Congenital femoral deficiency
Alternate names[edit | edit source]
Congenital short femur (subtype); Proximal femoral focal deficiency (subtype)
Definition[edit | edit source]
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.
Classification[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
- 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[edit | edit source]
- 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.[1].
Treatment[edit | edit source]
- 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.
References[edit | edit source]
- ↑ Uduma, F. U., Dim, E. M., & Njeze, N. R. (2020). Proximal femoral focal deficiency - a rare congenital entity: two case reports and a review of the literature. Journal of medical case reports, 14(1), 27. https://doi.org/10.1186/s13256-020-2350-y
NIH genetic and rare disease info[edit source]
Congenital femoral deficiency is a rare disease.
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