Hypophosphatasia (HPP) in Children

Could 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 child’s doctor is right here.

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Can hypophosphatasia (HPP) occur before birth?

It certainly can, and that’s why it’s important to get tested if you’re experiencing symptoms of HPP.
Genetic testing can help identify whether you or your loved ones carry the gene for HPP. However, genetic testing is not necessary to diagnose HPP.

Autosomal recessive inheritance means a child needs to inherit two copies of the mutated ALPL gene—one from each parent—in order to have 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

HPP can also be passed down by autosomal dominant inheritance, in which a child only needs to inherit one copy of a mutated gene to cause HPP.

When one carrier of an autosomal dominant condition has children,
each child has a:

50%

Chance of being affected

50%

Chance of being unaffected

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Early Signs in Infants.

This form of HPP typically appears 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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Be on the lookout

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

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

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

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

Moving around buildings with stairs, including their homes

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

Carrying heavy items like backpacks, books, etc

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

Staying awake and alert at school

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