Living with Hypophosphatasia
An inherited condition that weakens and softens bones and teeth, with symptoms from before birth to adulthood.
Understanding Hypophosphatasia
It disrupts mineralization, the process that adds calcium and phosphorus to bones and teeth. Signs vary widely and can appear from before birth to adulthood. The most severe forms tend to occur before birth and in early infancy. In children, early loss of baby teeth is often the first sign. Adults can have softening of the bones, repeated fractures, and early loss of adult teeth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Soft, weak bones
- Repeated fractures
- Early tooth loss and tooth differences
- Bowed legs
- Short height
- Feeding and breathing problems in infants
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 ALPL 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 and other patient organizations
- 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 ALPL gene cause this condition. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: alkaline phosphatase deficiency; deficiency of alkaline phosphatase; deficiency of alkaline phosphatase (disorder) [ambiguous]; hpp; phosphoethanol-aminuria; phosphoethanolaminuria
Patient organizations
- Little People of AmericaHypophosphatasia · United States
- Soft Bones Inc.Hypophosphatasia · United States
- The Avalon FoundationHypophosphatasia · United States
- The MAGIC FoundationHypophosphatasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypophosphatasia.
Explore research for Hypophosphatasia
Explore actively recruiting Hypophosphatasia studies with HealthSpark.
Find actively recruiting studies for Hypophosphatasia 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hypophosphatasia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hypophosphatasia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hypophosphatasia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.