Hypophosphatasia (HPP) breaks more than bone.

It can harm many parts of your body.

Though people with HPP typically experience their first or most obvious symptoms in their bones and teeth, HPP can also cause problems in the brain, muscles, joints, lungs, and kidneys. Because HPP can cause so many different symptoms, people with HPP may not realize that all of their symptoms are connected to the same disease.

Some signs and symptoms people with HPP experience could include:

  • Weak or brittle bones
  • Rickets due to HPP
  • Frequent fractures, especially in the thigh bones, feet, and toes
  • Bowing of the legs
  • Fractures that do not heal properly or heal slowly
  • Bone pain that won’t go away
  • Early tooth loss before the age of 5
  • Tooth loss in which the entire tooth, with the root, painlessly slides out (this can happen in adults and children)
  • Gum disease
  • Muscle weakness
  • Long-term pain in the muscles or joints
  • Arthritis (in adults and children)
  • Pseudogout caused by deposits of calcium in the joints
  • Inability to walk without an assistive device such as crutches, a walker, or a wheelchair
  • Bones in the rib cage may not grow properly (called rachitic chest)
  • Severe breathing complications that require an assistive breathing device (especially in children)
  • Rachitic chest can lead to underdeveloped lungs (especially in children)
  • Pneumonia, an infection causing swelling inside one or both of the lungs
Signs and symptoms in the lungs can be life threatening in infants.  If your child is experiencing breathing problems that might be related to HPP, contact your doctor immediately.
  • An abnormally shaped head (called craniosynostosis) due to early closure of the bony plate of the skull
    • Multiple skull surgeries may be needed to fix craniosynostosis
  • Seizures (especially in young children)
Seizures in young children can be life threatening.  If your child is experiencing seizures that might be related to HPP, contact your doctor immediately.
  • A buildup of calcium in the kidneys
  • Calcium buildup in the kidneys can lead to kidney disease (called nephrocalcinosis) or kidney failure
Because people with HPP can have so many different signs and symptoms, sometimes it can be challenging for a doctor to diagnose a person with HPP.