Genetic Disorders

As a genetic disorder, Fabry disease is caused by variants in a specific gene. Do you know which gene is affected?

Do you know which conditions are associated with autoimmune polyendocrine syndrome (APS) type 2 and which tests are useful in the diagnosis and management of APS type 2? Test your knowledge with this pop...

A 2-year-old boy presents with his parents to a pediatric clinic. He had previously been diagnosed with hypospadias. His parents explain that he has been showing symptoms of troubled breathing, excessive...

Fabry disease affects multiple bodily systems. Do you know which systems are impacted the most?

Take our pop quiz to find out the least severe form of Ehlers-Danlos syndrome.

In this new interactive quiz, we present a case of a 4-month-old girl who presents with signs of joint pain and hyperpigmentation of the skin over the joints. Can you take the correct diagnostic steps and...

Infantile systemic hyalinosis typically results in death by which age? Take the quick quiz and find out.

When do clinical manifestations of antiphospholipid syndrome become apparent? Take our quick quiz and find out.

Hutchinson-Gilford progeria syndrome affects 1 in 4 million live births. Do you know when the rare genetic syndrome was first described? Find out by answering this question.

Do you know when the majority of individuals with familial Mediterranean fever have their first episode? Take our pop quiz to find out.