What's hypophosphatasia?
Hypophosphatasia is a rare inherited condition in which bone does not mineralise properly, leading to abnormalities of the skeleton and complications elsewhere in the body.
| Also indexed as | ORPHA:436, MONDO:0018570 |
|---|---|
| Features mapped | 6 |
| Treatments mapped | 1 |
| Published sources | 5 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Hypercalcemia
In severe infantile hypophosphatasia, calcium can build up to high levels in the blood, known as hypercalcemia.
Seizure
Seizures that respond to vitamin B6 have been described in an infant with this condition, alongside poor growth before and after birth, breathing failure, feeding difficulty, poorly mineralised bone, high blood calcium, and a very low alkaline phosphatase level.
Short stature
Childhood hypophosphatasia varies a good deal from person to person. It can involve bone changes resembling rickets, low bone density, short stature, muscle weakness, early fusion of the skull bones, and losing baby teeth ahead of time.
Abnormality of the dentition
In adults with hypophosphatasia, severity shows in the bones through fractures that recur or heal poorly, pseudo-fractures and softened bone. It also shows in the teeth, and in day-to-day function such as gait, pain, and needing mobility aids or changes at home.
Craniosynostosis
In childhood hypophosphatasia, the bones of the skull can fuse together too early, a problem called craniosynostosis.
Recurrent fractures
In adults, hypophosphatasia often shows as fractures that keep recurring or heal poorly.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
asfotase alfa
Asfotase alfa improves bone health, mobility, growth, and breathing, and relieves pain.
Used to help with: Hypophosphatasia.
“Asfotase alfa improves bone health, mobility, growth, and breathing ability, and relieves pain.”
How to read the evidence labels
Where this comes from
This guide is built from 5 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.