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(Q77.0) Achondrogenesis
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37 652 in individuals diagnosis achondrogenesis confirmed
2 760 deaths with diagnosis achondrogenesis
7% mortality rate associated with the disease achondrogenesis
Diagnosis achondrogenesis is diagnosed Women are 21.26% more likely than Men
14 824
Men receive the diagnosis achondrogenesis
1 527 (10.3 %)Died from this diagnosis.
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22 828
Women receive the diagnosis achondrogenesis
1 233 (5.4 %)Died from this diagnosis.
Risk Group for the Disease achondrogenesis - Men aged 5-9 and Women aged 10-14
In Men diagnosis is most often set at age 0-19, 25-34
Less common in men the disease occurs at Age 20-24, 35-95+Less common in women the disease occurs at Age 40-44, 55-59, 70-79, 85-95+
In Women diagnosis is most often set at age 0-39, 45-54, 60-69, 80-84
Disease Features achondrogenesis
Absence or low individual and public risk
Achondrogenesis - what does this mean
Achondrogenesis is a rare genetic disorder that is caused by a mutation in the slc26a2 gene and is characterized by the abnormal development of cartilage and bone. it is a lethal disorder and infants born with it usually die shortly after birth due to respiratory complications.
What happens during the disease - achondrogenesis
Achondrogenesis is a rare genetic disorder caused by mutations in the slc26a2 gene. this gene is responsible for the production of collagen, which is essential for the normal development of bones. mutations in this gene lead to a decrease in collagen production, resulting in abnormal bone growth and development, as well as severe skeletal deformities. in addition, the decreased collagen production can lead to respiratory and cardiac complications, as well as other organ system abnormalities.
Clinical Pattern
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How does a doctor diagnose
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Treatment and Medical Assistance
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28 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Achondrogenesis - Prevention
Achondrogenesis is a rare genetic disorder that can be prevented by genetic counseling and pre-implantation genetic diagnosis. genetic counseling can help couples understand the risks of passing on the disorder to their children and pre-implantation genetic diagnosis can help identify embryos that are free from the disorder, allowing couples to choose embryos that are unaffected.