Crouzon Syndrome is a genetic disorder characterized by the premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. It is primarily caused by mutations in the FGFR2 gene. Understanding the symptoms of Crouzon Syndrome is crucial for early diagnosis and […]
Dysmorphology Diseases
Symptoms and Testing information for ERCC8 Gene Cockayne Syndrome Type A Genetic Test
Cockayne Syndrome Type A, also known as CSA, is a rare genetic disorder that affects many parts of the body. The syndrome is primarily characterized by poor growth, premature aging, and sensitivity to sunlight. It is caused by mutations in the ERCC8 gene, also known as the CSA gene, which plays a crucial role in […]
Symptoms and Testing information for IFT43 Gene Cranioectodermal Dysplasia Type 3 Genetic Test
Cranioectodermal Dysplasia (CED), also known as Sensenbrenner syndrome, is a rare genetic disorder that affects multiple parts of the body including the skeleton, skin, and kidneys. Type 3 of this condition, specifically associated with mutations in the IFT43 gene, is a focus of interest for both medical professionals and families affected by the disorder. DNA […]
Symptoms and Testing information for ERCC6 Gene Cockayne Syndrome Type B Genetic Test
Symptoms of ERCC6 Gene Cockayne Syndrome Type B Genetic Test Cockayne Syndrome (CS) is a rare and complex genetic disorder characterized by growth failure, premature aging, and sensitivity to sunlight. Type B, associated with mutations in the ERCC6 gene, is one of the forms of this syndrome. Recognizing the symptoms early can significantly impact the […]
Symptoms and Testing information for WDR19 Gene Cranioectodermal Dysplasia Type 4 Genetic Test
Cranioectodermal dysplasia, also known as Sensenbrenner syndrome, is a rare genetic disorder that affects multiple parts of the body, including bones, teeth, hair, nails, and kidneys. Type 4 of this condition, specifically associated with mutations in the WDR19 gene, presents unique challenges and symptoms for those affected. Understanding these symptoms is crucial for early diagnosis […]
Symptoms and Testing information for LONP1 Gene CODAS Syndrome Genetic Test
At DNA Labs UAE, we are committed to providing advanced genetic testing services to help individuals and families understand their genetic makeup and potential health risks. One of the specialized tests we offer is the LONP1 Gene CODAS Syndrome Genetic Test. CODAS Syndrome is a rare genetic disorder that can affect multiple parts of the […]
Symptoms and Testing information for SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 Related Genetic Test
Coffin-Siris Syndrome (CSS) is a rare genetic disorder that affects multiple organs and systems of the body. It is characterized by developmental delays, intellectual disability, distinctive facial features, and abnormalities of the fifth digits. The syndrome can be caused by mutations in several genes, one of which is the SMARCE1 gene. Understanding the symptoms associated […]
Symptoms and Testing information for CRLF1 Gene Cold-Induced Sweating Syndrome Genetic Test
— Cold-Induced Sweating Syndrome (CISS) is a rare genetic disorder primarily characterized by the onset of sweating in cold environments and during infancy. This condition is caused by mutations in the CRLF1 gene. Understanding the symptoms and genetic underpinnings of this disorder is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive […]
Symptoms and Testing information for CLCF1 Gene Cold-Induced Sweating Syndrome Type 2 Genetic Test
The CLCF1 gene plays a crucial role in the human body, influencing various biological processes. A mutation in this gene can lead to Cold-Induced Sweating Syndrome Type 2 (CISS2), a rare genetic disorder. This condition is characterized by a series of symptoms that significantly impact the quality of life of those affected. Understanding these symptoms […]
Symptoms and Testing information for PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia Genetic Test
Understanding PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia The PRKD1 gene plays a pivotal role in the normal development of various tissues in the body, including the heart and ectodermal tissues such as skin, hair, nails, and teeth. Mutations in the PRKD1 gene can lead to congenital heart defects and ectodermal dysplasia, conditions that […]