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Polydactyly-myopia syndrome

Disease definition

Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.

ORPHA:2917

Classification level: Disorder
  • Synonym(s):
    • Czeizel-Brooser syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: 174310
  • UMLS: C1868117
  • MeSH: -
  • GARD: 4413
  • MedDRA: -
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