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Ramos-Arroyo syndrome

Disease definition

Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.


  • Synonym(s):
    • Corneal anesthesia-deafness-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 122430
  • UMLS: C2930866
  • MeSH: -
  • GARD: 4636
  • MedDRA: -

Detailed information


Additional information

Further information on this disease

Specialised Social Services

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