Van Buchem’s Syndrome

 

 

 

Van Buchem's Syndrome, also known as Endosteal Hyperostosis, is an autosomal recessive disorder^[1]. This disorder is a result of a missense mutation in the LRP5 (low-density lipoprotein receptor-related protein 5) gene^[2]. The syndrome causes an increase in bone mineral density (BMD) specifically in the skull base and cortical thickening of the tubular (long) bones^[3][4]. This syndrome is very rare and is not specific to any ethnic group or geographical areas, athough it is most commonly found in in-bred families.

 

Causes 

Missense Mutations

LRP5

Bone Growth

 

Diagnosis 

 

 Effects and Symptoms

 

Treatment

There is currently no treatment for this syndrome since it affects so few people and those patients do not have severe disabilities or life-threatening problems from the disease.

 

 

    *Author's Note: We picked this rare syndrome because in general non-lethal mutations, like Van Buchem's Syndrome, help biologists understand the underlying mechanisms of complex processes, like bone remodeling. This syndrome is interesting because it allow biologists to see that the Wnt pathway controls bone growth. Scientists can use this information to help find treatments for serious diseases like osteoporosis, which affects millions of people.  Scientists can discover molecules that 're-create' the effect of this syndrome. This would help in osteoporosis by re-estabishing the balance between osteoblasts and osteoclasts.^[5][6]

 

 

Page Authors: Emmie Ryan and Julie Swihart