Living with X-linked spondyloepimetaphyseal dysplasia
A rare genetic bone and joint condition that affects the spine and long bones, causing bowed legs and a waddling walk.
Understanding X-linked spondyloepimetaphyseal dysplasia
GARD gives little detail on this condition beyond that it is an X-linked form of spondyloepimetaphyseal dysplasia, a group of bone growth conditions. Listed features involve the spine, long bones, hands, hips and joints.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very flexible joints (joint hypermobility)
- Extra inward curve of the lower spine
- Flattened bones of the spine (platyspondyly)
- Outward bowing of the legs (genu varum)
- Short fingers or toes (brachydactyly)
- Waddling walk
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 BGN 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 BGN gene cause this condition. It is inherited in an X-linked way, meaning the gene is on the X chromosome.
Also known as: spondyloepimetaphyseal dysplasia, x-linked; spondyloepimetaphyseal dysplasia, x-linked, x-linked recessive
Patient organizations
- Kniest SED GroupX-linked spondyloepimetaphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked spondyloepimetaphyseal dysplasia.
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