Marshall syndrome is a genetic disorder that affects connective tissue and can cause hearing loss, eye problems, joint hyperextensibility, and facial abnormalities. It is similar to Stickler syndrome and has no cure, but treatment and therapy can help manage symptoms. It is inherited on a non-sex chromosome and can vary in expression within families. Symptoms […]
Adie syndrome causes permanent dilation of the pupils and slowed reflexes in tendons. It is more common in women and may be related to other nervous system diseases or autoimmune responses. Testing involves an eye exam and drops can be used to aid in constriction of the pupils. Adie syndrome is a condition in which […]
Maffucci syndrome is a rare disease causing multiple benign cartilage tumors and abnormal blood vessel growths. Its cause is unknown, but a genetic mutation is suspected. Patients may experience complications such as bone fractures and tumors. Treatment focuses on managing symptoms and monitoring for malignancies. Maffucci syndrome, also known as osteochondromatosis, is a rare disease […]
Van der Woude syndrome is a rare genetic disorder related to cleft lip and palate, characterized by pits or depressions of the lower lip, clefting of the lip and palate, and missing teeth. It is primarily cosmetic and can be treated with surgery, but there is a genetic factor and children of people with the […]
Antiphospholipid antibody syndrome causes abnormal blood clotting due to autoimmune reactions. Treatment involves anticoagulant drugs, and pregnant women are at risk of complications. Symptoms include pain and a rash, and a definitive diagnosis requires ruling out other causes. Blood thinners and surgery may be necessary for treatment, and pregnancy is high risk for those with […]
Cracked tooth syndrome is a dental condition caused by small fractures in the tooth, often not visible on X-rays. It can cause pain when chewing or biting. People who clench or grind their teeth, have gum disease, large fillings, or root canals are more prone to it. There are different types of cracks, and treatment […]
Congenital rubella syndrome (CRS) affects babies in the womb when the mother is infected with rubella. Symptoms include deafness, heart and eye defects, abnormal mental and physical development, and diseases such as diabetes. The MMR vaccine has reduced cases of CRS. Symptoms are caused by the rubella virus harming the fetus during the first trimester […]
Popliteal artery entrapment syndrome is a rare disorder where the popliteal artery and calf muscle are abnormally oriented, causing leg pain, numbness, and tingling. Treatment may include medication, activity restriction, or surgery, and regular appointments with a doctor are important to prevent complications. Diagnosis is confirmed through an arteriogram, and mild cases can be treated […]
Alcohol consumption during pregnancy is the leading cause of preventable physical and mental birth defects in the US. Fetal Alcohol Spectrum Disorders (FASD) is a general term for children affected by maternal alcohol use while in the womb. Fetal alcohol syndrome (FAS) is a specific group of developmental and physical problems that can affect a […]
Diseases have a known cause, consistent symptoms, and measurable anatomical changes, while syndromes have a group of symptoms that often occur together, but the cause is unknown and there may not be a measurable anatomical change. Patients with both can face similar difficulties, and treatment for syndromes usually focuses on managing symptoms. Lyme disease is […]
Lazarus syndrome, where a patient is pronounced dead but then suddenly returns to life, is a rare medical phenomenon with various theories about its cause. The legal and physiological implications of mispronouncing someone as dead have led to underreporting, and the phenomenon has raised questions about when a person can be considered dead. Lazarus syndrome, […]
Munchausen syndrome is a factitious disorder where patients simulate physical illness to gain sympathy and attention. It is difficult to detect and often caused by histories of abuse and comorbid psychological disorders. Treatment is primarily psychiatric and recovery is a long process. Munchausen syndrome is a form of factitious disorder, a psychological condition in which […]
West syndrome is a rare form of epilepsy that affects newborns, with symptoms appearing three to twelve months after birth. It is caused by abnormal interactions between the brainstem and cortex, and treatment involves a combination of medications, a ketogenic diet, and surgery. The prognosis varies on an individual basis, with about 50% of children […]
Nephritic syndrome is inflammation of the kidneys that can lead to kidney failure. It can be caused by autoimmune disorders, bacterial infections, genetic abnormalities, or unknown reasons. Symptoms include fatigue, headaches, swelling, and brown or rust-colored urine. Diagnosis involves a physical exam, blood and urine tests, and a biopsy. Treatment includes bed rest, dietary changes, […]
Boerhaave syndrome is a tear in the esophagus caused by violent vomiting, with symptoms including chest pain and subcutaneous emphysema. Early treatment is crucial for survival, with mortality rates estimated at 30%. Alcohol consumption and male gender increase the risk. Mallory-Weiss syndrome is similar but occurs in the mucous membrane and is rarely fatal. Boerhaave […]
Apical swelling syndrome weakens the heart muscle, making it difficult to pump blood and causing symptoms similar to a heart attack. Also known as Takotsubo cardiomyopathy or “broken heart syndrome,” it is often linked to emotional distress and is more common in older women. Treatment involves stabilizing drugs and sometimes medical devices. If left untreated, […]
Alien hand syndrome is caused by damage to the connection between the left and right brain hemispheres, resulting in a hand that appears to have a mind of its own. It is often caused by stroke, infection, degenerative brain disorders, or traumatic brain injury. Treatment involves giving the alien hand something to grasp or some […]
Cushing’s syndrome is caused by an excess of steroid hormones, particularly cortisol, which can lead to weight gain and a range of other symptoms. It can be caused by irregularities in the adrenal or pituitary glands and can be difficult to diagnose. Treatment depends on the cause and can involve surgery, radiation therapy, or chemotherapy. […]
Deletion syndromes are genetic disorders caused by the deletion of genetic material, which can vary in severity and affect populations worldwide. They can develop in several ways, including errors during egg or sperm production, fetal development, and frameshift mutations. Some deletion syndromes can cause anomalies incompatible with life, while others can result in disabilities. The […]
Caplan syndrome is lung scarring caused by exposure to silica, coal mining dust, or asbestos, often occurring in patients with rheumatoid arthritis. Improved regulations have decreased its occurrence, but it still poses a risk in some countries. Symptoms include breathing difficulties, cough, and wheezing, and there is no cure. Smoking aggravates the symptoms, and doctors […]
