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 bones, joints, and muscles (called musculoskeletal anomalies) are fairly common among children. They may involve only a specific body part, such as the foot (clubfoot). Or they may be part of a genetic syndrome of many abnormalities in which birth defects affect not only the bones, joints, and muscles but also multiple other body parts.
Arthrogryposis multiplex congenita refers to a group of rare congenital disorders that result from limited joint movement in the womb. The limited movement causes many joints to become curved and "frozen" in position.
Hip and joint defects include developmental dysplasia of the hip and knee dislocation.
Limb defects are numerous. Sometimes a limb is missing or does not form completely. Part or all of the hand or foot may be missing. For example, the person may have too few or too many fingers or toes. Clubfoot (talipes equinovarus) is a defect in which the foot and ankle are twisted out of shape or position. Other foot defects include metatarsus adductus, metatarsus varus, talipes calcaneovalgus, and pes planus.
In bowlegs, the knees appear to be turned outward. In knock-knees, the knees appear to be turned inward. Other defects that affect the legs include twisting of the top part of the thighbone (femoral torsion) and twisting of the shinbone (tibial torsion).
Muscle defects may be present at birth. Babies can be born missing individual muscles or groups of muscles, or muscles can be incompletely developed. Defects in muscles can occur alone or as part of a syndrome.
Neck and back abnormalities can be caused by injuries to soft tissues or bones. Two of the most common abnormalities are
Spinal defects include scoliosis, which is rarely apparent at birth, and defects of a specific vertebra, which are likely to be identified at birth. A number of different genetic syndromes include scoliosis as one of their abnormalities. As children grow, the spinal curve caused by a defect of the spine can progress quickly. Doctors monitor the spine closely.
Birth defects may be classified as
Deformations
Malformations
A deformation is a change in the shape of a body part. A deformation is caused by unusual pressure on the baby in the womb (for example, the outer shell of an ear is folded) or after the baby is born (for example, some deformations of the skull). Some deformations improve without treatment within a few days, but others need to be treated.
A malformation is an error in the baby's development that occurs in the womb. Causes of malformations include chromosome abnormalities, single-gene defects, and environmental factors (such as teratogens, which are substances known to cause birth defects). A malformation can also be caused by a combination of genetic and environmental factors. In some cases, the cause is unknown.
