Congenital femoral deficiency
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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
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.
Other Names (AKA)
Congenital short femur (subtype); Proximal femoral focal deficiency (subtype)
Congenital and Genetic Diseases; Musculoskeletal Diseases
The underlying cause of CFD typically is not known, but it does not appear to be
Management of CFD requires a multidisciplinary team of specialists, which may include a pediatric orthopedic surgeon, prosthetist, and
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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.
- The Children's Hospital of Philadelphia offers information on Congenital femoral deficiency.
Proximal Femoral Focal Deficiency
Congenital Short Femur
- The Pediatric Orthopaedic Society of North America (POSNA) provides information about this condition.
- 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.
- 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.
- Congenital Short Femur. Children's Hospital of Philadelphia. https://www.chop.edu/conditions-diseases/congenital-short-femur. Accessed 5/16/2018.
- Proximal Femoral Focal Deficiency. Children's Hospital of Philadelphia. https://www.chop.edu/conditions-diseases/proximal-femoral-focal-deficiency. Accessed 5/16/2018.
- Agarwal AK. Proximal Femoral Focal Deficiency. Medscape Reference. Dec 06, 2016; https://emedicine.medscape.com/article/1248323-overview.