Underdevelopment of the proximal end of the femur

Congenital Femoral Deficiency (CFD) is a rare birth defect in which there is shortening of the femur, accompanied by hip and knee deformity, movement deficits and instability. As a result, the child has problems with mobility and stability. Congenital femoral underdevelopment is usually unilateral, although it can also occur bilaterally. The earlier name for the syndrome in question is proximal femoral focal deficiency (PFFD).

Congenital underdevelopment of the femur occurs in about 1 in 40,000 births. Its cause is not fully understood. It is known, however, that congenital hypoplasia of the femur is not related to genetic disorders (provided there are no developmental disorders of other limbs or other genetic defects). The most likely cause is exposure to certain drugs (e.g., thalidomide), chemicals, radiation and viruses during pregnancy. Congenital underdevelopment of the femur sometimes co-occurs with sagittal hemimelia.

Femoral hypoplasia is a symptom associated with motor deficits and deformities. CFD is characterized by an increasing difference in limb length. The affected limb does not grow properly, so the limb length difference worsens as the patient grows.

Femoral underdevelopment - treatment

In cases of femoral underdevelopment, the treatment strategy depends on the severity of the disease and accompanying symptoms. In all, including the most severe cases, the recommended treatment is surgical correction of the deformity along with limb lengthening.

Congenital underdevelopment of the femur is not a condition of urgent surgical intervention. However, Dr. Paley suggests performing the first surgery at about 2-3 years of age. In addition, the wearing of equalizing orthotics, orthoses or prostheses before surgery may be recommended to compensate for the limb length difference. Any child with a limb length difference of more than 2 cm should use shoes with an insole to equalize the disproportion from the time the child starts walking. If the difference is more than 5 cm, an AFO orthosis can then be used to protect the ankle joint, while with a difference of more than 10 cm, the solution for aesthetic reasons may be to use a prosthetic foot integrated with an AFO orthosis, which will allow the footwear to be worn without any additional significant instep to correct the disproportion.

Congenital malformation of the femur is a very rare condition that has only recently been surgically addressed. Therefore, any surgical intervention should be carefully considered, planned and carried out by an experienced team of specialists.

Extension by CFD

The patient is ready for lengthening after appropriate surgery to prepare the joints and tissues. The process of limb lengthening is carried out by gradually stretching the ends of the bones in relation to each other, so that bone regeneration forms between them. Bone retains its regenerative capacity when its ends are moved away from each other slowly, about 1 mm per day. A faster pace can cause the gap between the ends to become too large and regeneration to cease, while stretching too slowly can cause the regenerate bone to ossify too quickly. The lengthening process is divided into two phases: distraction and consolidation.

Physiotherapy

After surgery to correct the symptoms of femoral underdevelopment, rehabilitation is a must. Physiotherapy focuses on obtaining and maintaining the best possible mobility of the knee and hip joint. Therapy during lengthening differs significantly from other orthopedic cases. In most orthopedic procedures, the patient's condition after surgery is worst at the beginning and improves during physiotherapy. The opposite happens during the lengthening process - the best function is achieved by the patient a week after surgery. During the distraction of the bone, the muscles stretch and tighten more and more, so that the range of motion of the joints becomes more and more limited, it may even turn out that the patient's functionality will deteriorate during the lengthening process. This is why diligent and systematic physiotherapy is so important.

Femoral underdevelopment - choose the best care

We know that underdevelopment of the femur requires specialized treatment. Therefore, we offer our patients hip reconstruction (SUPERhip) and femoral lengthening.

Paley European Institute is pediatric orthopedics at a high level. We offer our patients not only treatment, but also what is necessary in the case of underdevelopment of the femur, namely physiotherapy. With our support, the recovery period will be individualized to the needs of each patient. Help with congenital, developmental and post-traumatic conditions is our specialty. We also treat underdevelopment of the radius bone.