Amish, Mennonite, and Hutterite
Genetic Disorder Database

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 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 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: EXT1
Base Change: G>A, at nucleotide 1818
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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