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Odontomatosis-aortae esophagus stenosis syndrome

Disease definition

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

ORPHA:2724

Classification level: Disorder
  • Synonym(s):
    • Boder syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: No data available
  • ICD-10: D16.5
  • OMIM: 164330
  • UMLS: C1834013
  • MeSH: C537740
  • GARD: 238
  • MedDRA: -

Summary

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.

Expert reviewer(s):  Pr Agnès BLOCH-ZUPAN - Last update: July 2009

  A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.