Open for dropdown menu.

Join the Club

Subscribe to our e-newsletter and have medical mysteries delivered to your inbox! You will learn about all types of topics, including...

Rare Medical Conditions

Mermaid syndrome

Sirenomelia, also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs. Most newborns don’t survive for long with this anomaly, but some children defy the odds.

Maple syrup urine disease

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by a deficiency of an enzyme that is required to break down the amino acids leucine, isoleucine, and valine. MSUD is unique in its characteristic odor, reminiscent of maple syrup, which can be detected in the urine and earwax within a day or two of birth.

Klinefelter syndrome

Klinefelter syndrome is a chromosomal variation in males in which one extra X chromosome is present. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. It is believed that the founding father of the United States, George Washington, was unable to have children due to Klinefelter syndrome.