Congenital limb deformities develop when a part or the entire upper and lower limbs fail to develop normally as the infant is growing in the uterus. The limb deformities can develop as the result of several causes but often occur as a part of various genetic conditions. The congenital limb deformities among infants can present difficulties with their normal development of motor skills requiring assistance with their daily activities. The congenital limb deformities are diagnosed at the birth of the infant and are not usually fatal or life-threatening.
Causes
It is estimated that most of the congenital limb deformities develop spontaneously with no apparent reason although some forms of conditions such as extra digits can be inherited. Some of the risk factors associated with having infants with congenital limb deformities include conditions that can affect the infant in the uterus during their development and exposures to certain chemicals or viruses with pregnancy. Specific medications can also cause these deformities with the use of anti-depressants and anti-psychotic drugs during pregnancy. Smoking and taking medications for hypertension has also been associated with infants born with limb deformities.
Some of the common congenital limb defects include;
Complete or partial absence of the limb
Failure of a section of the limb to separate such as the fingers or the toes
Duplications of fingers or toes
Overgrowth, a condition when the limb is larger than the normal size
Undergrowth, a condition when the limb is smaller than the normal size
Constriction band syndrome. The early rupture of the amniotic sac causing bands that can become entangled resulting in the constrictions of the limbs, amputations, immobilization and various other deformities.
Diagnosis
The diagnosis of limb deformities is made after a physical examination of the infant at birth. The x-rays may also be required to determine the deformities of the bones. The congenital limb deformities can also be associated with other genetic disorders and can involve a range a diagnostic test to determine the cause. Depending on the cases, an assessment by the clinical geneticist may be beneficial.
Treatment
The treatment of the congenital limb deformities is based on the age of the child, the medical history, their overall health, the extent of the disease and the type of the condition. Accordingly, the treatment options for each affected child vary but focus on providing a limb with proper function and appearance. The treatment also focuses on improving the cosmetic appearance, promoting normal development and discovering the sense of independence. Depending on the severity of the deformities, the treatment can include conservative methods, surgical procedures and prosthetics. The conservative methods can include physiotherapy for mild forms of deformities, manipulation of joints or splinters and casts. The prosthetic devices are valuable for the lower-limb deformities or for the complete absent upper limbs. Early intervention is important particularly among the children who can successfully use prosthesis which can become a part of their body image.
References
https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02752
http://www.aboutbirthdefects.org/limb/
https://www.apollohospitals.com/departments/orthopedic/bone-joint-health/lower-limbs
