Lesch-Nyhan syndrome is a genetic condition that affects only boys and causes a buildup of uric acid, leading to neurological problems, joint pain, and kidney problems. Patients experience developmental delays and physical handicaps, as well as involuntary muscle spasms and self-mutilation. Treatment focuses on patient care, and carriers may develop gout later in life. Parents […]
Arcuate ligament syndrome is a condition where the celiac artery is compressed by the median arcuate ligament, causing symptoms such as abdominal pain, weight loss, nausea, and vomiting. It affects over 10% of the world’s population, with women being more frequently affected. Diagnosis is done through ruling out other conditions and using imaging techniques. Treatment […]
Reye’s syndrome is a neurological condition that affects children and adolescents recovering from a viral infection, often after taking aspirin. It can be fatal and symptoms include lethargy, confusion, seizures, and vomiting. Avoid giving aspirin to children recovering from a virus to minimize the risk of developing the disease. Reye’s syndrome is a serious neurological […]
Parinaud syndrome causes red and painful eyes, abnormal eye movements, swollen lymph nodes, and fever. It can be caused by parasites, brain injury, or bacteria/viruses. Treatment depends on the cause and may include antibiotics or surgery. Prevention includes good hand hygiene and avoiding touching the eyes. Parinaud syndrome is an eye condition similar to conjunctivitis […]
Hematuria is the presence of blood in urine, which can indicate a serious condition if symptoms persist. Treatment depends on the underlying cause and may include antibiotics or surgery. Diagnosis involves physical exams and diagnostic tests such as urinalysis and imaging. Treatment focuses on relieving the secondary condition causing the symptoms. Hematuria syndrome is a […]
Crome syndrome is a rare condition that often leads to death within the first eight months of life. Symptoms include congenital eye problems, kidney problems, seizures, mental retardation, and short stature. Treatment focuses on managing symptoms as there is no cure. Crome syndrome is a condition that typically appears shortly after birth and is relatively […]
Mirizzi syndrome is a rare complication of gallstone disease that can lead to serious health conditions. It can be difficult to diagnose without proper imaging tests, and if not discovered early, it can lead to morbidity or death. Treatment is usually surgical, and early diagnosis is crucial for a good prognosis. Mirizzi syndrome is a […]
Smith-Lemli-Opitz syndrome is a rare inherited disorder caused by an enzyme deficiency that leads to a lack of natural cholesterol in the body, resulting in physical and mental developmental problems. There is no cure, but dietary supplements and corrective surgery can alleviate some symptoms. It is detected before birth through ultrasound examinations and confirmed through […]
Autoimmune diseases occur when the immune system attacks the body, and are more common in women. The cause is unknown, but it is believed to involve the body losing the ability to distinguish between its own components and pathogens. There are many diseases that can be classified as autoimmune syndrome, and treatment focuses on reducing […]
DiGeorge syndrome is a genetic disorder caused by a deletion or abnormality of chromosome 22, resulting in immune system suppression, heart defects, and physical abnormalities. It can be inherited or arise spontaneously. Treatment involves surgery and lifelong medical management. DiGeorge syndrome is a genetic disorder that can cause a number of different symptoms. The condition […]
Cyclic vomiting syndrome causes severe episodes of nausea and vomiting without apparent gastrointestinal disease. It can last for days or weeks and is triggered by stress, exhaustion, overeating, and certain foods. Treatment focuses on maintaining comfort and preventing dehydration. Cyclic vomiting syndrome is a type of disorder that affects the digestive symptom. The syndrome is […]
Twin-to-twin transfusion syndrome affects identical twins due to a problem with the placenta, causing one twin to receive most of the blood flow while the other receives less. Advances in obstetrics now allow most twins to survive the condition, with treatments including amniocentesis and laser surgery. The condition is not a birth defect, hereditary, or […]
Serotonin syndrome is caused by an excess of serotonin in the brain, which can be caused by medications, illicit drugs, and certain diseases. Symptoms range from mild to severe and can lead to death. Treatment involves stopping any contributing medications and possibly administering a serotonin-thumping drug. Those with risk factors should seek medical attention if […]
Gardner syndrome is a subtype of familial adenomatous polyposis (FAP) caused by a mutation in the APC gene, which can be passed on from both parents. It causes noncancerous tumors in the intestinal tract and increases the risk of colorectal and other cancers. Testing for the APC gene mutation is necessary for diagnosis and identifying […]
Hermansky-Pudlak syndrome is a recessively inherited genetic mutation that can cause decreased pigmentation, bleeding disorders, lung problems, and other complications. Treatment involves symptom management and consulting with different medical professionals. Regular monitoring and genetic counseling may also be necessary. Hermansky-Pudlak syndrome is a form of albinism first recognized in the 1950s by the two Czech […]
Diethylstilbestrol (DES) syndrome is a reproductive health issue in women born to mothers who took the synthetic estrogen during pregnancy. It can cause vaginal and cervical cancers, infertility, and breast cancer. DES was used from the late 1930s to the 1980s to prevent miscarriages and stillbirths. Women born between 1940 and 1980 may be at […]
Canister syndrome is a condition where babies experience motor delays due to lack of tummy time. This is caused by spending too much time on their backs in devices like car seats, swings, and strollers. Parents should ensure their babies have enough tummy time to prevent developmental delays. Safe playpens and baby carriers can also […]
Rett syndrome is a rare neurodevelopmental disorder caused by errors on the X chromosome, mainly affecting girls. It has four stages, with symptoms including developmental and neurological problems, behavioral issues, and mobility problems. While there is no cure, treatments can manage symptoms and improve quality of life. Rett syndrome is a rare disease that occurs […]
Crouzon syndrome is a rare genetic deformity that involves premature closure of the coronal suture of the skull, causing physical malformations such as drooping eyelids, large protruding eyes, and an underdeveloped upper jaw. It is similar to Apert syndrome but does not affect the hands and feet. The disease is caused by a gene deviation […]
Dressler syndrome is an inflammatory condition affecting the heart muscle, caused by an overactive immune response to heart injury or disease. Symptoms include chest pain, shortness of breath, and fatigue. Treatment involves managing symptoms with anti-inflammatory medication, and in severe cases, surgery may be required. Dressler syndrome is an inflammatory condition that can adversely affect […]
