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(Q77.7) Spondyloepiphyseal dysplasia
More details coming soon
37 652 in individuals diagnosis spondyloepiphyseal dysplasia confirmed
2 760 deaths with diagnosis spondyloepiphyseal dysplasia
7% mortality rate associated with the disease spondyloepiphyseal dysplasia
Diagnosis spondyloepiphyseal dysplasia is diagnosed Women are 21.26% more likely than Men
14 824
Men receive the diagnosis spondyloepiphyseal dysplasia
1 527 (10.3 %)Died from this diagnosis.
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22 828
Women receive the diagnosis spondyloepiphyseal dysplasia
1 233 (5.4 %)Died from this diagnosis.
Risk Group for the Disease spondyloepiphyseal dysplasia - 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 spondyloepiphyseal dysplasia
Absence or low individual and public risk
Spondyloepiphyseal dysplasia - what does this mean
Spondyloepiphyseal dysplasia is an inherited disorder characterized by short stature, abnormal spine development, and malformed bones in the hands and feet. it is caused by a mutation in the col2a1 gene which encodes for type ii collagen, a protein that helps form cartilage and other connective tissues. symptoms vary in severity but can include short stature, skeletal deformities, joint stiffness, and vision problems.
What happens during the disease - spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia is a genetic disorder caused by mutations in the trappc2 gene. this gene is responsible for the production of a protein that is important for the development of cartilage. mutations in the trappc2 gene lead to an abnormal development of the spine and other bones, resulting in short stature, skeletal malformations, and joint problems.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- X-ray of the spine
- CT scan of the spine
- MRI of the spine
- Genetic testing
- Blood tests
- Urine tests
Treatment and Medical Assistance
Main Goal: To reduce pain and improve mobility in patients with Spondyloepiphyseal dysplasia
- Physical therapy to improve strength and flexibility
- Occupational therapy to help with daily activities
- Bracing to support weakened joints
- Surgery to correct joint deformities
- Medication to reduce pain and inflammation
28 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Spondyloepiphyseal dysplasia - Prevention
The best way to prevent spondyloepiphyseal dysplasia is to maintain a healthy lifestyle, including regular exercise, a balanced diet, and avoiding smoking and alcohol. genetic counseling may also be beneficial for those with a family history of the condition.