Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare genetic disorder caused by a mutation in one of the genes responsible for DNA repair. It is characterized by an increased risk of developing certain types of cancer, including colorectal, endometrial, and ovarian cancer. People with CMMRD may also have an increased risk of developing other types of cancer, including brain, breast, and skin cancer. CMMRD is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.

The symptoms of Constitutional mismatch repair deficiency syndrome (CMMRD) vary from person to person, but may include:

-Growth delays

-Developmental delays

-Intellectual disability

-Seizures

-Cognitive impairment

-Behavioral problems

-Speech delays

-Gastrointestinal problems

-Immune system problems

-Skeletal abnormalities

-Facial abnormalities

-Cancer (especially colorectal cancer)

-Increased risk of other cancers

Constitutional mismatch repair deficiency syndrome (CMMRD) is caused by mutations in one of the genes responsible for DNA mismatch repair. These genes are MLH1, MSH2, MSH6, PMS2, and EPCAM. Mutations in any of these genes can lead to CMMRD.

The primary treatment for Constitutional mismatch repair deficiency syndrome is to reduce the risk of developing cancer. This can be done through regular cancer screenings, such as colonoscopies, endoscopies, and imaging tests. Other treatments may include surgery to remove tumors, chemotherapy, and radiation therapy. In some cases, medications may be prescribed to reduce the risk of developing certain types of cancer. Genetic counseling may also be recommended to help families understand the risks and benefits of genetic testing.

1. Family history of Lynch Syndrome or other hereditary cancer syndromes
2. Personal history of colorectal, endometrial, or other Lynch Syndrome-associated cancers
3. Personal history of multiple primary cancers
4. Personal history of childhood cancers
5. Personal history of rare cancers
6. Personal history of tumors with MSI-H or dMMR
7. Personal history of tumors with loss of MLH1 or MSH2 expression
8. Personal history of tumors with BRAF V600E mutation
9. Personal history of tumors with microsatellite instability
10. Personal history of tumors with hypermethylation of MLH1 promoter

At this time, there is no cure for Constitutional mismatch repair deficiency syndrome (CMMRD). However, there are medications that can help manage the symptoms of the condition. These medications include anticonvulsants, anti-inflammatory drugs, and immunosuppressants. Additionally, some patients may benefit from physical therapy, occupational therapy, and speech therapy.