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Disease Profile

Beukes familial hip dysplasia

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.

<1 / 1 000 000

US Estimated

Europe Estimated

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.


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.


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.


Not applicable


Other names (AKA)

BFHD; Hip dysplasia Beukes type; Osteoarthropathy, premature degenerative, of hip;


Congenital and Genetic Diseases; Musculoskeletal Diseases


Beukes hip dysplasia (BHD) is a rare inherited skeletal dysplasia affecting the hip joint. In general, skeletal dysplasias are a group of disorders which affect the bone and cartilage. Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height. In fact, BHD only affects the hip joint. A person with BHD is similar in height to other family members. There are no other health problems associated with BHD.[1][2][3] 

Beukes hip dysplasia (BHD) causes severe progressive degenerative osteoarthritis of the hip joint in early adulthood. Symptoms of hip joint pain and discomfort usually begin in infancy or later childhood, but may also begin as late as the mid-30s. Severity of the condition varies even among family members. In fact some people who inherit the change or mutation in the gene which causes BHD never develop any problems with their hip joint. After symptoms begin, the characteristic signs of secondary osteoarthritis (including bone sclerosis, cyst formation and narrowing of the joint space) develop and the joint deteriorates rapidly. Treatment depends on the severity of symptoms, but may include walking aids (such as a cane or walker), medication for pain or to reduce inflammation, and/or hip joint replacement surgery.[1][2]

As of 2015, BHD has only been found in relatives of a single family in South Africa who were of European descent. BHD has affected many generations and members of this family. Family members with BHD now live in other parts of the world as well.[1][2][3]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abnormal ossification involving the femoral head and neck
Abnormality of bone mineral density
Abnormality of the epiphysis of the femoral head
Abnormality of the end part of the innermost thighbone
Broad femoral neck
Hip dysplasia
Degenerative joint disease
5%-29% of people have these symptoms
Coxa vara
Hunched back
Round back

[ more ]

Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
Avascular necrosis of the capital femoral epiphysis
Childhood onset
Symptoms begin in childhood
Flat capital femoral epiphysis
Flat end part of innermost thighbone
Irregular capital femoral epiphysis
Irregular end part of innermost thighbone
Shallow acetabular fossae
Wide proximal femoral metaphysis
Wide metaphysis of innermost thighbone


Beukes hip dysplasia (BHD) is caused by a change or mutation in one copy of the UFSP2 geneGenes come in pairs (one copy from each parent) and are the blueprints or code for making proteins . Since only one copy of the UFSP2 gene is mutated, some normal UFSP2 protein is made using the other copy of the gene, just not enough. Now that the gene which causes BHD is known, medical researchers are studying how the decreased amount of the UFSP2 protein causes the degeneration of the hip joint.[1][3]


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

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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.

    In-Depth Information

    • 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.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.


      1. Watson CM, Crinnion LA, Gleghorn L, Newman WG, Ramesar R, Beighton P, and Wallis GA. Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. S Afr Med J. September 21 2015; 105(7):558-63. https://www.ncbi.nlm.nih.gov/pubmed/26428751.
      2. Cilliers HJ and Beighton P. Beukes familial hip dysplasia: an autosomal dominant entity. Am J Med Genet. August 1990; 36(4):386-90. https://www.ncbi.nlm.nih.gov/pubmed/2389793.
      3. ONeil MJ. Beukes hip dysplasia. Online Mendelian Inheritance in Man (OMIM). July 31 2015; https://www.omim.org/entry/142669#6.

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