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Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome

Disease definition

Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.

ORPHA:2972

  • Synonym(s):
    • Stoelinga-de Koomen-Davis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: No data available 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 273050
  • UMLS: C1848903  C2931509
  • MeSH: C536952  C537496
  • GARD: 5027
  • MedDRA: -

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