Living with Osteosclerotic metaphyseal dysplasia
A rare bone condition with dense bone at the ends of long bones, along with developmental delay and low muscle tone.
Understanding Osteosclerotic metaphyseal dysplasia
The skull is usually not affected. The condition is linked to developmental delay and low muscle tone. Seizures and stiffness in the legs have also been reported. Blood and urine tests for bone turnover may be raised. GARD lists infancy as the usual time of onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dense bands of bone near the ends of long bones
- Delayed development overall
- Low muscle tone (hypotonia)
- Slow weight gain (failure to thrive)
- Reduced reflexes
- Hardened spine bone edges
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 LRRK1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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 LRRK1 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: osmd
Patient organizations
- Little People of AmericaOsteosclerotic metaphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Osteosclerotic metaphyseal dysplasia.
Explore research for Osteosclerotic metaphyseal dysplasia
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