Van Buchem disease type 2 (VBCH2)

Overview

Van Buchem disease type 2 (VBCH2) phenotype can be caused by mutation in the LRP5 gene. Van Buchem disease, type 2 is an autosomal dominant, high bone density disorder. The autosomal dominant inheritance of VB type 2 is clearly in contrast with the diagnosis of Van Buchem disease.

Symptoms

The list of signs and symptoms mentioned in various sources for Van Buchem Disease Type 2 includes the symptoms listed below:

• increased bone density
• osteosclerosis of the skull
• enlarged mandible

Causes

Van Buchem disease type 2 (VB type2) phenotype can be caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5 gene). The autosomal dominant inheritance of VB type 2 is clearly in contrast with the diagnosis of Van Buchem disease, theretofore recognized to be an autosomal recessive disorder. Autosomal recessive van Buchem disease has been referred to as autosomal recessive endosteal hyperostosis; an autosomal dominant form of endosteal hyperostosis can be caused by mutations in LRP5. The LRP5 gene maps to 11q13.4, whereas autosomal recessive van Buchem disease had been mapped to 17q11.2.