Living with Spondyloepiphyseal dysplasia, Kimberley type
A genetic bone condition with short stature and joint wear that starts earlier than usual.
Understanding Spondyloepiphyseal dysplasia, Kimberley type
People have short stature that is in proportion, with a short upper body and smaller or shorter limbs. The joints wear down earlier than usual, which is a form of arthritis. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Proportionate short stature
- Early joint wear (osteoarthritis)
- Flattened spine bones (platyspondyly)
- Short upper body (short thorax)
- Smaller or shorter limbs
- Abnormally shaped ends of 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 ACAN 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 ACAN gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: spondyloepiphyseal dysplasia kimberley type
Patient organizations
- Little People of AmericaSpondyloepiphyseal dysplasia, Kimberley type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia, Kimberley type.
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