Van Buchem's syndrome is a skeletal disorder. Almost all of the effects are bone-structure defects.
The most common symptoms of Van Buchem's syndrome are:
Thickening of skull bone
Thickening of collar bone
Thickening of jaw bone
Thickening of rib bones
Thickening of main shaft of long bones
Facial nerve paralysis (due to nerve entrapment)
Inability to sense (feeling) due to nerve entrapment
Wide chin
Increased bone strength
Increased bone radius
Increased bone mineral density[2]
This image shows a patient who was diagnosed with Van Buchem's sydrome. A thicker jaw bone and an abnormally wide chin are distinctly noticeable in the photo.
(http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=795)
The above image shows a Van Buchem patient's skull on the right in comparison with three unafflicted, normal human skulls. The weight of the skull on the right is almost equal to the weight of four normal skulls [3].
To see why the bones become so unusually heavy please see the Bone Growth page.
Below are X-ray images of normal patients and also X-rays of patients with Van Buchem's Syndrome
(Left) This photo shows the unusually dense ulna and femur of a patient with Van Buchem's.
(Right) This is a X-ray of a normal patient.
[4] (Left)Patient with normal X-ray
(Right) X-ray of a patient with VB
An unusually dense femur and pelvis can be seen
(http://www.flickr.com/photos/akeg/241873015/)
Van Buchem's Syndrome (home page)
Page Authors: Emmie Ryan and Julie Swihart
Footnotes