Living with Spondyloepimetaphyseal dysplasia with multiple dislocations
A rare bone condition with short stature, loose joints, knee problems, and a flat midface.
Understanding Spondyloepimetaphyseal dysplasia with multiple dislocations
People have short stature, a flat midface, and loose ligaments. The knees become more out of line over time, and there may be a mild spine curve. Signs may begin in the newborn or infant years. Some people have a narrowed or soft voice box or windpipe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Very loose (double-jointed) joints
- Knock knees
- Curved spine
- Flat face with a flat midface
- Narrow or soft voice box (laryngeal stenosis)
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 KIF22 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 KIF22 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: semd-md; semdjl2; spondyloepimetaphyseal dysplasia with joint laxicity, hall type; spondyloepimetaphyseal dysplasia with joint laxity hall type; spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type; spondyloepimetaphyseal dysplasia with joint laxity type 2
Patient organizations
- Kniest SED GroupSpondyloepimetaphyseal dysplasia with multiple dislocations · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia with multiple dislocations.
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