Spherophakia and Metaphyseal Dysplasia

Clinical Characteristics
Ocular Features: 

The corneas and anterior chambers were normal in the son but the lenses were small and spherical and had colobomatous defects.  The father developed a retinal detachment in one eye and elevated intraocular pressure. The morphology of the lenses in the father is unknown.

Systemic Features: 

The diaphyses of the long bones are thickened with relative sparing of the small bones in the extremities.  The epiphyses become more irregular later in life.  The vertebrae are deformed with flattening.  The result is brachymelia and moderately severe dwarfism.  Pigeon breast deformity can be present.


A father and son have been reported with this combination of findings suggesting autosomal dominant inheritance.  No locus or mutation has been identified.

Treatment Options: 


Article Title: 


Verloes A, Van Maldergem L, de Marneffe P, Dufier JL, Maroteaux P. Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. J Med Genet. 1990 Jul;27(7):467-71.

PubMedID: 2395168