Symptoms of WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test
Ritscher-Schinzel Syndrome Type 1, also known as Cranio-cerebello-cardiac (3C) syndrome, is a rare genetic disorder characterized by distinctive craniofacial features, cerebellar abnormalities, and congenital heart defects. The WASHC5 gene, previously known as KIAA0196, has been identified as a crucial gene associated with this syndrome. Understanding the symptoms associated with Ritscher-Schinzel Syndrome Type 1 is essential for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for this syndrome, providing a valuable tool for affected families.
Key Symptoms of Ritscher-Schinzel Syndrome Type 1
The symptoms of Ritscher-Schinzel Syndrome Type 1 can vary widely among affected individuals but typically include a combination of the following:
- Craniofacial Features: These may include a prominent forehead, a high, narrow palate, a small jaw, and low-set ears. Additionally, some individuals may have a cleft lip and palate.
- Cerebellar Abnormalities: Abnormalities in the cerebellum, which is the part of the brain that coordinates movement, can lead to poor muscle tone, coordination problems, and developmental delays in motor skills.
- Congenital Heart Defects: Heart defects are common in individuals with Ritscher-Schinzel Syndrome Type 1 and can include a variety of conditions such as ventricular septal defects, atrial septal defects, and more complex heart anomalies.
- Ophthalmologic Issues: Eye problems, including strabismus (crossed eyes), ptosis (drooping eyelids), and optic nerve hypoplasia, may occur.
- Respiratory Problems: Some individuals may experience recurrent respiratory infections due to various anatomical and physiological reasons.
- Genitourinary Anomalies: Abnormalities in the kidneys and urinary tract can also be present, affecting the normal function of these organs.
It is important to note that the presence and severity of these symptoms can vary significantly from one individual to another. Early diagnosis through genetic testing can help manage and address some of the challenges associated with this syndrome.
WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test to diagnose Ritscher-Schinzel Syndrome Type 1, focusing on mutations in the WASHC5 gene. This test is a crucial step in confirming the diagnosis, which can otherwise be challenging due to the variability and overlap of symptoms with other conditions. The cost of the test is 4400 AED, which includes a comprehensive analysis and a detailed report of the findings.
For more information about the WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test and to schedule a test, please visit our website.
Early diagnosis and intervention are vital for managing Ritscher-Schinzel Syndrome Type 1 effectively. With the support of DNA Labs UAE and the genetic testing services offered, families can gain a better understanding of their condition and access the necessary resources and interventions to improve the quality of life for affected individuals.
