van Buchem disease type 2

Pathology

• sclerosing bone dysplasia
• cranial osteosclerosis

Genetics

• autosomal dominant
• associated with defects in LRP5

Clinical manifestations

• enlarged mandible

Laboratory

• normal serum alkaline phosphatase levels

Radiology

• X-ray
  • thickened calvaria
  • thickened cortices of long bones

More general terms

• hyperostosis corticalis generalisata (van Buchem disease)

Database

• OMIM: https://mirror.omim.org/entry/607636