Living with Spondyloepimetaphyseal dysplasia, Handigodu type
A genetic bone condition with hip pain, joint problems, and, in some people, short stature.
Understanding Spondyloepimetaphyseal dysplasia, Handigodu type
GARD describes three types. Some people are of average height with painful hips. Others are short, with a short trunk and hip problems. Others have more severe bone changes in the knees, hands, and wrists. Most people cannot walk long distances. Signs may start from childhood through adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hip pain
- Limited hip movement
- Hip arthritis
- Short stature with a short trunk
- Trouble walking or running
- 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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 genes (variants) cause this condition. GARD doesn't list which gene or how it is inherited.
Also known as: handigodu joint disease; spondyloepimetaphyseal dysplasia handigodu type
Patient organizations
- Little People of AmericaSpondyloepimetaphyseal dysplasia, Handigodu type · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia, Handigodu type.
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