Rare genetic disorders

Discover 38 intriguing facts about Oliver-Mcfarlane Syndrome, a rare genetic disorder. Learn symptoms, causes, and treatments at Facts.net.

Coffin-Siris syndrome is a rare genetic disorder affecting several body systems. It leads to developmental disabilities and physical abnormalities.

This world has no shortage of genetic disorders. However, some are so rare that many people haven’t heard of them. Several rare genetic diseases affect ... Read more

Jared Gale, 38, of Utah, spent years perplexed as to why his body wasn't developing as it should be - leaving him looking 10 years old at 18 - before he was diagnosed with Kallmann Syndrome.

Swelling of body parts is a common phenomenon we all experience in various instances in regular life. Sometimes, this inflammation may not be an innocent swelling but something more serious like hereditary angioedema in children. A rare genetic disorder that can cause unnecessary and unexpected swelling in your child can be quite alarming. Does your child have hereditary angioedema? Here is all you need to know about this genetic condition.

Karen Haberberg documents the lives of children with rare genetic conditions in her book "An Ordinary Day: Kids with Rare Genetic Conditions."

Colin Farrell opened up to PEOPLE about his son James, who was diagnosed with Angelman syndrome. Here’s what to know about the rare neurogenetic disorder that affects 1 in 15,000 people.

When Tobias was diagnosed, doctors told his mum Maria not to google it, as she’d only see horrific images of what could be. Maria shares her story with journalist, Carrol Baker.

01. Uner Tan Syndrome is a rare genetic disorder which causes people to walk with quadrupedal locomotion. They are also afflicted with “primitive” speech and severe mental retardation.

Caitin Stickels is a 29-year-old model with Schmid-Fraccaro syndrome.