Overview
Odontomatosis-aortae esophagus stenosis syndrome (also known as odontoma-dysphagia syndrome or Ekman-Westborg-Julin syndrome, Orphanet code 2724) is an extremely rare condition that involves the combination of multiple odontomas (benign tooth-like growths in the jaw), narrowing of the aorta (the body's main artery), and narrowing of the esophagus (the tube that carries food from the mouth to the stomach). The odontomas are classified under ICD-10 as benign neoplasms of the jaw bone (D16.5). Patients may develop numerous small, abnormal tooth-like structures in the jawbones, which can interfere with normal tooth development and eruption. The esophageal stenosis can cause difficulty swallowing (dysphagia), while aortic involvement may lead to cardiovascular symptoms such as high blood pressure or reduced blood flow. Because this syndrome is so rare, with only a handful of cases described in the medical literature, the full spectrum of symptoms and the underlying cause are not completely understood. Treatment is generally focused on managing each component of the syndrome individually. Odontomas are typically removed surgically by an oral surgeon. Esophageal narrowing may require dilation procedures or other interventions to improve swallowing. Aortic stenosis may need monitoring by a cardiologist and, in severe cases, surgical repair. Due to the rarity of this condition, management is best coordinated by a multidisciplinary team of specialists.
Also known as:
Key symptoms:
Multiple abnormal tooth-like growths in the jaw (odontomas)Difficulty swallowing (dysphagia)Narrowing of the esophagusNarrowing of the aortaDelayed or blocked eruption of normal teethJaw swelling or discomfortHigh blood pressure related to aortic narrowingChest pain or reduced exercise toleranceChoking or food getting stuck when eatingWeight loss or poor nutrition due to swallowing problems
Clinical phenotype terms (6)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Odontomatosis-aortae esophagus stenosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Odontomatosis-aortae esophagus stenosis syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Odontomatosis-aortae esophagus stenosis syndrome.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the severity of the aortic and esophageal narrowing, and how often should they be monitored?,Will the odontomas come back after surgical removal?,Are there dietary changes that can help with swallowing difficulties?,Should my family members be screened for this condition?,What emergency signs should I watch for at home?,Is genetic testing recommended to look for an underlying cause?,Can you help coordinate care among the different specialists I need to see?
Common questions about Odontomatosis-aortae esophagus stenosis syndrome
What is Odontomatosis-aortae esophagus stenosis syndrome?
Odontomatosis-aortae esophagus stenosis syndrome (also known as odontoma-dysphagia syndrome or Ekman-Westborg-Julin syndrome, Orphanet code 2724) is an extremely rare condition that involves the combination of multiple odontomas (benign tooth-like growths in the jaw), narrowing of the aorta (the body's main artery), and narrowing of the esophagus (the tube that carries food from the mouth to the stomach). The odontomas are classified under ICD-10 as benign neoplasms of the jaw bone (D16.5). Patients may develop numerous small, abnormal tooth-like structures in the jawbones, which can interfere