Living with Osebold-Remondini syndrome
A rare inherited bone condition with short middle sections of the limbs, short fingers, and slightly short height, with normal intelligence.
Understanding Osebold-Remondini syndrome
People are generally slightly short in height and have normal intelligence. It was described in one family with seven affected members across three generations. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Short middle finger bones (brachymesophalangy)
- Short forearms and lower legs
- Wrist and ankle bone differences
- Slightly short height
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 says changes in genes cause this condition. It appears to be inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: bda6; brachydactyly type a6; brachydactyly, type a6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities; osebold remondini syndrome
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 Osebold-Remondini syndrome.
Explore research for Osebold-Remondini syndrome
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- Recruiting studies from ClinicalTrials.gov
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- 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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