Usher syndrome is a rare genetic disorder characterized by a combination of hearing loss and vision impairment. It is the most common cause of deafblindness, affecting both hearing and vision functions. Types –This syndrome is classified into three main types:• Usher syndrome type 1 (USH1)• Usher syndrome type 2 (USH2)• Usher syndrome type 3 (USH3).Each […]
Leigh’s disease, also known as Leigh syndrome, is a rare and severe neurological disorder primarily affecting infants and young children. It is a progressive genetic disorder that primarily impacts the central nervous system.It falls under the category of mitochondrial diseases, characterized by dysfunction in the energy-producing structures within cells, known as mitochondria. Types –Leigh’s disease […]
DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. This deletion leads to a wide range of physical and developmental problems. DiGeorge syndrome (22q11.2 deletion syndrome) can affect anyone since 90% of cases occur as a result of a random deletion […]
Apert syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones, leading to distinct facial and limb abnormalities. This condition falls under the umbrella of craniosynostosis syndromes, where the premature closure of skull sutures affects normal skull and facial development. This syndrome, also known as acrocephalosyndactyly type 1, is primarily […]
Fabry disease is a rare genetic disorder that can have serious implications for those affected. Fabry disease, also known as Anderson-Fabry disease, is a hereditary disorder caused by mutations in the GLA gene, responsible for encoding an enzyme called alpha-galactosidase A. This enzyme is essential for breaking down a fatty substance known as globotriaosylceramide (Gb3). […]
Thalassemia(Abnormal Hb) is a group of inherited blood disorders characterized by abnormal hemoglobin production, leading to reduced red blood cell production and anemia. It is a genetic disorder that affects the synthesis of hemoglobin, the oxygen-carrying protein in red blood cells. It is characterized by the reduced production or malfunctioning of either alpha or beta […]
Sickle cell anemia is a hereditary blood disorder characterized by the production of abnormal hemoglobin, resulting in misshapen red blood cells. It is a genetic disorder caused by a mutation in the gene responsible for producing hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. This mutation leads to the […]
Cystic fibrosis (CF) is a genetic disorder that primarily affects the respiratory and digestive systems. It is characterized by the production of thick and sticky mucus, which can obstruct the airways, impair lung function, and hinder the proper digestion of food. Symptoms –Common symptoms of CF includes –• Chronic coughing• Frequent lung infections• Wheezing• Breathlessness• […]
Ectodermal dysplasia is a large group of inherited disorders characterised by a primary defect in hair, teeth, nails or sweat gland function, in addition to another abnormality in any tissue of ectodermal origin. These are ears, eyes, lips, mucous membranes of the mouth or nose, and the central nervous system. The ectoderm is the outermost layer of cells in embryonic development and contributes to the formation of many […]
Thalssemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalssemia, you might not need treatment. But more severe forms might require regular blood transfusions. Symptoms –The symptoms of thalssemia […]