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Acro-fronto-facio-nasal dysostosis

Disease definition

Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.


  • Synonym(s):
    • Richieri-Costa-Colletto syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q75.1
  • OMIM: 201180
  • UMLS: C1860118
  • MeSH: -
  • GARD: 484
  • MedDRA: -

Additional information

Specialised Social Services

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