Living with Hip dysplasia, Beukes type
A rare inherited condition that affects only the hip joint, leading to hip pain and joint wear.
Understanding Hip dysplasia, Beukes type
People are similar in height to family members and have no other health problems tied to it. It leads to severe, worsening wear of the hip joint (osteoarthritis) in early adulthood. Hip pain and discomfort usually begin in infancy or later childhood, but may start as late as the mid-30s. Severity varies, and some people with the gene change never have hip problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hip pain and discomfort
- Hip dysplasia
- Joint wear (osteoarthritis)
- Broad femoral neck (top of the thighbone)
- Abnormal bone shape at the hip
- Changes in bone density
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in UFSP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the UFSP2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it. It has been found in one family from South Africa.
Also known as: beukes familial hip dysplasia; bfhd; cilliers beighton syndrome; cilliers-beighton syndrome; hip dysplasia beukes type; osteoarthropathy, premature degenerative, of hip
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hip dysplasia, Beukes type.
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