Preferred Label : Van buchem disease;
Symbol : VBCH;
CISMeF acronym : VBCH;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Hyperostosis corticalis generalisata; Hyperphosphatasemia tarda; Endosteal hyperostosis, autosomal recessive;
Description : Van Buchem disease is an autosomal recessive bone dysplasia characterized by a symmetrically
increased thickness of bones, most frequently found as an enlarged jawbone, but also
an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones
of hands and feet, resulting in increased cortical bone density. The clinical consequences
of increased thickness of the skull include facial nerve palsy causing hearing loss,
visual problems, neurologic pain, and very rarely, blindness resulting from optic
atrophy. Bone anomalies appear in the first decade of life and progress with age (summary
by Wergedal et al., 2003).;
Inheritance : Autosomal recessive;
Prefixed ID : #239100;
Origin ID : 239100;
UMLS CUI : C0432272;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
