HYPOPHOSPHATASIA (HPP) IN CHILDREN

Does my child have HPP?

HPP is rare but can greatly impact childhood growth and development.

That’s why early diagnosis is key—and the information you need to talk to your doctor is right here.

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LIESL AND HER DAUGHTER,
ADELINE, BOTH LIVING
WITH HPP

Can HPP be diagnosed before birth?

It certainly can. HPP can occur at any age, which is why it’s important to talk to your doctor if you’re experiencing symptoms of HPP. Genetic testing can help identify whether you or your loved ones carry the gene for HPP. While genetic testing may help confirm a diagnosis, it is not necessary in order to diagnose HPP.

HPP can be inherited in either an autosomal recessive or an autosomal dominant pattern.
Autosomal means the genetic change is located on a gene that does not determine the sex of the child.

Autosomal recessive inheritance means a child needs to inherit two copies of the changed ALPL gene—one from each parent—in order to have HPP. HPP can also be passed down by autosomal dominant inheritance, in which a child only needs to inherit one copy of a changed gene to cause HPP.

When two carriers of an autosomal recessive condition have children, each child has a:

  • 25% chance of being affected
  • 50% chance of being an unaffected carrier, like each parent
  • 25% chance of being unaffected and not a carrier

In autosomal dominant inheritance, a child only needs to inherit one copy of the
changed gene to cause HPP. In this case, the child inherits a normal ALPL gene from one parent and a changed ALPL gene from the other. In this case, each child has a:

  • 50% chance of being affected
  • 50% chance of being unaffected
Find Support
LIESL Testimony
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The doctors explained to me that there is a fifty percent chance that any baby I was to have would have hypophosphatasia as well.”

LIESL (SECOND FROM RIGHT), LIVING WITH HPP,
PICTURED WITH HER FAMILY

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Early Signs in Infants

This form of HPP typically shows in infants before 6 months of age. Development may seem normal, but an issue with feeding or inadequate weight gain, as well as seizures, may be signs.

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What could HPP look like in children and teens?

Choose an activity below to explore more:

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    In addition to delayed motor milestones and pain during physical activities, children with HPP may also have trouble with:

    • Keeping up with friends or getting around school

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    • Standing comfortably for more than a short amount of time or standing from a sitting position

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    • Moving around buildings with stairs, including their homes

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    • Carrying heavy items like backpacks, books, etc

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    • Staying awake and alert at school

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