Multiple exostoses, type 1
| Disorder | |
|---|---|
| OMIM #: | #133700 (Click to access OMIM database) |
| Disorder: | Multiple exostoses, type 1 |
| Also known as: | EXT MULTIPLE CARTILAGINOUS EXOSTOSES DIAPHYSEAL ACLASIS MULTIPLE OSTEOCHONDROMAS OSTEOCHONDROMATOSIS |
| Clinical | |
| Phenotype: | multiple exotoses, 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 |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | EXT1 |
| Base Change: | G>A, at nucleotide 1818 |
| Amino Acid Change: | |
| Last updated: | 2022-11-07 |
| References |
|---|
| Personal communication; seen at CSC. |
Back