Metachondromatosis

Metachondromatosis
Classification and external resources
OMIM 156250
DiseasesDB 32116

Metachondromatosis is an autosomal dominant[1] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas. Affects mainly tubular bones, though can involve the vertebrae.

Genetics

Metachondromatosis has an autosomal dominant pattern of inheritance.

Metachondromatosis is inherited in an autosomal dominant manner.[1] 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.[2]

References


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