Split-hand/foot malformation type 1 (SHFM1), also known as ectrodactyly, is a rare genetic disorder characterized by the malformation of the hands and feet. This condition can vary greatly in severity and can involve the absence of certain fingers or toes, syndactyly (fusion of digits), or the formation of a deep median cleft. When SHFM1 is accompanied by sensorineural hearing loss, it is often linked to mutations in the DLX5 gene. Understanding the symptoms and genetic underpinnings of this condition is crucial for early diagnosis and management.
Symptoms of DLX5 Gene Split-Hand/Foot Malformation Type 1 with Sensorineural Hearing Loss
The primary symptoms of SHFM1 include the malformation of the hands and feet. This can manifest as missing digits, a cleft hand or foot, syndactyly, or a combination of these features. The severity and specifics of the malformations can vary significantly from one individual to another, even among members of the same family.
In cases where SHFM1 is accompanied by sensorineural hearing loss, individuals may experience mild to profound hearing impairment. This type of hearing loss results from damage to the inner ear (cochlea) or to the nerve pathways from the inner ear to the brain. Sensorineural hearing loss associated with SHFM1 can be present at birth or develop over time.
Other symptoms that might be associated with SHFM1, though less commonly, include intellectual disability, skin abnormalities, and orofacial clefting. However, it is important to note that the presence and severity of these symptoms can vary widely.
Genetic Test for DLX5 Gene Split-Hand/Foot Malformation Type 1 with Sensorineural Hearing Loss
Genetic testing for SHFM1, particularly when sensorineural hearing loss is also present, involves analyzing the DLX5 gene for mutations. This test is crucial for confirming the diagnosis, understanding the risk of passing the condition to offspring, and guiding management and treatment decisions.
The genetic test for the DLX5 gene split-hand/foot malformation type 1 with sensorineural hearing loss is available at DNA Labs UAE. This specialized test is designed to detect mutations in the DLX5 gene that are known to cause this complex condition. By identifying the specific mutation, healthcare providers can offer more personalized care and management strategies to affected individuals and their families.
Cost of the Genetic Test
The cost of the genetic test for DLX5 gene split-hand/foot malformation type 1 with sensorineural hearing loss at DNA Labs UAE is 4400 AED. This cost reflects the comprehensive nature of the test, which includes genetic counseling, the test procedure itself, and the provision of a detailed report explaining the results.
Conclusion
SHFM1 with sensorineural hearing loss is a rare genetic condition that poses significant challenges to affected individuals and their families. Early diagnosis through genetic testing is essential for managing the condition effectively. DNA Labs UAE offers a specialized genetic test for identifying mutations in the DLX5 gene, providing vital information for the diagnosis and management of this complex condition. For more information about the test and to schedule an appointment, please visit DNA Labs UAE.
