Library Type: Condition
Every patient’s treatment plan is customized to their unique situation, but chemotherapy may be utilized to reduce tumor size followed by surgical removal of the shrunken tumor. Following surgery, a patient may need orthotic or prosthetic care to help them meet their goals.
- Orthotic Treatment: In cases of limb salvage, artificial bone segments may replace biological structures and require bracing to support the affected limb. Examples of bracing may include ankle foot orthoses (AFOs), knee ankle foot orthoses (KAFOs), and hip abduction orthoses.
- Prosthetic Treatment: In cases of amputation, custom prostheses can restore mobility and independence through the ability to walk and participate in sports and other activities.
The entire health care team will be involved in treating a child with PFFD to get the best result. Sometimes surgery is needed to treat PFFD to improve the child’s ability to walk. This can be in the form of a leg lengthening or an amputation. Two types of amputation surgery that are common with PFFD are a rotationplasty (also known as a Van Nes procedure) or a Symes amputation.
Regardless of the stage, treatment is needed, either with a brace or a prosthesis, for the child to walk. This usually starts when the child begins walking, around one year of age, and continues throughout their life. Those that have a difference in leg lengths may wear a lifted shoe on their shorter side. Children that have had an amputation will require a prosthesis to allow walking. This prosthesis will be specially designed depending on the type of surgery and unique needs of the child.
Gerscovich, Eugenio O et al. “Fetal ultrasound: Early diagnosis and natural evolution of proximal femoral focal deficiency.” Journal of ultrasonography vol. 17,71 (2017): 294-298. doi:10.15557/JoU.2017.0043.
PFFD – Proximal Focal Femoral Deficiency. International Pediatric Orthopaedic Society of North America.
Congenital Femoral Deficiency (CFD). International Center for Limb Lengthening.
There is no single treatment and options are centered on the degree of involvement with the focus on restoring mobility. Management may include surgical limb lengthening procedures, prosthetic/orthotic intervention, or a combination of the two.
Shoe lifts, orthoses (braces), and prostheses (artificial limbs) can be used to treat the limb length discrepancy. Generally, the treatment is based upon the amount of the leg length difference.
- Mild cases in toddlers of a few centimeters are fit with an external lift on their shoe when they begin pulling up to stand and walk.
- Moderate cases can use a plastic leg brace – ankle-foot orthosis (AFO) – to assist in stabilizing the ankle joint along with a lift to even the leg lengths.
- In severe cases, where the leg length discrepancy is over 4 inches (10cm), a “prosthosis” can be fabricated. This usually consists of a prosthetic foot mounted to the bottom of a brace to eliminate the need for a shoe lift.
Surgical options consist of a series of limb lengthening procedures and should be performed at specialized centers with surgeons who treat many patients with this condition. In the event that the child is not a candidate for a limb lengthening procedure, the surgeon may recommend other surgeries or treatment options.
New medications available for children with SMA can change the progression of the disability. Because these new types of medicine can extend the life of a patient with SMA, it is more important than ever to treat any joint and muscle symptoms so that the patient can reach their highest potential.
A specialized plan of care is based on the child’s growth, needs, and goals. The primary goal of treatment is for the child to have a functional limb that is equal in length to the sound side leg at full maturity.
Most cases of tibial hemimelia require some form of surgical intervention. The most common surgical interventions include limb amputation and/or limb reconstruction with lengthening.
Prosthetic and orthotic interventions aim to reduce instability and create a functional limb. Treatment options may include a shoe lift, an orthosis (brace), or a prosthesis (artificial limb). Milder cases may be managed with a shoe lift to correct a leg length discrepancy. Bracing may also be prescribed to stabilize joints or improve mobility. In more severe cases, a prosthetic leg may be the most functional option. All bracing or prosthetic treatment should help a child work towards age-appropriate goals. A prosthesis is typically fit when a child begins to pull to stand at around 8-10 months old.
Large length discrepancies, joint defects, and muscle contractures left untreated can greatly impact your child’s ability to achieve functional goals and level of independence.