Living with Metaphyseal chondrodysplasia, Spahr type
A rare inherited bone condition with moderate short stature, increasing bowing of the legs, and a waddling walk.
Understanding Metaphyseal chondrodysplasia, Spahr type
X-rays show widened, irregular bone ends. Blood tests do not show the changes seen in rickets. Intermittent knee pain, a swayed lower back, and delayed motor skills can occur. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Bowed legs that get worse over time
- Waddling walk
- Hip dysplasia
- Scoliosis and swayed lower back
- Tooth differences and cavities
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 MMP13 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 MMP13 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: mdst
Patient organizations
- Little People of AmericaMetaphyseal chondrodysplasia, Spahr type · United States
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Perspectives from people navigating life with Metaphyseal chondrodysplasia, Spahr type.
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