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(Q78.6) Multiple congenital exostoses
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153 430 in individuals diagnosis multiple congenital exostoses confirmed
2 369 deaths with diagnosis multiple congenital exostoses
2% mortality rate associated with the disease multiple congenital exostoses
Diagnosis multiple congenital exostoses is diagnosed Men are 15.04% more likely than Women
88 252
Men receive the diagnosis multiple congenital exostoses
1 500 (1.7 %)Died from this diagnosis.
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Women receive the diagnosis multiple congenital exostoses
869 (1.3 %)Died from this diagnosis.
Risk Group for the Disease multiple congenital exostoses - Men aged 10-14 and Women aged 5-9
In Men diagnosis is most often set at age 0-79
Less common in men the disease occurs at Age 80-95+Less common in women the disease occurs at Age 75-84, 90-95+
In Women diagnosis is most often set at age 0-74, 85-89
Disease Features multiple congenital exostoses
Absence or low individual and public risk
Multiple congenital exostoses - what does this mean
Multiple congenital exostoses is a genetic disorder characterized by the presence of multiple bony lumps or bumps on the ends of bones, most commonly the long bones of the arms and legs. it is caused by a mutation in one of two genes, ext1 or ext2, which are responsible for the production of heparan sulfate, a molecule involved in the regulation of bone growth.
What happens during the disease - multiple congenital exostoses
Multiple congenital exostoses is a rare genetic disorder caused by mutations in the ext1 and ext2 genes, which are responsible for the production of heparan sulfate, a molecule involved in the formation of cartilage. this mutation causes the formation of multiple benign lumps of cartilage, known as exostoses, on the bones of the arms, legs, and spine. these exostoses can cause pain, joint stiffness, and difficulty with movement.
Clinical Pattern
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How does a doctor diagnose
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Treatment and Medical Assistance
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10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Multiple congenital exostoses - Prevention
The best way to prevent multiple congenital exostoses is to practice good prenatal care and lifestyle habits. this includes regular check-ups and screenings during pregnancy, avoiding smoking and alcohol, and eating a balanced diet. additionally, genetic counseling and testing may be recommended to identify any potential risks for this condition.