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Fountain syndrome

Disease definition

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.


  • Synonym(s):
    • Deafness-skeletal dysplasia-coarse face with full lips syndrome
    • Deafness-skeletal dysplasia-lip granuloma syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 229120
  • UMLS: C0795944
  • MeSH: C537270
  • GARD: 64
  • MedDRA: -

Detailed information


Additional information

Specialised Social Services

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