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External auditory canal atresia-vertical talus-hypertelorism syndrome

Disease definition

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.


Classification level: Disorder
  • Synonym(s):
    • Rasmussen-Johnsen-Thomsen syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Unknown or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 133705
  • UMLS: C2930867
  • MeSH: C535290
  • GARD: 4638
  • MedDRA: -
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