Living with Metaphyseal chondrodysplasia, Schmid type
A skeletal condition with short stature, short arms and legs, and bowed legs, often mistaken for rickets.
Understanding Metaphyseal chondrodysplasia, Schmid type
It causes short stature with short arms and legs and bowed legs. Other signs can include an inward curve of the lower spine, leg and joint pain, hip differences, and flared lower ribs. People may have a waddling walk. GARD says it is often mistaken for vitamin D-deficient rickets. It can start from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with short limbs
- Bowed legs (genu varum)
- Waddling walk
- Leg or joint pain
- Hip differences (coxa vara, hip dysplasia)
- Flared lower ribs
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 COL10A1 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 COL10A1 gene cause this condition. It is inherited in an autosomal dominant way. The change may be inherited or happen for the first time in the person.
Also known as: japanese type spondylometaphyseal dysplasia; mcds; metaphyseal chondrodysplasia schmid type; metaphyseal dysplasia, schmid type; schmid metaphyseal chondrodysplasia; schmid type metaphyseal dysplasia
Patient organizations
- Little People of AmericaMetaphyseal chondrodysplasia, Schmid type · United States
You are more than your diagnosis
Perspectives from people navigating life with Metaphyseal chondrodysplasia, Schmid type.
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