Living with Namaqualand hip dysplasia
An inherited bone condition with early arthritis in the hips and other joints and mild spine changes.
Understanding Namaqualand hip dysplasia
It is a mild form of spondyloepiphyseal dysplasia. Osteoarthritis can start as early as childhood. The spine bones show mild changes, which lead to a slightly short trunk.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hip osteoarthritis
- Knee osteoarthritis
- Joint pain
- Joint stiffness
- Flattened bones of the spine (platyspondyly)
- Short stature
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 COL2A1 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
GARD lists changes in the COL2A1 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis; oscdp
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 Namaqualand hip dysplasia.
Explore research for Namaqualand hip dysplasia
Explore actively recruiting Namaqualand hip dysplasia studies with HealthSpark.
Find actively recruiting studies for Namaqualand hip dysplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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