Batten turner congenital myopathy is a rare genetic disorder that is passed down through families. The exact cause of the condition is unknown, but it is thought to be associated with problems in the genes that control muscle development and function. There are a number of risk factors that have been identified as being associated with batten turner congenital myopathy. These include: 1. Having a family history of  Read More

Batten Turner Syndrome is a rare genetic disorder that is characterized by progressive vision loss and neurological problems. The exact cause of the condition is unknown, but it is believed to be caused by a mutation in a gene called CLN3. Batten Turner Syndrome typically begins in childhood, and affects both males and females equally. There is currently no known cure for the condition, but treatments are available to help man  Read More

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differe  Read More

Froehlich syndrome is an unique childhood metabolic condition characterised by obesity, developmental delay, and slowed genital organ development. Here are the risk factors for Froehlich syndrome: Froehlich syndrome is caused by an injury to the hypothalamus. The hypothalamic gland is an endocrine gland responsible for stimulating the pituitary gland and regulating appetite. The front chunk of the pituitary gland struggles to secrete the hormo  Read More

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulphonamide medications and/or psychological stress. Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardatio  Read More

Usually, the only indication of a hydrocele is a painless swelling of one or both testicles. Adult men with a hydrocele might experience discomfort from the heaviness of a swollen scrotum. Pain generally increases with the size of the inflammation. Sometimes, the swollen area might be smaller in the morning and larger later in the day. When to see a doctor See your doctor if you or your child experiences scrotal swell  Read More

Normal liver function tests, high bilirubin levels, and genetic testing are all necessary for the diagnosis of unconjugated benign bilirubinemia to confirm the condition. The use of drugs to treat this syndrome is not justified because of how benign and unimportant it is. When using medications that are conjugated by the liver, such as acetaminophen and irinotecan, there is an increased risk of side effects and tox  Read More