Living with Spondylometaphyseal dysplasia, Kozlowski type
A genetic bone condition with a short trunk, bow legs, a waddling walk, and early joint wear.
Understanding Spondylometaphyseal dysplasia, Kozlowski type
It usually starts in early childhood with poor growth, bow legs, and a waddling walk. Early arthritis is common. Hands and fingers are small, and the spine may be curved. X-rays show short spine bones and changes in the pelvis and hips.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature with a short trunk
- Bow legs (genu varum)
- Early arthritis
- Curved spine (scoliosis)
- Short fingers and toes
- Flattened spine bones (platyspondyly)
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 TRPV4 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 TRPV4 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dysmorphism arthrogryposis skeletal maturation advanced; jequier-kozlowski syndrome; kozlowski spondylometaphyseal dysplasia; skeletal dysplasia jequier-kozlowski type; smd kozlowski type; smdk
Patient organizations
- Little People of AmericaSpondylometaphyseal dysplasia, Kozlowski type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondylometaphyseal dysplasia, Kozlowski type.
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