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multiple hereditary exostosis
Pathology:
1) multiple projections of bone capped by cartilage
a) most numerous in metaphyses of long bones
b) also diaphyses of long bones, flat bones, vertebrae, ribs
c) skull generally not involved
2) deformity of the legs, forearms & hands is frequent
Genetics:
1) autosomal dominant
2) type 1 caused by mutation in the exostosis 1 gene
3) type 2 caused by mutation in the exostosis 2 gene
Differential diagnosis:
1) metachondromatosis (156250)
2) Langer-Giedion syndrome (trichorhinophalangeal syndrome type 2) (150230)
3) fibrodysplasia ossificans progressiva (135100)
4) occipital horn syndrome (304150)
5) adult stage of hereditary hypophosphatemia (307800)
Related
exostosin-1; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; tumor suppressor protein EXT1; multiple exostoses protein 1 (EXT1)
exostosin-2; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; tumor suppressor protein EXT2; multiple exostoses protein 2 (EXT2)
General
exostosis; hyperostosis; osteoma; osteoncus
skeletal dysplasia
Database Correlations
OMIM 133700
References
OMIM :accession 133700