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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.
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Age of onset
Childhood
ICD-10
Q65.8
Inheritance
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.
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.
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;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Beukes hip dysplasia (BHD) is a rare
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
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]
Symptoms
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:
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 |
0002650 | ||
Percent of people who have these symptoms is not available through HPO | ||
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 |
Cause
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
-
International Hip Dysplasia Institute
1222 S. Orange Ave., 5th Floor
Orlando, FL 32806
Fax: (321) 843-5298
E-mail: https://www.hipdysplasia.org/about/contact/
Website: https://www.hipdysplasia.org/
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.
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.
References
- 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.
- 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.
- 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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