Dyssegmental Dysplasia, Silverman-Handmaker type, is a rare genetic disorder that significantly impacts the development of bone and cartilage. This condition is caused by mutations in the HSPG2 gene, which plays a crucial role in the structural integrity and function of the extracellular matrix. Understanding the symptoms associated with this disorder is essential for early diagnosis and management. Furthermore, genetic testing for the HSPG2 gene mutation can provide definitive confirmation of the condition. DNA Labs UAE offers a comprehensive genetic test for this disorder, priced at 4400 AED.
Symptoms of HSPG2 Gene Dyssegmental Dysplasia, Silverman-Handmaker Type
The symptoms of Dyssegmental Dysplasia, Silverman-Handmaker Type, are usually evident at birth and may include a wide range of skeletal abnormalities. The most common symptoms include:
- Short stature and dwarfism, often noticeable at birth.
- Distinct facial features such as a flat face, prominent eyes, and a small nose with a flat nasal bridge.
- Severe shortening and bowing of the long bones, particularly in the arms and legs.
- Abnormal development of the rib cage, leading to respiratory difficulties.
- Underdeveloped pelvis and spine abnormalities, including scoliosis and kyphosis.
These symptoms result from the disruption in the normal development of bone and cartilage caused by mutations in the HSPG2 gene. Early diagnosis is critical to manage the condition and improve the quality of life for affected individuals.
Genetic Testing for HSPG2 Gene Mutation
DNA Labs UAE provides a genetic test specifically designed to detect mutations in the HSPG2 gene associated with Dyssegmental Dysplasia, Silverman-Handmaker Type. This test is a crucial step in confirming the diagnosis, allowing for targeted management and care strategies. The test is priced at 4400 AED.
Benefits of Genetic Testing
Genetic testing for the HSPG2 gene mutation offers several benefits:
- Definitive Diagnosis: It provides a definitive diagnosis, confirming whether the HSPG2 gene mutation is present.
- Family Planning: It offers valuable information for family planning and the assessment of recurrence risk in future pregnancies.
- Management and Treatment: It aids in the development of a tailored management plan to address the specific needs of the individual.
Conclusion
Dyssegmental Dysplasia, Silverman-Handmaker Type, is a severe genetic disorder that requires early diagnosis and intervention. The symptoms associated with this condition, resulting from mutations in the HSPG2 gene, can significantly impact the quality of life. Genetic testing, available at DNA Labs UAE for 4400 AED, provides a critical tool in confirming the diagnosis and facilitating appropriate management. For more information on this genetic test, visit DNA Labs UAE.
