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(Q78.3) Progressive diaphyseal dysplasia
More details coming soon
153 430 in individuals diagnosis progressive diaphyseal dysplasia confirmed
2 369 deaths with diagnosis progressive diaphyseal dysplasia
2% mortality rate associated with the disease progressive diaphyseal dysplasia
Diagnosis progressive diaphyseal dysplasia is diagnosed Men are 15.04% more likely than Women
88 252
Men receive the diagnosis progressive diaphyseal dysplasia
1 500 (1.7 %)Died from this diagnosis.
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65 178
Women receive the diagnosis progressive diaphyseal dysplasia
869 (1.3 %)Died from this diagnosis.
Risk Group for the Disease progressive diaphyseal dysplasia - 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 progressive diaphyseal dysplasia
Absence or low individual and public risk
Progressive diaphyseal dysplasia - what does this mean
Progressive diaphyseal dysplasia is a rare genetic disorder that occurs due to a mutation in the slc26a2 gene. this mutation affects the production of type i collagen, which is a critical component of bones. as a result, the bones become thicker and shorter, leading to the characteristic features of this condition.
What happens during the disease - progressive diaphyseal dysplasia
Progressive diaphyseal dysplasia is a rare disorder caused by a mutation in the slc26a2 gene, which is responsible for the production of a protein called fibroblast growth factor receptor 3 (fgfr3). this mutation causes the fgfr3 protein to be overly active, leading to abnormal bone growth and an increased risk of fractures. the bones of the arms and legs are most commonly affected, resulting in an enlarged diaphysis (the shaft of the bone) and increased density of the cortex (the outer layer of the bone). over time, the bones may become misshapen and weak, leading to pain and disability.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical exam
- X-ray to detect bowing of long bones
- Blood tests to detect elevated levels of alkaline phosphatase
- Bone biopsy to analyze bone structure
- Genetic testing to identify mutations in the SLC26A2 gene
- CT scan to assess bone density
- MRI to identify soft tissue involvement
Treatment and Medical Assistance
Main Goal: To reduce pain and improve mobility for patients with Progressive diaphyseal dysplasia.
- Prescribe medications to reduce pain and inflammation
- Physical therapy to improve range of motion and strength
- Surgery to correct deformities and improve joint mobility
- Assistive devices such as braces, crutches, or wheelchairs to help with mobility
- Occupational therapy to help with activities of daily living
- Counseling to help with psychological issues related to the condition
10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Progressive diaphyseal dysplasia - Prevention
Progressive diaphyseal dysplasia can be prevented by avoiding exposure to radiation, as well as avoiding smoking and other unhealthy lifestyle habits. additionally, regular physical activity, healthy nutrition, and adequate rest are important for maintaining strong bones and avoiding the development of this condition.