Orthopedics · Orthopedics / Bone tumors
Multiple hereditary exostoses syndrome
also: Hereditary multiple osteochondromas
Multiple osteochondromas.
- Specialty
- Orthopedics
- Subspecialty
- Orthopedics / Bone tumors
- Sex & age distribution
- Male: affected, male predominance; Female: affected, reduced penetrance; Children: yes, noticed in childhood
- Gene(s) involved
- EXT1, EXT2
- Alternative names & eponyms
- Hereditary multiple osteochondromas
Etiology & mechanism
Loss of EXT1 or EXT2 heparan sulfate synthesis.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Multiple hereditary exostoses 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
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Bloom syndrome
short stature
1 shared
Blue rubber bleb nevus syndrome
pain
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
1 shared
Cardio-facio-cutaneous syndrome
short stature
1 shared
Coffin–Lowry syndrome
short stature
1 shared
Complex regional pain syndrome type I
pain
1 shared
Costello syndrome
short stature
Shares genes with
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