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KBG syndrome

Disease definition

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

ORPHA:2332

  • Synonym(s):
    • Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 148050
  • UMLS: C0220687
  • MeSH: C537015
  • GARD: 82
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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