Van Buchem Disease (VBCH)

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Disease Ontology 12 DOID:0080036 OMIM 58 239100 KEGG 38 H01774 MeSH 45 D010009 ICD10 via Orphanet 35 M85.2

UMLS via Orphanet 75 C0432272 Orphanet 60 ORPHA3416 MedGen 43 C0432272 SNOMED-CT via HPO 70 103276001 109504005 15188001 193093009 22810007 25064002 258211005 343087000 49347007 60700002 73013002 95666008 95828007 more UMLS 74 C0175694 C0265301 C0432272

Genetics Home Reference : ²⁶ SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis). As a result of hyperostosis, bones throughout the body are denser and wider than normal, particularly the bones of the skull. Affected individuals typically have an enlarged jaw with misaligned teeth. People with this condition may also have a sunken appearance of the middle of the face (midface hypoplasia), bulging eyes with shallow eye sockets (ocular proptosis), and a prominent forehead. People with this condition often experience headaches because increased thickness of the skull bones increases pressure on the brain. The excessive bone formation seen in this condition seems to occur throughout a person's life, so the skeletal features become more pronounced over time. However, the excessive bone growth may only occur in certain areas.

MalaCards based summary : Van Buchem Disease, also known as hyperostosis corticalis generalisata, is related to sclerosteosis 1 and sclerosteosis 2, and has symptoms including seizures, constipation and vomiting. An important gene associated with Van Buchem Disease is SOST (Sclerostin), and among its related pathways/superpathways are Wnt signaling pathway and Signaling by Wnt. Affiliated tissues include bone, eye and brain, and related phenotypes are mandibular prognathia and abnormal cortical bone morphology

Disease Ontology : ¹² A hyperostosis that has material basis in a mutation in the SOST gene which results in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located in skull.

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3416Disease definitionHyperostosis 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.Visit the Orphanet disease page for more resources.

OMIM : ⁵⁸ 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). (239100)

UniProtKB/Swiss-Prot : ⁷⁶ Van Buchem disease: VBCH is an autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present 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. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated.

Wikipedia : ⁷⁷ Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus... more...

Clinical features from OMIM:

239100

Search Clinical Trials , NIH Clinical Center for Van Buchem Disease

Search GEO for disease gene expression data for Van Buchem Disease.