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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 3026
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.
It has been reported in a father and his two daughters.
The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb.
The condition is most probably hereditary, transmitted as an autosomal dominant trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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