ABSTRACT
Frantz and O’Rahilly described congenital skeletal limb deficiencies based on the embryologic and teratogenic manifestations. In this classification, amelia refers to the total absence of a limb, acheiria to the total absence of hand, apodia to the total absence of foot, adactylia to the total absence of digit including metacarpal/metatarsal, and aphalangia to the total absence of one phalanx or more phalanges. Frantz and O’Rahilly classified skeletal limb deficiencies into terminal deficiencies and intercalary deficiencies. ISPO classified congenital skeletal limb deficiency based on anatomical and radiological deficiencies resulting from the failure of formation of skeletal elements. It also describes the deficiencies into transverse and longitudinal deficiencies. The transverse deficiency is like that of amputation and hence “Integrated Evaluation of Disability” assigns whole person impairment like that of amputation. However, in longitudinal deficiency, there may be the absence of joint, loss of muscle due to aplasia or hypoplasia of the muscle in the corresponding missing skeletal element/s. There may be a loss of stability of the extremity due to the absence of the skeletal element/s. There may be a limitation of ROM knee/ankle joint due to the absence of tibia, loss of muscle power in the ankle due to aplasia or hypoplasia of tibial muscles. There may be potential instability of lower extremity due to the absence of tibia, e.g. tibial total longitudinal deficiency. Hence, “Integrated Evaluation of Disability” computes impairment based on ROM of a joint, muscle power, stability and shortening in longitudinal deficiencies.
