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.
Q. Which type of collagen is primarily affected by Ehlers Danlos Syndrome?
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.
Table of Contents
- Q. Which type of collagen is primarily affected by Ehlers Danlos Syndrome?
- Q. Is EDS a lack of collagen?
- Q. Can you have a mild form of Ehlers-Danlos Syndrome?
- Q. What are the signs that suggest a person may have marfans?
- Q. At what age is Marfan syndrome detected?
- Q. Can you have a mild case of Marfan syndrome?
- Q. Can you have marfans and not be tall?
- Q. Can Marfan syndrome skip generations?
Q. Is EDS a lack of collagen?
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.
Q. Can you have a mild form of Ehlers-Danlos Syndrome?
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..
Q. What are the signs that suggest a person may have marfans?
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.
Q. At what age is Marfan syndrome detected?
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.
Q. Can you have a mild case of Marfan syndrome?
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.
Q. Can you have marfans and not be tall?
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.
Q. Can Marfan syndrome skip generations?
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.”
