Hypophosphatasia is a rare metabolic bone disorder characterized by decreased tissue nonspecific alkaline phosphatase and defective bone mineralization.
|Bone pain||Bone pain|
|Early loss of deciduous teeth||Early loss of deciduous (baby) teeth|
|Bone malformations||Bone malformations|
Check out this article about Claire Barrow, a 13-year old girl living with hypophosphatasia. Claire created a social media app for rare disease communities called “Rare Guru”. Rare Guru allows individuals with rare diseases to connect with others with the same condition.
HI LISAAKEI I have two different mutations but you can check your mutations out on this link. http://www.sesep.uvsq.fr/03_hypo_mutations.php Are you on facebook? there is a support page for hypophosphatasia people.. https://www.facebook.com/groups/softbones/ I'm Sue and I have HPP too
Anyone out there have this ALPL gene mutation?
Welcome to the Hypophosphatasia RareShare Community. Feel free to post your questions or new discussion topics about this disorder on this forum. For those that haven’t yet joined this community, you will need to do so in order to post new threads or reply to current posts. It’s free and easy to signup. If you have any questions about this community or RareShare in general, please feel free to email me. You can find my email address in my profile, under the “About Me” section. -Eric
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