

As a medical category, limb reduction defects should be viewed as distinct from other limb anomalies that may at first glance appear similar. These related but distinct conditions include forms of mild hypoplasia (in which the limb still retains a normal shape), sirenomelia (partial or total fusion of the legs), and syndactyly (partial or total connection of the fingers).

Despite extensive research into and precautions against limb reduction defects, they continue to occur with some regularity. According to the Centers for Disease Control and Prevention (CDC), in the United States, about 1 out of every 1,900 newborns had a limb reduction defect in 2020. This figure includes babies with reduction defects in more than one limb.

In addition, medical science has not identified any one definite cause of limb reduction defects. However, some situations and activities are likely to raise the danger of limb reduction defects. Some of the main situations involve exposure of pregnant women to certain viruses, medications, or chemicals that may increase risk to the unborn child. Tobacco smoking is another possible contributor to limb reduction defect risk.

Just as scientists have not determined one certain cause, so too have they not found any definite means of preventing limb reduction defects. However, a few precautions seem to have helped lower the risk and ensure healthier pregnancies. Medical experts advise pregnant women to avoid smoking or drinking alcohol. In addition, pregnant mothers and their unborn children may benefit from daily multivitamins, specifically those that contain folic acid. Some research has linked folic acid with decreases in limb reduction defect risk levels. The CDC recommends 400 micrograms of folic acid as a healthy intake level for most pregnant women.

Limb reduction defects may take many forms and levels of severity. For those reasons, every case is unique, and children with limb reduction defects may face different challenges. Commonly, children will experience developmental problems in learning and using motor skills. Children with limb reduction defects may be limited in their ability to engage in sports or other physical activities and may also need extra help with everyday activities including self-care. Limb reduction defects may also affect children in mental, emotional, and social ways. Children with limb reduction defects may feel self-conscious about their appearance, which may affect their emotional health and social development.

To help reduce the severity of limb reduction defects and their effects, parents or caregivers may seek a variety of treatment options. Since limb reduction defects take many forms, so too do the possible treatments. Other factors that caregivers and medical professionals must consider include the child’s age, severity of the defect, and types of procedures or medicines that a child can tolerate.

In general, the goal of limb reduction defect treatments is to restore the function and appearance of the affected limb or limbs. For many patients, the best solution is a prosthetic, or an artificial limb, to replace the missing or malformed one. Modern prosthetics are of high quality and great realism, providing users with significant benefits. Medical experts may also apply splints, braces, or other forms of orthotics to the affected limb. For many patients, different forms of surgery may improve the limb reduction defect or decrease its negative effects.

Patients undergoing major limb reduction defect treatments may also benefit from rehabilitation programs, both to help them heal from treatments as well as to adapt to their new conditions. Children with severe limb reduction defects may experience negative effects throughout life, but early and careful treatment can offer great improvements. Many children born with limb reduction defects have made great progress and function much as other people in their age groups.

Bibliography

“Congenital Limb Defects.” Children’s Hospital of Philadelphia, 2022, www.chop.edu/conditions-diseases/congenital-limb-defects. Accessed 12 Aug. 2022.

“Environmental Public Health Tracking: Upper and Lower Limb Reduction Defects Data.” Wisconsin Department of Health Services, 1 Aug. 2022, www.dhs.wisconsin.gov/epht/limb.htm. Accessed 12 Aug. 2022.

“Facts about Upper and Lower Limb Reduction Defects.” U.S. Department of Health & Human Services, 26 Oct. 2020, www.cdc.gov/ncbddd/birthdefects/ul-limbreductiondefects.html. Accessed 12 Aug. 2022.

“Limb Reduction Defects.” Birth Defect Research for Children, 2022, birthdefects.org/limb-reduction-defects/. Accessed 12 Aug. 2022.

“Limb Reduction Defects/Limb Deficiencies.” U.S. Department of Health & Human Services, 17 Mar. 2021, www.cdc.gov/ncbddd/birthdefects/surveillancemanual/quick-reference-handbook/limb-reduction-defects-limb-deficiencies.html. Accessed 12 Aug. 2022.

“Limb Reduction Defects.” NHS Wales, www.wales.nhs.uk/sites3/documents/416/Limb reduction defects.pdf. Accessed 12 Aug. 2022.

“Limb Reduction Disorders.” Iowa Public Health Tracking Portal, 2022, tracking.idph.iowa.gov/Health/Birth-Defects/Limb-Reduction-Defects. Accessed 12 Aug. 2022.

“Limb Deficiencies (Reduction Defects).” Minnesota Department of Health, 18 Dec. 2019, www.health.state.mn.us/diseases/cy/limbdef.html. Accessed 12 Aug. 2022.