The ADA Highlights the Role of Dentistry in Managing Rare Diseases

By Genni Burkhart, Editor

About 30 million Americans are living with rare diseases. Worldwide, more than 10,000 rare diseases have been identified, yet fewer than 5% have approved treatments. As a result, patients can spend years navigating insurance, referrals, extensive testing, and invasive procedures before receiving a diagnosis and beginning specialized care. What often receives less attention is the role dentistry plays throughout that journey. Because many rare diseases affect the mouth, teeth, jaws, and face, dentists should play a role in diagnosis, treatment planning, disease management, and long-term patient care.

To address this connection, The Journal of the American Dental Association (JADA) made oral health and rare diseases the focus of its June 2026 cover story. The special issue includes a comprehensive review of research published between 1990 and 2026, introducing a new framework for grouping rare diseases with similar oral health findings. Ultimately, the goal is to help clinicians better recognize, manage, and coordinate care for patients with rare, complex conditions.

Historically, conversations about oral and overall health have focused primarily on common conditions such as diabetes, heart disease, osteoporosis, and respiratory illnesses. Those connections should remain important. What JADA points out is that rare diseases deserve the same attention. While each rare disease affects a relatively small number of people, together they impact millions whose oral health is closely connected to their overall quality of life. And while most dentists don't specialize in rare diseases, they are likely to encounter patients living with these conditions.

The Dental Difference

Unfortunately, rare diseases can be challenging for the healthcare system to identify and manage. Care often involves multiple providers, making communication and coordination especially important. While dentists don't diagnose medical conditions in patients, JADA notes they're well-positioned to recognize unusual findings and take action. For example, changes in teeth, oral tissues, or facial features provide clues. Identifying these signs and referring patients to specialists can lead to a quicker diagnosis and proper care.

Furthermore, rare diseases can affect tooth development, enamel and dentin formation, periodontal health, saliva, and facial growth. Some can also affect eating, speaking, breathing, or a patient’s ability to maintain oral health. Because of this, dentists play a critical role in managing rare conditions rather than simply addressing oral concerns after medical treatment has begun.

JADA also emphasizes that caring for patients with rare diseases requires collaboration between dentists, physicians, geneticists, surgeons, and other specialists. Essentially, when all of the patient's providers communicate and treatment plans are coordinated, they're more likely to have better outcomes.

Small Findings, Big Implications

Oral signs can sometimes be subtle, but they may also provide important clinical information. Tuberous Sclerosis Complex (TSC) is one example of how routine dental examinations can contribute to overall medical care. Approximately 90% of people with TSC have pits in their tooth enamel, compared with about 7% of the general population. Patients may also develop gingival growths that require monitoring or treatment. These findings alone don't confirm TSC, but when combined with other clinical signs, they may indicate the need for additional genetic testing. Preventive care, good oral hygiene, sealants, and regular dental visits remain important throughout a patient’s life, but for those with TSC, dentists play a significant role long after an initial diagnosis.

A Greater Shift In Healthcare

Although JADA’s issue focuses on patients with rare diseases, the message applies to all patients. Dentistry and medicine are increasingly interconnected as healthcare providers better recognize systemic health. In fact, the CareQuest Institute reports that approximately 27 million Americans visit a dentist each year without seeing a physician, placing dentists in a unique position to identify health concerns that may otherwise go unnoticed.

This type of collaboration is already taking place in cancer care. At the University of Colorado Anschutz, every patient scheduled for head and neck radiation must receive dental clearance before treatment begins. Dentists and radiation oncologists work together to identify infections, severe cavities, periodontal disease, and teeth that may not withstand radiation therapy. The goal is to reduce the risk of serious complications, including osteoradionecrosis, and help patients begin cancer treatment without unnecessary delays. Essentially, referral systems and shared treatment plans allow dentists to remain involved in the patient’s care.

Oral Health Influences Overall Health

As the systemic health conversation gains traction, research continues to link oral care to whole-body wellness. Healthcare is beginning to move beyond a model that primarily focuses on treating disease after it develops. Instead, it's shifting to prevention, early intervention, and factors that influence health long before symptoms appear. That shift is especially important for patients with rare diseases, who often require coordinated care across multiple healthcare disciplines. Rising rates of chronic disease, escalating healthcare costs, and evolving policy are all accelerating that change. As a result, medicine and dentistry are beginning to work more collaboratively, breaking down the barriers that have traditionally kept the two professions separate.

For example, a 2026 study of nearly 48,000 veterans with compensated cirrhosis found that those who received regular dental care experienced better health outcomes. Annual dental visits were associated with a 27% lower risk of liver cancer, fewer liver complications, and fewer hospital stays.

These benefits were linked to dental care itself, rather than simply reflecting that healthier patients were more likely to seek preventive services. As such, regular dental visits, focused on prevention and early intervention, may also play an important role in supporting patients with complex medical needs, including those living with rare diseases.

Looking Beyond The Diagnosis

JADA's special issue doesn't suggest dentists need to become experts in rare diseases. Instead, it focuses on the practical ways dentists are already contributing to patient care. Recognizing unusual findings, knowing when to refer patients, collaborating with medical colleagues, and supporting patients with a unique medical diagnosis are critical to providing comprehensive oral healthcare.

While rare diseases may each affect a small number of people, together they impact millions who need support from their dentist. For many of those patients, oral health is more than just routine dental care. It's another opportunity to recognize disease, improve communication among medical providers, and ensure that treatment decisions consider the whole patient.

Author: With over 16 years as a published journalist, editor, and writer, Genni Burkhart's career has spanned politics, healthcare, law, business finance, technology, and news. She resides in Northern Colorado, where she works as the editor-in-chief of the Incisor at DOCS Education.

References

1. Thomas D, Wright JT. Rare diseases: Challenges for optimal oral health. The Journal of the American Dental Association. 2026;157:569-575.
2. Rout P, Thomas A. Tuberous Sclerosis Complex. Updated June 2, 2025. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538492/
3. Zhao W, Wu C, Fan Y, et al. An agentic system for rare disease diagnosis with traceable reasoning. Nature. 2026;651:775-784. doi:10.1038/s41586-025-10097-9.
4. Tuberous Sclerosis Alliance. Teeth and Tuberous Sclerosis Complex. Available from: https://www.tscalliance.org/understanding-tsc/clinical-manifestations/teeth/
5. Bajaj JS, et al. Dental care and outcomes among patients with compensated cirrhosis. Journal of Hepatology Reports. 2026.
6. Ramsey L. Dental Medicine is a Critical Partner in Cancer Care. CU Anschutz School of Dental Medicine. June 9, 2026.