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Microspherophakia-metaphyseal dysplasia syndrome
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
ORPHA:2551Classification level: Disorder
It has been reported in a father and his son.
Bone dysplasia is characterized by diaphyseal thickening of the long bones, metaphyseal deformation and epiphyseal irregularities. Eye defects consisted of myopia, microspherophakia, lens coloboma and luxation, and retinal detachment. The affected patients have normal mental development.
The condition is most probably hereditary, transmitted as an autosomal dominant trait.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf)
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