Werner syndrome is a rare autosomal recessive disease causing premature aging, often classified as a progeroid syndrome. It is caused by an inherited mutation in the RECQL2 gene and is more prevalent in the Asian population. Patients tend to age rapidly after puberty, resulting in shorter stature and various age-related diseases. There is no cure, […]
Opitz-Kaveggia syndrome, also known as FG syndrome, is a rare genetic disorder linked to the X chromosome that causes developmental delays, physical abnormalities, and health problems. It can result in mental disabilities, hyperactivity, bowel abnormalities, facial deformities, and loss of the corpus callosum. Children with FG syndrome have unique physical, mental, and behavioral needs that […]
Kabuki syndrome is a genetic condition that affects facial development, causing people to have high arched eyebrows, thick eyelashes, wide noses, and other structural features that resemble Kabuki actors. It can also cause developmental delays, short stature, and behavioral abnormalities. While there is no cure, early diagnosis and management can help support patients as they […]
Potter syndrome is a congenital abnormality caused by kidney disease, resulting in poor lung development, kidney failure, and physical abnormalities. Lack of embryonic kidney function leads to oligohydramnios, which can cause complications for the developing fetus. Treatment is supportive, and diagnosis can occur in utero or after birth. The term Potter syndrome refers to a […]
Freeman-Sheldon syndrome affects hands, feet, and face with common facial features including pursed lips, a shorter nose, and a prominent forehead. Joint deformities limit mobility and can cause painful contractures. Patients may have an increased risk of complications when taking certain medications. Intelligence is usually not affected. Psychological therapy is recommended. Freeman-Sheldon syndrome is a […]
Fetal hydantoin syndrome is caused by exposure to phenytoin during fetal development, resulting in physical abnormalities, developmental delays, and organ damage. Treatment is based on individual symptoms. Common physical deformities include cleft lip or palate, low-set ears, and small fingers. Gastrointestinal disorders such as pyloric stenosis or duodenal atresia may also be present and require […]
Subclavian steal syndrome causes symptoms such as fainting, arm numbness, and vision problems due to an abnormality in blood flow through one or both subclavian arteries. Diagnosis and treatment are recommended, as it can affect brain function. The syndrome is caused by stenosis or occlusion of the subclavian artery, which can lead to a decrease […]
Binder’s syndrome is a rare congenital disorder affecting the face and cervical spine, often seen with other congenital conditions. It causes a flat nose bridge, an undeveloped upper jaw, and a protruding lower jaw line. The cause is unknown, but there may be a possible genetic link. Treatment options include nose graft surgery. Also known […]
Erythroderma, or red man syndrome, causes inflamed, red, and flaky skin and can be a symptom of a larger problem. Treatment varies depending on the underlying cause, and corticosteroids are often prescribed. It can be life-threatening and is more common in men over 40 with a family history of skin conditions. Erythroderma, also known as […]
Post-viral fatigue syndrome, also known as chronic fatigue syndrome, is a condition that causes long-term tiredness, muscle and joint pain, headaches, and trouble concentrating. It is more common in women and its causes are still unknown. There is no proven treatment, but doctors may treat symptoms and encourage exercise or cognitive therapy. Some medications can […]
Pallister-Killian syndrome is a rare genetic disorder causing developmental delays, abnormal skin pigmentation, and other birth defects. It is not inherited and caused by chromosomal abnormality. Symptoms vary and treatment is focused on individualized care. It can be detected by prenatal testing, and severe cases can be life-threatening. Pallister-Killian syndrome, also known as PKS, is […]
Stockholm Syndrome is a psychological behavior where hostages show loyalty or sympathy for their captors. It can also occur in cases of domestic abuse. The term originated from a 1973 bank robbery in Stockholm. Psychiatrists argue it’s a brainwashing technique or a defense mechanism for survival. It’s commonly used in the military to build loyalty […]
Alice in Wonderland Syndrome is a neurological disorder that causes visual, auditory and tactile hallucinations, often making objects appear to shrink or grow. It is most commonly associated with migraines, epilepsy and mononucleosis, and can be a sign of an underlying medical condition. Alice in Wonderland Syndrome (AIWS) is a neurological disorder that interrupts the […]
Extrapyramidal syndrome is a movement disorder caused by damage to the extrapyramidal tract, often caused by psychiatric drugs. Patients may need mobility aids, physical therapy, and medication. It is important to communicate with a doctor about side effects when taking psychiatric medications. Extrapyramidal syndrome is a movement disorder caused by damage to the extrapyramidal tract, […]
Smith-Magenis syndrome is a rare genetic disorder caused by the deletion of the RAI1 gene on chromosome 17, resulting in physical and mental health problems. Symptoms include characteristic facial features, developmental problems, sleep difficulties, and behavioral outbursts. There is no cure, but treatment can improve symptoms and quality of life. Smith-Magenis syndrome is a rare […]
Snapping hip syndrome causes a distinctive snapping sensation when the connective tissue protecting the hip shifts. It is common in athletes, especially dancers, gymnasts, and runners. Mild cases do not cause pain and may disappear with reduced physical activity. Severe cases may require surgery. Stretching before physical activity can help prevent it. Snapping hip syndrome […]
Posterior fossa syndrome is a set of symptoms that can occur after surgical excision of a mass in the brainstem region, affecting children more often. Symptoms include difficulty speaking, swallowing, moving, and eye movement problems. There are no identifiable risk factors, but early recognition can shorten hospital stays. Posterior fossa syndrome is a set of […]
Asperger’s Syndrome is a type of autism that affects social interaction and understanding unspoken social cues. Those with the condition may struggle in school, be bullied, and have monomaniacal interests. However, they can be taught to decode social cues intellectually and may excel in certain fields. Asperger’s syndrome is a developmental disorder considered to be […]
Wiskott-Aldrich syndrome is a rare, inherited disease that destroys blood cells and the immune system in most males. It is caused by a mutation in blood cells and immune cells and affects about 1-10 births per million worldwide. Symptoms include low platelet counts, frequent infections, inflammation of the skin, and an impaired immune system. Treatment […]
Crocodile tears syndrome, also known as gustatory lacrimal reflex or Bogorad syndrome, causes a person to cry while eating due to a lesion in the geniculate ganglion. Botulinum toxin injections can reduce or eliminate tears, and loved ones should offer support without drawing attention to the tears. Not all Bell’s palsy patients will experience this […]
