Rosenthal-Kloepfer Syndrome

Background and History: 

This syndrome, also sometimes called familial pachydermoperiostosis, is one of abnormal growth, primarily of bone and skin with clouding of the cornea.  No gene mutation has been identified.

Clinical Correlations: 

The first clinical sign of this disorder is often an opacification of the cornea (the windshield of the eye) which gradually progresses in a patchy pattern to involve almost all of this structure.  It may be seen in one eye or both.  It is often present in young children before other signs appear.  Vision may be poor as a result.  The skin of the scalp is redundant resulting in furrowing.  The bony portion of the eyebrows is enlarged.  The hands and feet are disproportionately large and most patients are tall.  X-rays reveal thickening of bones, especially of the skull, and widening of the bones in the fingers.  The skin of the hands has been described as unusually soft.


Reported pedigrees are consistent with autosomal dominant inheritance with direct parent to child transmission.  No gene mutation has been associated with this disorder.

Diagnosis and Prognosis: 

The diagnosis can be made by an ophthalmologist based on the corneal opacification but pediatricians, dermatologists, endocrinologists and orthopedists are important for verification of the diagnosis.  This is a rare disorder.  The systemic features are primarily of cosmetic significance but the loss of corneal clarity may require surgery to restore vision.  Longevity is normal.

Additional Information
Autosomal dominant