Dysmorphology Diseases

Alagille Syndrome is a genetic disorder that can affect multiple organ systems of the body, including the liver, heart, skeleton, eyes, and kidneys. It is primarily known for causing liver damage due to abnormalities in the bile ducts. The condition is highly variable in its severity and manifestations, making it crucial for individuals to undergo […]

— Alazami Syndrome is a rare genetic disorder characterized by a range of physical and developmental challenges. This condition is linked to mutations in the LARP7 gene, a critical component in the body’s cellular machinery. Recognizing the symptoms early on can lead to timely intervention and management strategies that can significantly improve the quality of […]

Alpha-Thalassemia/Mental Retardation Syndrome (ATR-X) is a rare genetic condition that affects many parts of the body. This condition, which occurs almost exclusively in males, is characterized by alpha-thalassemia, developmental delays, intellectual disability, and distinctive facial features. Understanding the symptoms of ATR-X syndrome is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive […]

In the realm of genetic diagnostics, understanding the complexities of various syndromes is crucial for early intervention and management. One such complex condition involves the TP63 gene, which has been linked to Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome. This rare genetic disorder presents a variety of symptoms that can significantly impact an individual’s quality of life. […]

Symptoms of PITX3 Gene Anterior Segment Mesenchymal Dysgenesis Anterior Segment Mesenchymal Dysgenesis (ASMD) is a rare genetic disorder that affects the development of the eyes, leading to various ocular abnormalities. This condition is primarily associated with mutations in the PITX3 gene. Understanding the symptoms of ASMD is crucial for early diagnosis and management of the […]

Antley-Bixler Syndrome, a rare genetic disorder, is characterized by numerous skeletal abnormalities that are often present at birth. This condition is primarily associated with mutations in the FGFR2 gene, which plays a crucial role in early bone development and growth. Recognizing the symptoms early can be vital for managing the condition effectively. DNA Labs UAE […]

Symptoms of FGFR2 Gene Apert Syndrome Genetic Test Apert Syndrome is a genetic disorder that results from the mutation of the FGFR2 (Fibroblast Growth Factor Receptor 2) gene. This rare condition is characterized by the premature fusion of certain skull bones (craniosynostosis), which affects the shape of the head and face. Additionally, individuals with Apert […]

Achondrogenesis Type 2, caused by mutations in the COL2A1 gene, is a rare genetic disorder that significantly impacts skeletal development. This condition is part of a group of disorders known as chondrodysplasias, which affect the cartilage and bone. The COL2A1 gene is crucial for the production of a specific type of collagen (type II collagen) […]

HOXA1 Gene Athabaskan Brainstem Dysgenesis Syndrome is a rare genetic condition that has captured the attention of medical researchers and healthcare professionals worldwide. This condition, which stems from mutations in the HOXA1 gene, affects the development of the brainstem and cranial nerves, leading to a range of developmental and neurological challenges. DNA Labs UAE is […]

Acrodysostosis Type 1 is a rare genetic disorder that affects bone growth and hormonal regulation. This condition is primarily caused by mutations in the PRKAR1A gene. Individuals affected by this condition often exhibit a wide range of symptoms that can significantly impact their quality of life. Understanding these symptoms is crucial for early diagnosis and […]