< Previous | Next >

Multiple Hereditory Exostosis OMIM

Visit Resource Review It Rate It Bookmark It

Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133700

Description: EXOSTOSES, MULTIPLE, TYPE I Alternative titles MULTIPLE CARTILAGINOUS EXOSTOSES DIAPHYSEAL ACLASIS MULTIPLE OSTEOCHONDROMATOSIS Gene map locus 8q24.11-q24.13 multiple exostoses type I is caused by mutation in the gene encoding exostosin-1 (EXT1; 608177), which maps to chromosome 8q24. Multiple exostoses type II (133701) is caused by mutation in the gene encoding exostosin-2 (EXT2; 608210), on chromosome 11, and multiple exostoses type III has been mapped to a locus on chromosome 19 (EXT3; 600209). There is some evidence for an additional multiple exostoses locus. DESCRIPTION Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989). Two conditions in which multiple exostoses occur are metachondromatosis (156250) and the Langer-Giedion syndrome (LGS; 150230); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP; 135100), occipital horn syndrome (304150), and the adult stage of hereditary hypophosphatemia (see 307800); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

Type: Reference Material
Author/Contact: Not available
Institution: Online Mendelian Inheritance in Man
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 971
Added: Sun Dec 10 2006