Living with Hyperphosphatasemia with bone disease
A bone growth condition, also called juvenile Paget disease, with enlarged, misshapen bones that break easily.
Understanding Hyperphosphatasemia with bone disease
Bones become abnormally large, misshapen, and easy to break. Signs appear in infancy or childhood and often worsen during the teen growth spurt. The whole skeleton is affected, causing bone and joint pain. A thick skull can lead to hearing loss. Other features can include a curved spine, bowed legs, short height, delayed development, tooth problems, and vision problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone and joint pain
- Easy fractures
- Bowed long bones
- Larger, thicker skull
- Hearing loss
- Short height
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 TNFRSF11B 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
Changes in the TNFRSF11B gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: chronic congenital idiopathic hyperphosphatasemia; familial hyperphosphatasia; familial idiopathic hyperphosphatasemia; familial osteoectasia; hereditary hyperphosphatasia; hyperostosis corticalis deformans juvenilis
Patient organizations
- Bone Health & Osteoporosis FoundationHyperphosphatasemia with bone disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperphosphatasemia with bone disease.
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