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Acrootoocular syndrome

Disease definition

A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.

ORPHA:2980

Classification level: Disorder
  • Synonym(s):
    • Pseudopapilledema-blepharophimosis-hand anomalies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: Q87.0
  • OMIM: 264475
  • UMLS: C1849661
  • MeSH: -
  • GARD: 4559
  • MedDRA: -
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