Congenital femoral deficiency

Alternate names

Congenital short femur (subtype); Proximal femoral focal deficiency (subtype)

Definition

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.

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Classification

Various systems for classifying CFD have been proposed. Some experts classify CFD according to radiological appearance, while others classify CFD according to factors that affect options for treatment.

Cause

• The underlying cause of CFD typically is not known, but it does not appear to be inherited.
• 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.

Signs and symptoms

• CFD may affect one leg (most commonly) or both legs.
• Severity can range from minor shortening of the femur (appearing normal), to complete absence of much or all of the femur.
• Deficiency or instability of the hip and knee joint often are also present and effect treatment options for each person.

Diagnosis

• The diagnosis of PFFD requires the presence of a shortened femur with proximal femoral deficiency.
• Deficiency of iliofemoral articulation, leg length discrepancy, limb malrotation, and varus deformity at the sub-trochanteric level may also be seen .
• These features are truly shown on radiographic assessment, thus permitting definite classification even during the first year of life, as shown in our index patients..

Treatment

• Management of CFD requires a multidisciplinary team of specialists, which may include a pediatric orthopedic surgeon, prosthetist, and physical therapist.
• The main goal of treatment is to maximize function and mobility.
• Due to the range of severity and potential abnormalities affecting other bones or joints, there is no single treatment approach that applies to all cases.
• However, almost all people with CFD will need some combination of non-surgical, surgical, and orthotic treatment.
• Examples of possible surgical treatment options include reconstruction and limb-lengthening in those with reconstructable hip and knee joints, and amputation and/or rotationplasty for use of a prosthesis.

NIH genetic and rare disease info

• NIH info on Congenital femoral deficiency

Congenital femoral deficiency is a rare disease.

Congenital femoral deficiency Resources
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