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(Q77.3) Chondrodysplasia punctata
More details coming soon
37 652 in individuals diagnosis chondrodysplasia punctata confirmed
2 760 deaths with diagnosis chondrodysplasia punctata
7% mortality rate associated with the disease chondrodysplasia punctata
Diagnosis chondrodysplasia punctata is diagnosed Women are 21.26% more likely than Men
14 824
Men receive the diagnosis chondrodysplasia punctata
1 527 (10.3 %)Died from this diagnosis.
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22 828
Women receive the diagnosis chondrodysplasia punctata
1 233 (5.4 %)Died from this diagnosis.
Risk Group for the Disease chondrodysplasia punctata - 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 chondrodysplasia punctata
Absence or low individual and public risk
Chondrodysplasia punctata - what does this mean
Chondrodysplasia punctata is a rare genetic disorder that affects the development of cartilage and bones. it is caused by mutations in certain genes that are responsible for the production of proteins that are essential for the formation and maintenance of cartilage and bone. this leads to the formation of abnormal cartilage and bones, which can cause physical deformities, growth delays, and other health problems.
What happens during the disease - chondrodysplasia punctata
Chondrodysplasia punctata is a rare genetic disorder that affects the development of the bones and cartilage. it is caused by a mutation in the gene responsible for the production of peroxisomes, which are essential organelles for normal development. this mutation leads to an accumulation of certain substances in the cells, resulting in abnormal bone and cartilage formation. additionally, this can lead to a variety of other symptoms, such as vision and hearing impairment, seizures, and intellectual disabilities.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- X-ray of the affected area
- CT scan
- MRI scan
- Genetic testing
- Electron microscopy
- Biochemical tests
- Liver function tests
- Kidney function tests
Treatment and Medical Assistance
Main goal of the treatment:
To reduce the severity of symptoms and improve the quality of life of those affected by Chondrodysplasia punctata.
- Administering regular doses of vitamin A to reduce the severity of symptoms
- Prescribing physical therapy to improve mobility
- Prescribing medications to reduce pain and inflammation
- Recommending a low-fat diet to reduce the risk of complications
- Recommending regular exercise to improve strength and balance
- Recommending genetic counseling for those affected and their families
- Recommending occupational therapy to help with everyday tasks
- Recommending speech therapy to help with communication
28 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Chondrodysplasia punctata - Prevention
Chondrodysplasia punctata is a genetic disorder that can be prevented by pre-conception genetic counseling and testing. couples who are planning to have a child should be aware of their family history and seek genetic counseling if they are at risk for passing on this disorder. additionally, pregnant women should be tested for the disorder to detect any potential problems early.