Living with Spondylometaphyseal dysplasia, Schmidt type
A genetic bone condition with short stature, nearsightedness, a curving spine, and knock knees.
Understanding Spondylometaphyseal dysplasia, Schmidt type
People have short stature, nearsightedness (myopia), and a small pelvis. The spine curves more over time, and the wrists may be deformed. Knock knees can be severe, and long bones are short. Signs may appear at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature with a short trunk
- Nearsightedness (myopia)
- Curved spine (scoliosis)
- Knock knees (genu valgum)
- Hip problems (coxa vara, hip dysplasia)
- Short pelvis bones
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 COL2A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 Kniest SED Group
- 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 COL2A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: smdalg; spondylometaphyseal dysplasia algerian type; spondylometaphyseal dysplasia schmidt type; spondylometaphyseal dysplasia with severe genu valgum; spondylometaphyseal dysplasia, algerian type
Patient organizations
- Kniest SED GroupSpondylometaphyseal dysplasia, Schmidt type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondylometaphyseal dysplasia, Schmidt type.
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