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Upper and Lower Limb Reduction Defects

Congenital absence of foot and toes

Longitudinal reduction defect of radius


Upper and lower limb reduction defects occur when a part of or
the entire arm (upper limb) or leg (lower limb) of a fetus fails to
form completely during pregnancy. The defect is referred to as a
“limb reduction” because a limb is reduced from its normal size
or is missing.

What We Know About Upper and Lower Limb


Reduction Defects

How often does limb reduction defects occur?


CDC estimates that each year about 1,500 babies in the
United States are born with upper limb reductions and
about 750 are born with lower limb reductions. 1 In other
words, each year about 4 out of every 10,000 babies will
have upper limb reductions and about 2 out of every
10,000 babies will have lower limb reductions. Some of
these babies will have both upper and lower limb
reduction defects.

What problems do children with limb reduction defects have?

Babies and children with limb reduction defects will face various
issues and difficulties, but the extent of these will depend on the
location and size of the reduction. Some potential difficulties and
problems include:

 Difficulties with normal development such as motor skills


 Needing assistance with daily activities such as self-care
 Limitations with certain movements, sports, or activities
 Potential emotional and social issues because of physical
appearance

Specific treatment for limb reduction defects will be determined


by the child’s doctor, based on things like the child’s age, the
extent and type of defect, and the child’s tolerance for certain
medications, procedures, and therapies.

The overall goal for treatment of limb reduction defects is to


provide the child with a limb that has proper function and
appearance. Treatment can vary for each child. Potential
treatments include:

 Prosthetics (artificial limbs)


 Orthotics (splints or braces)
 Surgery
 Rehabilitation (physical or occupational therapy)

It is important to remember that some babies and children with


limb reductions will have some difficulties and limitations
throughout life, but with proper treatment and care they can live
long, healthy, and productive lives.

What We Still Do Not Know About Upper and


Lower Limb Reduction Defects

What causes limb reduction defects?

The cause of limb reduction defects is unknown. However,


research has shown that certain behaviors or exposures during
pregnancy can increase the risk of having a baby with a limb
reduction defect. These include:

 Exposure of the mother to certain chemicals or viruses


while she is pregnant
 Exposure of the mother to certain medications
 Possible exposure of the mother to tobacco smoking
(although more research is needed)
CDC works with many researchers to study risk factors that can
increase the chance of having a baby with limb reduction
defects, as well as outcomes of babies with the defect. Following
are examples of what this research has found:


A woman taking multivitamins before she gets pregnant
might decrease her risk for having a baby with limb
reduction defects, although more research is needed.2

Certain sets of limb reduction defects might be associated
with other birth defects, such as heart defects,
omphalocele, and gastroschisis.3

Can limb reduction defects be prevented?

There is no known way to prevent this type of defect, but some of


the problems experienced later in life by a person born with a
limb reduction defect can be prevented if the defect is treated
early.

Even so, mothers can take steps before and during pregnancy to
have a healthy pregnancy. Steps include taking a daily
multivitamin with folic acid (400 micrograms), not smoking, and
not drinking alcohol during pregnancy.

Resources for Families and Individuals


Affected by Upper and Lower Limb Reduction
Defects
Cornell University
References
1. Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS,
et al. National estimates and race/ethnic-specific variation
of selected birth defects in the United States, 1999-2001.
Birth Defects Res A. 2006;76(11): 747-56.
2. Yang QH, Khoury MJ, Olney RS, & Mulinare J. Does
periconceptional multivitamin use reduce the risk for limb
deficiency in offspring? Epidemiology. 1997;8: 157-61.
3. Rosano A, Botto LD, Olney RS, Khoury MJ, Ritvanen A,
Goujard J, et al. Limb defects associated with major
congenital anomalies: clinical and epidemiological study
from the International Clearinghouse for birth defects
monitoring systems. Am J Med Genet. 2000;93: 110-16.

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