Living with Diaphyseal medullary stenosis-bone malignancy syndrome
A very rare inherited bone condition with bone damage, fractures, and a risk of a bone cancer.
Understanding Diaphyseal medullary stenosis-bone malignancy syndrome
It is described as a bone dysplasia/cancer syndrome. Clinical features include areas of bone damage from poor blood supply (bone infarctions), abnormal growth of the outer bone layer, fractures caused by weakened bone, and a type of bone cancer called bone sarcoma (malignant fibrous histiocytoma).
Signs & symptoms
GARD's list of less common features includes:
- Bone infarctions (bone damage from poor blood supply)
- Fractures from weakened bone
- Bone sarcoma
- Easy bruising
- Thin, soft skin
- Early graying of hair
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, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in MTAP 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); Cancer specialists (oncologists); 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 MTAP gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: bone dysplasia with malignant fibrous histiocytoma; bone dysplasia with medullary fibrosarcoma; bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; dms-mfh; hardcastle 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 Diaphyseal medullary stenosis-bone malignancy syndrome.
Explore research for Diaphyseal medullary stenosis-bone malignancy syndrome
Explore actively recruiting Diaphyseal medullary stenosis-bone malignancy syndrome studies with HealthSpark.
Find actively recruiting studies for Diaphyseal medullary stenosis-bone malignancy syndrome 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Diaphyseal medullary stenosis-bone malignancy syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Diaphyseal medullary stenosis-bone malignancy syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Diaphyseal medullary stenosis-bone malignancy syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.