Living with Spondyloepimetaphyseal dysplasia with joint laxity, type 3
A rare genetic condition of the bones and joints, with dislocated hips and knees from birth.
Understanding Spondyloepimetaphyseal dysplasia with joint laxity, type 3
People are born with dislocated hips and knees. Joints are very loose, the spine may curve (scoliosis), and the bones in the hands and feet are slender. Bone growth may be delayed, and the wrist and ankle bones may be poorly developed. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dislocated hips and knees
- Very loose (double-jointed) joints
- Curved spine (scoliosis)
- Small wrist bones
- Delayed bone growth
- Delayed walking
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 EXOC6B 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
A change in the EXOC6B gene causes this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: semdjl3; semdjl3 - spondyloepimetaphyseal dysplasia with joint laxity type 3; spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6b type; spondyloepimetaphyseal dysplasia with joint laxity type 3; spondyloepimetaphyseal dysplasia with joint laxity, exoc6b type
Patient organizations
- Little People of AmericaSpondyloepimetaphyseal dysplasia with joint laxity, type 3 · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia with joint laxity, type 3.
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