All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Congenital amputations
Medical expert of the article
Last reviewed: 04.07.2025
Congenital amputations are transverse or longitudinal defects of the limbs associated with primary growth disorders or secondary intrauterine destruction of normal embryonic tissues.
Congenital amputations are the absence of a limb or part of a limb at birth. The etiology is often unknown, but known causes include teratogens (eg, thalidomide) and amniotic bands.
In transverse defects, all elements normally located below a certain level are absent, and the limb resembles an amputation stump. For example, in proximal phocomelia of the femur, the proximal femur and acetabulum do not develop; the degree of the defect may vary. Longitudinal amputations involve characteristic reduction defects (eg, complete or partial absence of the radius, fibula, or tibia). They may occur as part of syndromes such as VACTERL [formerly VATER: vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, limb anomalies (eg, aplasia of the radius)]. Children with transverse or longitudinal reduction defects may also have hypoplasia or cleft bones, synostoses, duplications, dislocations, and other bone defects. One or more limbs may be affected, and the type of defect may vary from limb to limb. CNS abnormalities are rare. Radiography is necessary to determine which bones are affected.
Treatment consists primarily of prosthetics, which are of greatest importance in any congenital lower limb amputation or in total or partial absence of the upper limb. If any motor activity in the arm or hand is preserved, no matter how severe the anomaly, the functional reserve should be carefully assessed before prosthetics or surgery are recommended. Therapeutic amputation of any limb or part of a limb should be recommended only after evaluation of the functional and psychological significance of the loss and if necessary for the purpose of prosthetics.
An upper limb prosthesis should be designed to perform the greatest possible number of functions so that the number of assistive devices can be kept to a minimum. Children benefit most from a prosthesis when the prosthesis is fitted early and becomes an integral part of their body during development. Appliances used in infants should be as simple and unobtrusive as possible, such as a hook rather than a bioelectric arm. With effective orthotic and assistive support, most children with congenital amputations lead normal lives.
[