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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

Classification level: Disorder
  • Synonym(s):
    • Stoelinga-de Koomen-Davis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: No data available 
  • Age of onset: Childhood
  • ICD-10: K07.0
  • OMIM: 273050
  • UMLS: C2931509
  • MeSH: C537496
  • GARD: 5027
  • MedDRA: -

  A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Polski (2013, pdf) Russian (2013, pdf)

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.