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Which are the causes of Maffucci Syndrome?

See some of the causes of Maffucci Syndrome according to people who have experience in Maffucci Syndrome

Maffucci Syndrome causes

Maffucci syndrome is a rare genetic disorder characterized by the development of multiple enchondromas, which are noncancerous tumors that form in the cartilage. These tumors primarily affect the bones of the hands and feet, but can also occur in other parts of the body such as the long bones, ribs, and skull. Maffucci syndrome is considered a subtype of enchondromatosis, a group of related conditions characterized by the presence of multiple enchondromas.



The exact cause of Maffucci syndrome is not yet fully understood. However, it is believed to be caused by somatic mutations in the IDH1 or IDH2 genes. These genes provide instructions for producing enzymes that are involved in cellular metabolism. Mutations in these genes result in the production of abnormal enzymes that disrupt the normal processes of cell growth and division, leading to the formation of enchondromas.



Maffucci syndrome is not inherited in a typical autosomal dominant or recessive pattern. Instead, it is thought to occur sporadically, meaning that the mutations in the IDH1 or IDH2 genes arise randomly during early embryonic development. These mutations are not present in the germ cells (sperm or egg cells) of the affected individuals and therefore cannot be passed on to their children.



Although the exact triggers for the development of enchondromas in Maffucci syndrome are unknown, certain factors may increase the risk. For example, individuals with Maffucci syndrome may have a higher risk of developing enchondromas following trauma or injury to the affected bones. Additionally, hormonal factors may play a role, as enchondromas tend to grow more rapidly during periods of hormonal changes such as puberty.



It is important to note that Maffucci syndrome is a rare disorder, and the majority of cases occur sporadically without a family history. However, in some rare instances, familial cases have been reported, suggesting a potential genetic predisposition in a small number of individuals.



In conclusion, Maffucci syndrome is a rare genetic disorder caused by somatic mutations in the IDH1 or IDH2 genes. These mutations lead to the development of multiple enchondromas, primarily in the bones of the hands and feet. The exact triggers for the development of enchondromas and the reasons for sporadic occurrence are still not fully understood. Further research is needed to gain a deeper understanding of the underlying causes of Maffucci syndrome.


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Stories of Maffucci Syndrome

MAFFUCCI SYNDROME STORIES
Maffucci Syndrome stories
Obviously somewhere along the line, my mum thought there was something not quite right with my left and as it had big lumps growing from the base of my left ring finer and little finger. I was originally diagnosed with Olliers disease in 1967 in Vic...
Maffucci Syndrome stories
Hi , i'm a 39 yrs old Mafucci , living in Ghent , Belgium I was diagnosed when i was 3 yrs old I underwent 28 surgeries , mainly to lenghten my bones ( when i was minor) and amputate echondromas in the hands ( in my 20s). Now i encounter big troub...

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