Living with Winchester syndrome
A rare inherited condition with loss of bone, mainly in the hands and feet, along with joint problems and short stature.
Understanding Winchester syndrome
Bone loss usually begins in the hands and feet, causing pain and limiting movement. It later spreads, with joint problems in the elbows, shoulders, knees, hips, and spine. Thin, brittle bones can break more easily, and people are short in height. Some have patches of dark, thick skin, cloudy corneas, extra hair, gum overgrowth, or heart differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone loss in the hands and feet
- Thin, brittle bones (osteoporosis)
- Joint problems (arthropathy)
- Short stature
- Coarse facial features
- Gum overgrowth
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 a child inherits a changed copy of a gene from each parent (autosomal recessive). It notes Winchester syndrome and a related condition called MONA are caused by changes in different genes.
Also known as: mmp14-related multicentric osteolysis, nodulosis, and arthropathy; mona, mmp14-related; multicentric osteolysis, nodulosis and arthropathy, mmp14-related; wnchrs
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 Winchester syndrome.
Explore research for Winchester 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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