Microspherophakia-Metaphyseal Dysplasia Syndrome

Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.

Epidemiology

It has been reported in a father and his son.

Clinical description

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.

Etiology

The condition is most probably hereditary, transmitted as an autosomal dominant trait.