Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth." (See also Introduction to Birth Defects of the Face, Bones, Joints, and Muscles Introduction to Birth Defects of the Face, Bones, Joints, and Muscles Birth defects, also called congenital anomalies, are physical abnormalities that occur before a baby is born. "Congenital" means "present at birth." Birth defects of the face and limbs are fairly... read more .)
Limbs may form abnormally. For example, bones in the hand and forearm may be missing because of a genetic defect (see Chromosome Abnormalities Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one... read more ), or sometimes part or all of a hand or foot may be missing. Normal development of a limb can also become disrupted in the womb. In amniotic band syndrome, limbs develop abnormally when they are constricted by thin strands of tissue from the amniotic sac (the sac that holds the amniotic fluid surrounding the developing fetus in the womb).
Abnormalities of the limbs can also be caused by a congenital infection Overview of Infections in Newborns Infections occur at all ages but are a great cause for concern in newborns because newborns, especially premature ones, have an underdeveloped immune system and are more susceptible to infection... read more or a teratogen Exposures During Pregnancy Some risk factors are present before women become pregnant. These risk factors include Certain physical characteristics, such as age and weight Problems in a previous pregnancy, including the... read more , which is a harmful substance that the mother was exposed to while pregnant and that causes birth defects. The drug thalidomide, which was taken by some pregnant women in the late 1950s and early 1960s for morning sickness, caused a variety of limb defects—usually short, deformed, and underdeveloped limbs with limited function. At the time, doctors did not know that thalidomide was a teratogen, so a number of babies were born with missing or incompletely formed limbs. Doctors cannot always determine what causes abnormally formed limbs.
Abnormalities of the arms and legs may occur in a horizontal fashion (for example, if the arm is shorter than normal) or in a lengthwise fashion (for example, the arm is abnormal on the thumb side—from the elbow to the thumb—but normal on the little finger side).
A child who has one birth defect of the limbs is more likely to have another abnormality.
Diagnosis of Missing or Incompletely Formed Limbs
Before birth, ultrasonography
After birth, x-rays
Sometimes genetic testing
Before birth, doctors are sometimes able to diagnose these defects during an ultrasound Ultrasonography Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more .
After birth, doctors typically take x-rays and may do other imaging tests to determine which bones are affected.
Because abnormal genes may be involved in birth defects of the limbs, affected babies should be evaluated by a geneticist. A geneticist is a doctor who specializes in genetics (the science of genes and how certain qualities or traits are passed from parents to offspring). Genetic testing of a sample of the baby's blood may be done to look for chromosome and gene abnormalities. This testing can help doctors determine whether a specific genetic disorder is the cause and rule out other causes.
Treatment of Missing or Incompletely Formed Limbs
Children often become very adept at using a malformed or artificial limb.
An artificial limb (prosthesis Overview of Limb Prosthetics A limb prosthesis is an artificial limb that replaces a missing body part, usually because it has been amputated. The main causes of limb amputation are Blood vessel (vascular) disease, particularly... read more ) can often be fitted (usually when the child is able to sit independently) to make the malformed limb easier to use or to replace a limb that is missing or mostly missing. Children use a prosthesis most successfully when it is fitted early and becomes an integral part of their body and body image during the developmental years. During infancy, prostheses should be as simple and durable as possible. For example, a baby can be fitted with a hook rather than a bioelectric arm.
Most children who are born with a birth defect of the limbs lead normal lives.
If an abnormal gene is identified, families of affected children may benefit from genetic counseling.