Orphanet: Oculootodental syndrome

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Oculootodental syndrome

Disease definition

A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.


Classification level: Disorder
  • Synonym(s):
    • OOD
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: K07.8
  • OMIM: 166750
  • UMLS: C2750325
  • MeSH: -
  • GARD: -
  • MedDRA: -
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