Living with Hyperphosphatasemia tarda
A rare bone condition, also called van Buchem disease, with thickened bones of the skull, jaw, and limbs that can press on nerves.
Understanding Hyperphosphatasemia tarda
It also affects bones of the hands and feet. A thicker skull can squeeze cranial nerves (nerves of the head), causing weakness or loss of function that comes and goes. It begins in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened skull bone
- Facial weakness (facial palsy)
- Hearing loss from inner ear changes
- Large lower jaw
- Generalized bone hardening
- Collarbone differences
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 SOST are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 SOST gene cause this condition. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: endosteal hyperostosis; hyperostosis corticalis generalisata; hyperphosphatasia tarda; leontiasis ossea generalisata; van buchem disease; van buchem disease type 1
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperphosphatasemia tarda.
Explore research for Hyperphosphatasemia tarda
Explore actively recruiting Hyperphosphatasemia tarda studies with HealthSpark.
Find actively recruiting studies for Hyperphosphatasemia tarda 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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