World Hypophosphatasia Day aims to spread awareness for a rare progressive metabolic bone disease. Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding.
Symptoms of HPP vary widely, but can include:
* Bowed (curved) arms and legs.
* Short stature.
* In babies, failure to grow or gain weight as they should.
* Fused skull bones. …
* Soft, weak, or deformed bones, also called rickets.
* Wider than normal wrist and ankle bones.
* Breathing issues due to problems with chest and rib bones.
X-rays, MRIs, and CT scans can help diagnose HPP at all stages of life—from birth into adulthood. They can also help determine the severity of the condition based on how affected bones are. X-rays: X-rays can reveal bone abnormalities common in childhood HPP and severe forms of perinatal and infantile HPP types.