Odontomatosis-Aortae Esophagus Stenosis Syndrome

Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.

Epidemiology

Less than ten cases have been reported so far.

Clinical description

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.

Etiology

Hypertrophy and dysmotility of the esophageal smooth muscles is suggested to have causative role for dysphagia.

Genetic counseling

In several cases, autosomal dominant inheritance has been suspected. Currently, there are no genes associated with this condition.