Dysmorphology Diseases

“` Understanding Platyspondylic Skeletal Dysplasia Torrance Type Platyspondylic Skeletal Dysplasia Torrance Type, a rare genetic disorder, is characterized by significant abnormalities in bone development and structure. This condition falls under the spectrum of skeletal dysplasias, which are disorders associated with the growth and development of bones and cartilage. The COL2A1 gene, pivotal in the body’s […]

In the realm of genetic diagnostics, the rapid advancements in genetic testing technologies have brought about a new era of understanding and managing rare genetic disorders. Among these, the STRADA gene-related conditions, notably characterized by polyhydramnios, megalencephaly, and symptomatic epilepsy, present a complex challenge to medical professionals and affected families alike. DNA Labs UAE stands […]

Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In polymicrogyria, the brain develops too many folds, and these folds are unusually small. The TUBB2B gene plays a significant role in this condition, particularly in cases of asymmetric […]

Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In polymicrogyria, the brain develops too many folds, and these folds are unusually small. The ADGRG1 gene has been identified as one of the genetic contributors to polymicrogyria, specifically […]

Polymicrogyria (PMG) is a condition characterized by abnormal development of the brain before birth. The cerebral cortex, which is the brain’s outer layer responsible for many of its complex functions, develops too many small folds and fails to develop its normal grooves. One specific type of this condition, which involves the NR2E1 gene, leads to […]

At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services to help individuals and families understand their genetic makeup and potential health risks. One specific area of our expertise is the diagnosis of rare genetic disorders, including conditions such as polymicrogyria with optic nerve hypoplasia, linked to mutations in the TUBA8 gene. […]

— Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis is a complex genetic condition that affects the development of the human brain and musculoskeletal system. This condition, caused by mutations in the PI4KA gene, leads to a range of developmental and neurological challenges. DNA Labs UAE offers a comprehensive genetic test to diagnose this condition, ensuring […]

Popliteal Pterygium Syndrome (PPS) Type 1 is a rare genetic disorder that significantly impacts those affected and their families. At the core of this condition lies a mutation in the IRF6 gene, a crucial factor in the development of various body parts during embryonic growth. Understanding the symptoms of this condition is vital for early […]

Popliteal Pterygium Syndrome (PPS) Lethal Type is a rare genetic disorder that can cause severe developmental anomalies in affected individuals. This condition is characterized by a range of physical manifestations, including skin webbing behind the knees, cleft lip or palate, genital abnormalities, and more. The lethal type of PPS is particularly severe and is caused […]

Symptoms of COL4A1 Gene Porencephaly Familial Genetic Test Porencephaly, a rare neurological disorder, is often associated with mutations in the COL4A1 gene. This condition can lead to a variety of symptoms and challenges for those affected. Understanding these symptoms is crucial for early diagnosis and management. The COL4A1 gene plays a significant role in the […]