Living with Multiple epiphyseal dysplasia type 4
A rare inherited bone condition with joint pain, stiff joints, and foot and hand differences, starting in childhood.
Understanding Multiple epiphyseal dysplasia type 4
People with this type have pain in the hips, knees, wrists, and fingers, and sometimes limited joint movement. Hands, feet, and knees may be shaped differently, and the spine may curve (scoliosis). Adult height is slightly shorter. Early arthritis of the hip can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hip joint pain
- Joint pain and stiffness
- Limited joint movement
- Club feet (talipes equinovarus)
- Knock knees (genu valgum)
- Short stature, usually moderate
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 SLC26A2 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
GARD lists changes in the SLC26A2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive multiple epiphyseal dysplasia; edm4; epiphyseal dysplasia, multiple, type 4; med4; multiple epiphyseal dysplasia (disease) caused by mutation in slc26a2; multiple epiphyseal dysplasia with bilayered patellae
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia type 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia type 4.
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