Skeletal limb abnormalities are problems in
the bone structure of your arms or legs. They can affect a part of your limb or
the entire limb. Usually these problems are present at birth and sometimes
babies are born with abnormalities in more than one limb.
Certain diseases or injuries can disturb the
normal growth of your bone structure and lead to skeletal abnormalities as well.
Types of skeletal limb abnormalities
A congenital skeletal abnormality is present when
you’re born. The abnormality may mean that one of your limbs is smaller or
larger than normal or that you have more fingers or toes than normal. You could
also be missing an entire arm or leg, or you might be missing a segment of one
of your limbs or have fingers and toes that are not be completely separated
from each other.
Congenital limb abnormalities are rare. These
abnormalities can happen because of a chromosome problem, or in some cases,
congenital limb abnormalities can result from a mother taking prescription
drugs during pregnancy.
In the United States, approximately 1,500
babies are born with skeletal abnormalities in their arms and about half as
many newborns have skeletal abnormalities in their legs, according to the Centers for Disease Control and Prevention.
An acquired abnormality is one that happens
after birth. Such a condition occurs if you were born with normal limbs but experienced
a bone fracture during childhood. The broken bone might grow more slowly than
usual, leading to the affected arm or leg developing abnormally.
Some diseases, such as rickets and rheumatoid
arthritis, can negatively affect your bone structure, leading to abnormalities
in your legs or arms.
What are the symptoms of skeletal limb abnormalities?
If you’re born with a skeletal limb
abnormality, outward symptoms can be obvious, such as:
- a limb that isn’t fully formed or is
missing a component
- one leg or arm that is shorter than the
- legs or arms that aren’t in proportion
with the rest of your body
In the case of acquired limb abnormalities,
you might not have any external symptoms. Some common signs of an acquired limb
- one leg appears to be shorter than the
- pain in your hip, knee, ankle, or back
- one shoulder looks slumped in comparison
to the other
- unusual walking gait such as a limp,
rotating your leg in an unusual way, or walking on your toes
of skeletal limb abnormalities
Currently, the causes of congenital skeletal
limb abnormalities are not fully understood. Possible risk factors include:
- being exposed to viruses, medications,
or chemicals before birth
- tobacco use by the mother while pregnant
- having other kinds of abnormalities, including
omphalocele, a heart defect, or gastroschisis
- congenital constriction band syndrome,
in which bands of amniotic tissue get tangled in your arms or legs before
Acquired limb abnormalities can be caused by childhood
injury. Some of these injuries result in slower bone growth. They can also be
caused by a number of diseases that affect your bone structure, including:
- rickets, or vitamin D deficiency
- Marfan syndrome, a connective tissue
- Down syndrome, a genetic disorder
involving extra chromosomes
How do doctors diagnose skeletal limb
If the abnormality is present when you’re
born, it usually can be diagnosed immediately with a physical examination.
An acquired skeletal abnormality requires a
fairly extensive examination. This procedure includes viewing your medical
history, taking a physical exam, and measuring your limbs. X-rays, CT scans, and
other types of medical imaging also can be used to view underlying bone
structure and diagnose abnormalities.
What treatments are available?
There are three primary goals of treatment for
congenital limb abnormalities, including:
- encouraging development of the
- improving the appearance of the
- helping you adapt to day-to-day issues
that may be caused by the abnormality
Your doctor will help you decide the best
type of treatment for your specific condition.
Your doctor may prescribe an artificial arm
or leg, known as a prosthetic limb. It functions in place of a normal limb.
In some cases, your affected limb may be present
but weakened. An orthotic brace or splint may be used to support your affected
limb so it can function normally.
or physical therapy
In some cases, your doctor may recommend
occupational therapy or physical therapy to help exercise and strengthen your
Sometimes surgery is necessary to repair an abnormality
in your leg’s structure. Two types of surgery are epiphysiodesis and femoral
shortening. Epiphysiodesis is a carefully timed procedure to stop the normal
growth of one leg so that the shorter leg can reach an equal length. Femoral
shortening is a procedure where part of the femur, or thigh bone, is removed.
Your doctor might recommend elongating a
short limb through a gradual process called limb lengthening. For this procedure,
your doctor will cut your bone and use an external device to gradually increase
the length of your leg over the course of several months to a year. This
procedure can be painful and has a higher potential for complications than
Long-term outlook for skeletal limb abnormalities
As a child with a skeletal limb abnormality,
you may face a variety of physical and emotional difficulties. Your experience
will depend on where the abnormality is located and how severe it is. Possible
- problems with developing motor skills
and other physical milestones
- limitations in sports participation or
- being teased or excluded because of
differences in your appearance
- needing help in personal activities,
such as eating or bathing
Ongoing medical treatment for skeletal limb
abnormalities can assist you in gaining optimal functioning and independence.
Many people with some type of limb deformity are able to live productive and
Prevention of skeletal limb abnormalities
There is no certain way to prevent skeletal
limb abnormalities from occurring. Instead, the focus is on early detection and
Pregnant women can decrease chances of limb
abnormalities in their babies by taking a prenatal vitamin that includes folic
acid. It’s also recommended that pregnant women avoid tobacco and alcohol use.