Rare Nephrology News

Disease Profile

Congenital femoral deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

Antenatal

ICD-10

Q72.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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. 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.[1] 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.[1]

The underlying cause of CFD typically is not known, but it does not appear to be inherited.[1][2][3] 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.[2][3] Taking the drug thalidomide during pregnancy can cause CFD and other limb deficiencies in an unborn child.[3]

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.[1][4] However, almost all people with CFD will need some combination of non-surgical, surgical, and orthotic treatment.[1] 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.[1][4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

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      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

          References

          1. Olgun ZD, Liu RW. Congenital Femoral Deficiency (Proximal Femoral Focal Deficiency). Pediatric Orthopaedic Society Of North America (POSNA). April 15, 2017; https://posna.org/Physician-Education/Study-Guide/Congenital-Femoral-Deficiency-(Proximal-Femoral-Fo.
          2. Congenital Short Femur. Children's Hospital of Philadelphia. https://www.chop.edu/conditions-diseases/congenital-short-femur. Accessed 5/16/2018.
          3. Proximal Femoral Focal Deficiency. Children's Hospital of Philadelphia. https://www.chop.edu/conditions-diseases/proximal-femoral-focal-deficiency. Accessed 5/16/2018.
          4. Agarwal AK. Proximal Femoral Focal Deficiency. Medscape Reference. Dec 06, 2016; https://emedicine.medscape.com/article/1248323-overview.