Living with X-linked osteoporosis with fractures
A rare inherited bone condition in which thin, fragile bones cause repeated fractures starting in childhood.
Understanding X-linked osteoporosis with fractures
It leads to repeated fractures of long bones and spine bones, a loss of height in adulthood, and low bone density scores. GARD says there are no other abnormalities. Females with one changed copy may be unaffected or milder.
Signs & symptoms
GARD doesn't list a common-symptom list, but its summary describes these:
- Thin, fragile bones (osteoporosis)
- Repeated long bone fractures
- Spine compression fractures
- Height loss in adulthood
- Low bone density
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 PLS3 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
Bone Health & Osteoporosis Foundation 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: Bone Health & Osteoporosis Foundation
- 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 Bone Health & Osteoporosis Foundation
- 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
X-linked osteoporosis with fractures is caused by changes in the PLS3 gene and follows X-linked inheritance.
Patient organizations
- Bone Health & Osteoporosis FoundationX-linked osteoporosis with fractures · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked osteoporosis with fractures.
Explore research for X-linked osteoporosis with fractures
Explore actively recruiting X-linked osteoporosis with fractures studies with HealthSpark.
Find actively recruiting studies for X-linked osteoporosis with fractures with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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