Macrocephaly – large head circumference
Contrary to popular belief, not every case of fetal macrocephaly requires a referral to genetic counselling. In fact, a large head circumference is a relatively common symptom, without medical significance. As long as the head circumference is within normal range or slightly above the upper limit, all that is necessary is making sure there are […]
Hemochromatosis
Hemochromatosis (sometimes known as “iron overload”) is a condition that causes the body to store excess iron, which leads to damage to various organs. Hemochromatosis relates to several diseases, some are inherited (genetic) while others are acquired (secondary). Some types develop during adulthood while others are neonatal (symptoms develop during infancy). Hereditary hemochromatosis (adult […]
Hemophilia
Hemophilia is a genetic disorder in which the blood clotting process is impaired. In healthy people, when blood clotting is needed following an injury, various proteins become activated. These proteins are called coagulation factors. Coagulation factors are activated gradually: as soon as one protein is done with its role, the next protein comes into action, […]
Diaphragmatic hernia – hiatal hernia
Diaphragmatic hernia is a congenital defect in the diaphragm. The diaphragm is a muscle that separates the chest from the abdominal organs. It is important to distinguish between cases of diaphragmatic hernia and cases caused by diaphragm paralysis. In diaphragm paralysis, the abdominal organs are located in a higher location, but these organs will nor […]
Wilson disease
Wilson disease is an inherited disorder that causes excess copper buildup in the liver. In this disease, copper accumulates in various body tissues until it causes damage to multiple organ systems, including the liver tissue, the central nervous system, and more. Although effective treatment for this disease is available, without early diagnosis and therapy, irreversable […]
Hereditary hearing loss (congenital deafness)
In recent years, several genes that can cause hearing loss and deafness have been discovered. Today, genetic carriers of mutations in these genes can easily be diagnosed using simple genetic tests. The most common mutations causing hereditary hearing loss and deafness are mutations in the genes connexin 26 and connexin 30, which account for around […]
