National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Beukes familial hip dysplasia


Other Names:
BFHD; Hip dysplasia Beukes type; Osteoarthropathy, premature degenerative, of hip; BFHD; Hip dysplasia Beukes type; Osteoarthropathy, premature degenerative, of hip; Cilliers-Beighton syndrome See More
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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]
Last updated: 10/31/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal ossification involving the femoral head and neck 0009107
Abnormality of bone mineral density 0004348
Abnormality of the epiphysis of the femoral head
Abnormality of the end part of the innermost thighbone
0010574
Broad femoral neck 0006429
Hip dysplasia 0001385
Osteoarthritis
Degenerative joint disease
0002758
5%-29% of people have these symptoms
Coxa vara 0002812
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Scoliosis 0002650
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Avascular necrosis of the capital femoral epiphysis 0005743
Childhood onset
Symptoms begin in childhood
0011463
Flat capital femoral epiphysis
Flat end part of innermost thighbone
0003370
Irregular capital femoral epiphysis
Irregular end part of innermost thighbone
0005041
Shallow acetabular fossae 0003182
Wide proximal femoral metaphysis
Wide metaphysis of innermost thighbone
0008783
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Last updated: 7/1/2020
Beukes hip dysplasia (BHD) is caused by a change or mutation in one copy of the UFSP2 gene. Genes 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]
Last updated: 10/31/2016
Beukes hip dysplasia (BHD) is inherited (runs in families) in an autosomal dominant manner. This means that having a change (mutation ) in only one copy of the responsible gene in each cell is enough to cause the symptoms of the condition. However, not everyone who inherits the mutation in the UFSP2 gene develops problems in their hip joint. This called incomplete penetrance. About 80% of the people who inherit the mutation in the UFSP2 gene will develop symptoms of BHD.[1][3]  

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. But since the condition has incomplete penetrance and there is a range in severity of symptoms, it is difficult to predict how the mutation in the UFSP2 gene will affect a person's life.[1][3] 
Last updated: 11/1/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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; http://www.omim.org/entry/142669#6.