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Open bite malocclusion and orofacial dysfunction in patients with rare diseases
Christina Havner1,2, Åsa Mogren2,3, Lotta Sjögreen2,3
1Department of Orthodontics, Institute of Odontology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, PO Box 450, Gothenburg SE-405 30, Sweden.
European Journal of Orthodontics
|June 8, 2026
Summary
Orofacial dysfunctions (OFD) are common in rare diseases, with open bite (OB) malocclusion affecting 18%. Deviant tongue posture is a key indicator associated with OB in these patients.
Area of Science:
- Dentistry
- Rare Diseases
- Genetics
Background:
- Orofacial dysfunctions (OFD) are common in individuals with rare diseases.
- Open bite (OB) malocclusion is a specific orofacial anomaly that may be associated with OFD.
- Understanding the relationship between rare diseases, OFD, and OB is crucial for diagnosis and management.
Purpose of the Study:
- To compare orofacial dysfunctions (OFD) in individuals with rare diseases, with and without open bite (OB) malocclusion.
- To identify symptoms associated with OB in rare disease populations.
- To explore the prevalence and characteristics of OB and OFD in rare diseases.
Main Methods:
- Data from 788 individuals with 164 rare diseases were analyzed (2013-2019).
- Participants completed the Nordic Orofacial Test-Screening (NOT-S).
- Individuals were categorized with or without OB (anterior, lateral, severe anterior) and compared for OFD prevalence and associated symptoms using Odds Ratios (OR).
Main Results:
- Open bite (OB) prevalence was 18%, most commonly anterior OB (AOB).
- The OB group exhibited a higher proportion of OFD across 6/12 NOT-S domains compared to the normal vertical relation (NVR) group.
- Deviant tongue posture showed the strongest association with OB (OR 6.062).
Conclusions:
- Two-thirds of individuals with rare diseases experienced OFD, with OB being a frequent finding (18%).
- Rare diseases characterized by orofacial hypotonia, craniofacial abnormalities, and macroglossia are linked to a higher prevalence of OB.
- Deviant tongue posture is a significant predictor of OB in this patient cohort.
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