hyperostosis corticalis generalisata
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
MONDO:0019703
obsolete primary bone dysplasia with increased bone density (obsolete MONDO:0019703)
excluded_subClassOf
MONDO:0002185
hyperostosis
is_a
MONDO:0018230
skeletal dysplasia
is_a
VBCH
related
Van Buchem disease
exact
endosteal hyperostosis
exact
endosteal hyperostosis autosomal recessive
related
hyperostosis corticalis generalisata
exact
hyperphosphatasemia tarda
exact
van Buchem disease
exact
van Buchem disease type 1
exact