Indeed, each type of Ehlers-Danlos is a distinct disorder with its own unique symptoms and challenges—and many do not present with joint hypermobility as a defining symptom. And, unlike hEDS, every other form of EDS results from an identified genetic variant.

Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, have been shown to underlie this type of EDS.

The problems seen in patients with EDS can be due to either the poor strength of collagen. It may alternatively be due to the absence of sufficient amounts of structurally normal collagen. The primary complications seen in EDS involve the skin, muscles, skeleton, and blood vessels.

Symptoms range from mild to very severe, and vary with which type of EDS you have. Milder forms of EDS are often not diagnosed until early adulthood, as it can take some time before the symptoms and signs become noticeable. The more severe types, however, are diagnosed mainly in childhood..

Marfan syndrome features may include:

• Tall and slender build.
• Disproportionately long arms, legs and fingers.
• A breastbone that protrudes outward or dips inward.
• A high, arched palate and crowded teeth.
• Heart murmurs.
• Extreme nearsightedness.
• An abnormally curved spine.
• Flat feet.

People are born with Marfan syndrome and related conditions, but they may not notice any features until later in life. However, features of Marfan syndrome and related disorders can appear at any age. Some people have many features at birth or as young children.

Sometimes Marfan syndrome is so mild, few if any, symptoms occur. In most cases, the disease progresses with age and symptoms of Marfan syndrome become noticeable as changes in connective tissue occur.

Not everyone who’s tall or thin or nearsighted has the disease. People who have Marfan syndrome have very specific symptoms that usually occur together, and it’s this pattern that doctors look for when diagnosing it.

Doctors there had more urgent news: The entire family could be at risk. “Dr. Bove told us we would need to be tested for the mutation that causes Marfan syndrome,” Post says. “He told us that Marfan does not skip a generation, so one of us likely had the syndrome.”