Hypophosphatasia

Overview

What is hypophosphatasia?

Hypophosphatasia is a rare inherited disorder that causes poor bone and teeth development. This happens because of a problem with bone mineralization. Bone mineralization is when minerals like calcium and phosphorus are placed in the bone for strength and good growth. Bones that do not have proper mineralization can be soft and break easily. They can also be formed incorrectly and cause bowing in bones. People with hypophosphatasia may also have tooth loss. There are six main forms of hypophosphatasia with varying severity of symptoms.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hypophosphatasia/overview/7902 • DATE UPDATED: 2016-06-17

References

http://rarediseases.org/rare-diseases/hypophosphatasia/

http://www.ncbi.nlm.nih.gov/books/NBK1150/

https://ghr.nlm.nih.gov/condition/hypophosphatasia

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