How common is congenital femoral deficiency?

CFD is a rare condition; one or two out of every 100,000 children are affected. Congenital femoral deficiency can affect one side of the body, or both. Bilateral (both sides) CFD is the rarer of the two, occurring in around 15% of cases. Congenital femoral deficiency commonly appears with fibular hemimelia, a condition where the fibula, the smaller of the two shin bones, is short or absent, and the tibia is short. One in 40,000-100,000 children is born with congenital femoral deficiency. Most patients with mild to moderate congenital femoral deficiency/proximal femoral focal deficiency can be successfully treated with limb reconstruction and sequential limb lengthening. Initial treatment begins around the age of 18-24 months. This initial treatment consists of joint reconstruction for the hip and knee.Amputation is not the most common form of treatment for congenital femoral deficiency at the International Center for Limb Lengthening, but it is an option for any type of congenital femoral deficiency, and it is chosen by some patient families.



How common is proximal femoral focal deficiency?

Proximal femoral focal deficiency (PFFD) is an uncommon condition that affects about 1 in every 200,000 children, and can vary in severity from child to child.

What causes congenital femoral deficiency?

Researchers suspect it is caused by a disruption during early prenatal development, which may occur randomly or as a result of an environmental factor such as infection or trauma. Taking the drug thalidomide during pregnancy can cause CFD and other limb deficiencies in an unborn child.

Is proximal focal femoral deficiency genetic?

Proximal femoral focal deficiency (PFFD), also known as Congenital Femoral Deficiency (CFD), is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur.

Can you be born without femur?

In some children, a birth defect causes the femur to be shorter than it should be. This lead to other developmental issues, such as deformity and instability of the hip and knee. Congenital femoral deficiency typically impacts just one femur, though it can affect both.

What is congenital short femur?

Congenital short femur is a rare type of congenital malformation that occurs during prenatal development and affects the growth of the femur bone in the upper leg.

What are femoral defects?

The Paprosky classification[5] of proximal femoral defects is used to assess the amount of bone loss and define the morphology of remaining proximal femoral bone stock; it also provides guidelines for treatment. Paprosky type I defects are characterized by minimal metaphyseal cancellous bone loss with intact diaphysis.

What is bilateral PFFD?

Abstract. Proximal femoral focal deficiency (PFFD) is a rare skeletal dysplasia, characterized by hypoplasia of the subtrochanteric femur with variable degrees of shortening of the femoral shaft. There are numerous gene e.g. TBX4, FGF, FGFR, TP63 and HOX responsible for limb formation, type and its shape.

Where is the proximal femur?

Proximal femur includes the femoral head, neck and the region 5-cm distal to the lesser trochanter. There is a 125°–130° inclination angle between the head and neck and the femoral body. Further, there is a 15° anteversion angle between the plane passing through the condyles of the femoral head and the femur neck.

What is congenital femoral deficiency?

Congenital femoral deficiency (CFD) refers to a spectrum of congenital (present at birth) malformations of the thigh bone ( femur) due to incomplete or abnormal development. CFD may affect one leg (most commonly) or both legs.

What is proximal focal femoral deficiency?

Proximal focal femoral deficiency (PFFD) is part of a spectrum of congenital deformities affecting the femur, more comprehensively named congenital femoral deficiency (CFD). CFD may range from simple shortening of a normal-appearing femur to the complete absence of the proximal two-thirds of the bone.

What is the best treatment for Congenital Femoral Deficiency?

Rotationplasty: The International Center for Limb Lengthening sometimes uses rotationplasty for the more severe forms of congenital femoral deficiency if there is no true hip joint and a very large limb length discrepancy.

Is amputation an option for Congenital Femoral Deficiency?

Amputation is not the most common form of treatment for congenital femoral deficiency at the International Center for Limb Lengthening, but it is an option for any type of congenital femoral deficiency, and it is chosen by some patient families. Amputations can be done below the knee or above the knee depending on the functionality of the knee.

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