Hypophosphatasia is a rare condition that affects the development of bones and teeth. Therefore, it causes several oral health problems, making early detection crucial. A research team has looked at cases of hypophosphatasia, and sought to find out how dentists can identify suspected cases of the condition at an earlier stage.
Hypophosphatasia is a rare condition that impacts the development of bones and teeth. It is a debilitating condition and causes lifelong problems for those with the condition.
Due to the impact on teeth, those with hypophosphatasia face oral health challenges from an early age and throughout their life. Therefore, there have been ongoing efforts to aid those with the condition.
Now, new research into the condition has presented findings that could help dentists in identifying suspected cases of hypophosphatasia earlier [1]. This is an exciting finding and will hopefully improve treatment outcomes for those with this condition.
What is Hypophosphatasia?
Hypophosphatasia is a rare skeletal disease which affects bones and teeth. It involves the abnormal development of the bones and teeth [2].
Hypophosphatasia is a serious condition and can cause fetal death. Some people won’t see any symptoms for several years. The earlier that the signs are spotted, the better.
The condition is caused by genetic changes to the ALPL gene [1]. It is possible for hypophosphatasia to run in families.
Those with hypophosphatasia typically have physical health symptoms like feeding and breathing problems in infancy, short stature, weak bones and short limbs [1].
Past research has underlined the oral health problems facing those with the condition. For example, one study found that when comparing those with hypophosphatasia and members of the general public, that those with hypophosphatasia had a higher chance of having severe gum disease and a higher number of teeth missing [3].
However, there have been positive developments in recent times. Enzyme replacement therapy has offered promise, with research finding that using this type of therapy can lessen the severity of oral manifestations of hypophosphatasia [4].
Therefore, having any additional research into this subject is highly desirable. By doing so, it can help support those with hypophosphatasia towards improved oral health.
The Research
The research was carried out by a team of researchers from Osaka University in Japan. Their findings have been published in the Scientific Reports journal [1].
The research involved studying Japanese patients with a diagnosis of hypophosphatasia. The researchers have carried out similar studies once every five years since 2013 [1].
This was the largest study yet on hypophosphatasia in terms of participants – with the researchers collecting data from 103 cases of hypophosphatasia across 30 clinics [1].
By having such a huge number of cases, the research team were able to break them down into two groups. One group whose symptoms involved only teeth – called the odonto-type disease, and those who had other symptoms, termed “non-odonto type disease” [1].
Clinical dental records were studied in order to identify common oral symptoms of the condition. Moreover, the researchers were particularly interested in seeing how the cases differed between the two groups.
When comparing the groups, they were looking at many different factors. Finding trends in these factors allowed them to make conclusions.
They found that those with odonto-type hypophosphatasia were more likely to lose their first teeth early [1]. This is a clear indication of hypophosphatasia, and with this type involving teeth, the link makes sense.
Those with the non-odonto-type disease were likelier to have tooth misalignment and tooth hypomineralization, which refers to enamel on the outside of the teeth softening [1]. This can make someone more prone to tooth decay.
Moreover, the researchers found that the non-odonto-type disease were also likelier to engage in poor oral habits like finger sucking and tongue thrusting [1].
Moreover, they were likelier to have problems with swallowing [1]. Therefore, those with the non-odonto-type disease faced more oral health problems.
The role of dentists
Dentists have an important role to play. Some people are unaware that dentists are also trained to look for the symptoms of various conditions. For example, dentists can identify the signs of oral cancer, such as tumors.
Furthermore, this extends to dentists being able to spot the signs of hypophosphatasia. Sometimes it will be dentists that are the first to notice this condition.
One of the study’s authors – Kazuhiko Nakano – said that the trends observed in this study “will be helpful for dentists who might come across patients with hypophosphatasia in their clinics” [5].
Furthermore, Nakano posited that “improved knowledge of the various ways this disease presents will lead to better diagnostic rates and earlier treatments for affected patients” [5].
Summary
Overall, the study showed that both types of hypophosphatasia cause oral health problems. However, the problems for those with the non-odonto-type version of hypophosphatasia had more difficulties [1].
Rena Okawa was the lead author of the study. Okawa mentioned that the team were “surprised to see big differences in oral manifestations between the two groups” [5].
With that said, it should be noted that both types are debilitating, and irrespective of the quantity of problems, the condition puts patients at high risk of oral health problems.
Research like this is very helpful and aids towards raising awareness and improved diagnostic rates. Hopefully these continuous efforts will result in improved treatment outcomes and quality of life for those with hypophosphatasia.
Thinking points…
1) As shown above, dentists have an important role to play with overall health. By examining your mouth, they can look out for the signs and symptoms of key illnesses and conditions. Therefore, we strongly recommend attending check-ups regularly. Check-ups ensure that a dentist can take a thorough look at your oral health and check for any warning signs of various conditions. We recommend booking an appointment now!
2) Do you know anyone with hypophosphatasia? If so, this article could be of interest to them. You could share this with them now! However, perhaps you’d never heard of this condition before? You could share this knowledge with friends and family, why not send them the link to this article now?
What we offer at Savanna Dental
Savanna Dental is a dental clinic based in Calgary, Alberta, Canada. We provide our patients with a range of treatment options and advice, with the aim of improving oral health and boosting overall wellbeing!
We advise our patients to attend our Calgary-based dental clinic twice a year for a dental check-up. If any problems are detected, we have many treatments available. For instance, these include cavity fillings and root canals. To try and prevent problems, it is important to brush your teeth at least twice a day and floss regularly.
Here at Savanna Dental, we also have some cosmetic treatments available! These include dental implants, tooth whitening and Invisalign™! Our patients find that these treatments have a positive impact on their appearance, confidence and self-esteem.
In addition, the fees of our services at our Calgary dental clinic Savanna Dental are set in line with the Alberta Dental Fee Guide.
We would love you to visit our Savanna Dental clinic in Calgary! You can find out more about us by visiting our website https://savannadentalclinic.ca/!
References
[1] Okawa, R., Kadota, T., Kurosaka, H., et al. (2025). Japanese nationwide dental survey of hypophosphatasia reveals novel oral manifestations. Scientific Reports. 15 (6743). DOI: https://doi.org/10.1038/s41598-025-91043-7.
[2] Genetic and Rare Diseases Information Center. (2025). Hypophosphatasia. Available: https://rarediseases.info.nih.gov/diseases/6734/hypophosphatasia. Last accessed: 14th March 2025.
[3] Weider, M., Schlagenhauf, U., & Seefried, L. (2022). Oral health status of adult hypophosphatasia patients: A cross-sectional study. Journal of Clinical Periodontology. 49 (12): p1253-1261. DOI: https://doi.org/10.1111/jcpe.13718.
[4] Smart, G., Jensen, E. D., Poirier, B., & Sethi, S. (2023). The impact of enzyme replacement therapy on the oral health manifestations of hypophosphatasia among children: a scoping review. European Archives of Paediatric Dentistry. 24: p429-440. DOI: https://doi.org/10.1007/s40368-023-00796-0.
[5] Osaka University. (2025). Hard evidence of soft teeth: the oral symptoms of hypophosphatasia. Available: https://www.asiaresearchnews.com/content/hard-evidence-soft-teeth-oral-symptoms-hypophosphatasia. Last accessed: 14th March 2025.
