Living with Metaphyseal chondrodysplasia, Jansen type
A rare inherited bone condition with short limbs, bowed legs, and high blood calcium.
Understanding Metaphyseal chondrodysplasia, Jansen type
Bone changes near the ends of long bones are often found in childhood on imaging. People may have a waddling walk, bowed legs, stiff joints, and short hands with clubbed fingers. They also have high blood calcium (not caused by parathyroid hormone), high urine calcium, and mildly low phosphate. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short limbs and short stature
- Bowed long bones
- Waddling walk
- Small lower jaw (micrognathia)
- Thin, weak bone (osteopenia)
- Wide-set eyes and high palate
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 PTH1R 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 and other patient organizations
- 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 PTH1R gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: jansen disease; jansen metaphyseal chondrodysplasia; jansen metaphyseal dysostosis; jansen type metaphyseal chondrodysplasia; jansen's metaphyseal chondrodysplasia; metaphyseal chondrodysplasia murk jansen type
Patient organizations
- Little People of AmericaMetaphyseal chondrodysplasia, Jansen type · United States
- The Jansen’s FoundationMetaphyseal chondrodysplasia, Jansen type · United States
You are more than your diagnosis
Perspectives from people navigating life with Metaphyseal chondrodysplasia, Jansen type.
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