Kostmann syndrome is an inherited disease causing low levels of neutrophils, making patients vulnerable to bacterial infections. Treatment with granulocyte colony-stimulating factor can increase neutrophil production, but patients are at a higher risk of developing leukemia. Kostmann syndrome is an inherited disease in which the number of certain white blood cells, known as neutrophils, is […]
Tests for Down syndrome during pregnancy include blood tests and ultrasounds to check for abnormal levels of chemicals and hormones, as well as physical characteristics of the fetus. Chorionic villus sampling and amniocentesis can also be performed. After birth, symptoms of the condition may prompt further testing. Down syndrome is a genetic disorder that creates […]
Turcot syndrome increases the risk of developing colon or brain cancer due to mutations in different genes. It is often a subset of other syndromes, such as familial adenomatous polyposis syndrome or Lynch syndrome. Diagnosis can be made through genetic testing or the presence of characteristic tumors. Aggressive screening and prophylactic removal of the colon […]
Short legs syndrome causes pain and discomfort in the back and legs due to a difference in leg length. It can be caused by medical conditions, poor posture, or injuries. Treatment includes wearing shoes with better healing or lift, custom orthotics, or surgery. Early diagnosis and treatment are important to reduce painful symptoms. Short legs […]
Gianotti Crosti syndrome is a skin disorder that can be caused by various viruses, including hepatitis B, Epstein-Barr, and HIV. It appears as papules on the skin, mainly affecting children. Treatment is usually unnecessary, but antihistamines or antibiotics may be prescribed to control symptoms. Gianotti Crosti syndrome is a skin disorder most commonly associated with […]
Bloom syndrome is a genetic disorder caused by a malfunction in the BLM gene, resulting in chromosome breaks and rearrangements. It is common in Eastern Europeans, especially Ashkenazi, and can cause physical and mental disabilities, respiratory problems, fertility issues, immune deficiencies, and an increased risk of cancer. There is no cure, but genetic testing and […]
Möbius syndrome is a rare birth defect caused by incomplete neurodevelopment, affecting fewer than twenty children per million. Symptoms include facial paralysis, difficulty feeding, and lack of facial control. There is no known cure, but physical therapy and surgeries can help patients cope. Möbius syndrome, also called Moebius syndrome, is a rare birth defect caused […]
Post-concussion syndrome affects 15% of people who have had a concussion, with symptoms including dizziness, headaches, and difficulty sleeping. It is unclear why some people develop the syndrome, but age and gender are risk factors. Treatment involves managing symptoms, and in some cases, MRI tests or medication may be used. Post-concussion syndrome is an unusual […]
Hunter syndrome is a rare metabolic disorder that causes bodily changes due to the lack of an enzyme called iduronate-2-sulfatase. It is hereditary and has two types, MPS IIa and IIb, with IIa being more severe and causing developmental regression. There is no cure, and treatment depends on symptom expression. Testing is available for those […]
Cowden syndrome is a rare genetic disorder that causes non-malignant growths called hamartomas to form in various parts of the body, increasing the risk of certain types of cancer. It is caused by a mutation in the PTEN gene, which leads to uncontrollable cell division. The syndrome is not curable, but regular screening can detect […]
The Syndrome X diet aims to reverse metabolic syndrome by promoting healthy eating and moderate exercise. It recommends fresh fruits and vegetables, whole grains, lean meats, and low-fat dairy while avoiding high-fat, high-sugar, and processed foods. Exercise is also important, with brisk walking for at least 30 minutes a day recommended. Low-carb meal plans like […]
Angelman syndrome is a genetic disorder that affects the nervous system, causing developmental delays, movement disorders, and short attention spans. There is no cure, but supportive therapies can help patients live a happy life. The condition is caused by a deletion of genetic material on chromosome 15 and is not hereditary. It is named after […]
Hypereosinophilic syndrome is a rare blood disorder caused by an overproduction of white blood cells that can damage organs such as the heart and liver. The cause is unknown, and symptoms mimic other conditions, making diagnosis difficult. Treatment depends on severity and affected organs. Hypereosinophilic syndrome is a rare blood disorder that causes an overproduction […]
Goldenhar syndrome is a rare congenital condition that affects the head and spine. It can cause physical abnormalities in the eyes, ears, and lips, and can lead to speech problems. The cause is unknown, but treatment can involve hearing aids, dental procedures, speech therapy, and plastic surgery. The prognosis is generally good. Goldenhar syndrome, also […]
Eosinophilia-myalgia syndrome is a rare, incurable, and occasionally fatal condition caused by contaminated L-tryptophan supplements. Symptoms include muscle spasms, fever, fatigue, and skin disorders. The initial period lasts weeks to months, followed by chronic complications such as neurocognitive dysfunctions, heart or liver disease, and chronic pain or fatigue. The syndrome became a national epidemic in […]
Cat’s eye syndrome is a rare genetic condition caused by extra copies of parts of the 22nd chromosome. Symptoms include coloboma, anal irregularities, widely spaced eyes, and heart defects. The severity of the condition varies, but with effective treatment, people can live normal lives. Cat’s eye syndrome is a rare genetic condition that can be […]
Scimitar syndrome is a congenital heart defect where one or more pulmonary veins from the right lung drain into the wrong side of the heart, causing the heart to work harder. It can vary in severity and is usually diagnosed through medical imaging. It may have hereditary factors. Scimitar syndrome is a congenital heart defect […]
Marfan syndrome is a genetic disease that affects connective tissue, causing various health problems and reducing life expectancy. Women tend to live longer than men. Symptoms vary, but can include reduced lung and blood vessel function, skin and eye disorders, and nervous system problems. Medical management can help those with Marfan syndrome live relatively normal […]
Alport syndrome is a congenital disorder causing inflammation of the glomeruli in the kidneys, hearing loss, hematuria, and vision disturbances. It is caused by mutations in collagen biosynthesis genes and is usually X-linked. There is no known cure, but symptoms can be treated with medication and dialysis/kidney transplantation. Gene therapy is a potential treatment. Alport […]
Williams syndrome is a genetic condition that causes abnormal physical and mental development. Symptoms include sociability, unusual language skills, elfin facial features, cardiovascular problems, high blood calcium levels, abnormal dental development, hyperacute hearing, and challenges with learning such as mental retardation and attention deficit disorder. Personality traits include high sociability and exceptional language skills, but […]
