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(Q77.4) Achondroplasia
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37 652 in individuals diagnosis achondroplasia confirmed
2 760 deaths with diagnosis achondroplasia
7% mortality rate associated with the disease achondroplasia
Diagnosis achondroplasia is diagnosed Women are 21.26% more likely than Men
14 824
Men receive the diagnosis achondroplasia
1 527 (10.3 %)Died from this diagnosis.
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22 828
Women receive the diagnosis achondroplasia
1 233 (5.4 %)Died from this diagnosis.
Risk Group for the Disease achondroplasia - 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 achondroplasia
Absence or low individual and public risk
Achondroplasia - what does this mean
Achondroplasia is a genetic disorder caused by a mutation in the fgfr3 gene, resulting in abnormal bone growth and short stature. it is the most common form of dwarfism, and affects the bones of the arms and legs, resulting in short arms and legs, a short torso, a large head, and a prominent forehead.
What happens during the disease - achondroplasia
Achondroplasia is a genetic disorder caused by a mutation in the fibroblast growth factor receptor 3 (fgfr3) gene. this mutation leads to a decrease in the production of cartilage, resulting in abnormal bone growth and short stature. the abnormal growth pattern of the bones is characterized by a short stature, a large head, short arms and legs, and a prominent forehead. other symptoms may include a flattened nose, a curved spine, and bowed legs.
Clinical Pattern
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How does a doctor diagnose
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Treatment and Medical Assistance
More details coming soon
28 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Achondroplasia - Prevention
Achondroplasia is a genetic disorder that can be prevented by genetic testing before conception. couples who are at risk of having a child with achondroplasia should consider pre-implantation genetic diagnosis or prenatal diagnosis to reduce the risk of having a baby with the disorder.