Diseases

Breast cancer is a malignant proliferation of epithelial cells lining the ducts or lobules of the breast. It represents a heterogeneous group of tumors with…

Sickle Cell Disease (SCD) is a group of inherited red blood cell disorders characterized by abnormal hemoglobin (HbS). This mutation causes red blood cells to…

Hemophilia is a group of inherited, X-linked recessive bleeding disorders characterized by a deficiency in essential clotting factors. The condition prevents the blood from clotting…

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the growth of benign tumors (hamartomas) in various organs, including the brain, kidneys, heart,…

Neurofibromatosis Type 2 (NF2) is a rare, autosomal dominant genetic disorder characterized by the growth of noncancerous (benign) tumors in the nervous system. The hallmark…

Neurofibromatosis Type 1 (NF1) is a multisystem autosomal dominant genetic disorder characterized by the development of multiple benign tumors (neurofibromas), pigmentary skin changes, and systemic…

Angelman Syndrome (AS) is a complex neurogenetic disorder characterized by severe developmental delay, speech impairment, movement or balance disorders, and a uniquely happy demeanor. It…

Prader-Willi Syndrome (PWS) is a complex, multisystem genetic disorder characterized by neonatal hypotonia, hyperphagia leading to obesity, cognitive impairment, and distinct behavioral challenges. It results…

Achondroplasia is the most common form of disproportionate short-stature skeletal dysplasia. It is a genetic disorder characterized by impaired endochondral ossification, leading to shortened proximal…

Lordosis refers to an excessive inward curvature of the lumbar (lower back) or cervical (neck) spine. While a natural degree of curvature is normal for…