What is Klinefelter syndrome?
Klinefelter syndrome is a genetic disorder where a male, instead of having just an X and a Y chromosome, has two Xs, and a Y. And those two Xs tend to feminise the man a bit, so they can have some breast growth. They often are quite tall, and they’re usually infertile. It’s a rare disorder, but as genetic disorders go, it’s by no means a terribly serious one.
Dr Norman Swan, Physician and Journalist
Last Reviewed: 17/09/2020
Haemophilia: what is it?
Bleeding disorders such as Haemophilia and von Willebrand disease are rare health conditions where a person’s blood doesn’t clot properly. This article explains what causes bleeding disorders, how they are inherited, common symptoms, treatment, how many people in Australia have them and where to find more information.
Down syndrome is a genetic disorder, usually associated with a delay in development and some intellectual disability.
Autism spectrum disorder (ASD)
Autism spectrum disorder (ASD) is a developmental disorder that causes problems with social understanding, social behaviour and communication.
Charcot-Marie-Tooth disease is a hereditary disorder marked by slowly progressive muscle weakness in the feet, lower legs, hands and forearms, and a mild loss of sensation in limbs, fingers, and toes.
Muscular dystrophy describes a group of inherited diseases in which the muscles that control movement become progressively weaker and waste away, causing symptoms such as difficulty walking.