Spherophakia and Metaphyseal Dysplasia

Background and History: 

This dwarfing disorder has only been reported in one family consisting of a father and son.


Clinical Correlations: 

Short stature is obvious from birth.  The long bones of the arms and legs and the vertebrae are involved.  The chest is barrel-shaped.  The skull seems to be normally formed but the long bones in the limbs may be bowed.  The lenses of the eye that focus images on the retina are abnormally small and round.  The father in the family had an elevated pressure in at least one eye which also had a retinal detachment.  Both individuals were near-signted.


One could infer that this is an autosomal dominant condition since a father and son were affected.  However, nothing is none about any DNA changes that would confirm that this is a genetic condition.

Diagnosis and Prognosis: 

Diagnosis would require an orthopedist and an ophthalmologist with help from a medical geneticist.  No information  regarding treatment is available.

Additional Information
Autosomal dominant