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Polydactyly-myopia syndrome

ORPHA:2917· ICD-10 Q87.2

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Infancy, Neonatal