Genetic Disorders

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.

There are several types of spinal muscular atrophy, a genetic disorder caused by a loss of motor neurons. Do you know the difference between the types? Find out by taking our Pop Quiz!

When evaluating a patient for possible Danon disease, several other diagnoses should be considered. Do you think you know the similar diagnoses to Danon disease? Take the quiz to test your knowledge!