Weill-Marchesani Syndrome (WMS) is a rare genetic disorder that affects the body’s connective tissue, leading to short stature, lens dislocation in the eye, and unique facial features among other symptoms. The syndrome has two main types, with Type 2 being associated with mutations in the FBN1 gene. Understanding the symptoms of FBN1 Gene Weill-Marchesani Syndrome Dominant Type 2 is crucial for early diagnosis and management of the condition. At DNA Labs UAE, we offer a specialized genetic test for this condition, priced at 4400 AED, which can be a critical step towards managing and understanding the condition better. For more information, please visit our website at DNA Labs UAE.
Symptoms of FBN1 Gene Weill-Marchesani Syndrome Dominant Type 2
The symptoms of Weill-Marchesani Syndrome Dominant Type 2, caused by mutations in the FBN1 gene, can vary among individuals but typically include a combination of the following:
- Short Stature: One of the hallmark symptoms of WMS is a noticeably shorter height compared to peers, often apparent from an early age.
- Ocular Symptoms: Lens dislocation (ectopia lentis) is common, along with other potential eye problems such as glaucoma, myopia (nearsightedness), and small cornea size.
- Unique Facial Features: Individuals may have a round face with full cheeks, a wide nose, and a small upper jaw.
- Skeletal Anomalies: This may include short fingers and toes (brachydactyly), limited joint movement, and in some cases, scoliosis.
- Heart Issues: There is a risk of developing cardiovascular problems due to the effect of the FBN1 mutation on connective tissue, including aortic dissection and valve malformations.
It’s important to note that the severity and combination of symptoms can vary widely among individuals. Early and accurate diagnosis through genetic testing can help manage the symptoms effectively and improve the quality of life for those affected.
Genetic Test for FBN1 Gene Weill-Marchesani Syndrome Dominant Type 2
At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to identify mutations in the FBN1 gene associated with Weill-Marchesani Syndrome Dominant Type 2. The test is priced at 4400 AED and involves a simple and non-invasive process. Our state-of-the-art laboratory and experienced genetic counselors ensure accurate results and support throughout the testing process.
Identifying the presence of a mutation in the FBN1 gene can be a crucial step in managing the condition. It allows for personalized treatment plans, informed decisions about lifestyle and health monitoring, and provides valuable information for family planning. Genetic counseling is also available to help understand the implications of the test results and discuss any concerns.
For more information on the FBN1 Gene Weill-Marchesani Syndrome Dominant Type 2 Genetic Test and to schedule your appointment, please visit our website at DNA Labs UAE. Our team is committed to providing high-quality genetic testing services and support to individuals and families affected by genetic conditions.
