Living with Ulna metaphyseal dysplasia syndrome
A rare bone condition with swelling at the wrists and changes in forearm and hand bones, usually noticed in the teen years.
Understanding Ulna metaphyseal dysplasia syndrome
People usually have bony swelling at the wrists, with or without pain. The knees and ankles may be affected too. Other features that vary include flattened spine bones, delayed bone development, short stature, and hip differences. It usually appears in the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Changes in the forearm bone (ulna)
- Bony swelling at the wrists
- Hand bone differences
- Delayed bone maturation
- Short stature
- Spine and hip bone differences
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 (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: metaphyseal chondrodysplasia, rosenberg type; rosenberg-lohr 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 Ulna metaphyseal dysplasia syndrome.
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