Abstract

Metachondromatosis is an autosomal dominantincompletely penetrant skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas. This tumor syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.

Genetics

Metachondromatosis is inherited in an autosomal dominant manner. This means that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

It has been associated with "PTPN11".