Orthopedics · Orthopedics / Metabolic bone disease
Van Buchem syndrome
also: Hyperostosis corticalis generalisata
Sclerosteosis-like generalized hyperostosis with cranial nerve compression.
- Specialty
- Orthopedics
- Subspecialty
- Orthopedics / Metabolic bone disease
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- LRP4, SOST
- Alternative names & eponyms
- Hyperostosis corticalis generalisata
Etiology & mechanism
SOST enhancer deletion reducing sclerostin.
Gene(s) involved (2)
Symptoms & signs (4)
In plain terms, someone with Van Buchem syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Ramsay Hunt syndrome
facial palsy, hearing loss
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Bannwarth syndrome
facial palsy
1 shared
Branchio-oto-renal syndrome
hearing loss
1 shared
Chanarin–Dorfman syndrome
hearing loss
1 shared
CHARGE syndrome
hearing loss
1 shared
Cockayne syndrome
hearing loss
1 shared
Cogan syndrome
hearing loss
1 shared
Cogan syndrome with neurological involvement
hearing loss
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