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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2724
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.
Less than ten cases have been reported so far.
Three of the reported patients manifested multiple odontomas. Occasionally, cardiac (stenosis of the intrathoracic descendent aorta, interstitial myocarditis), renal (pyelonephritis) and hepatic (hepatic sclerosis) involvement has been described.
Hypertrophy and dysmotility of the esophageal smooth muscles is suggested to have causative role for dysphagia.
In several cases, autosomal dominant inheritance has been suspected. Currently, there are no genes associated with this condition.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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