Ehlers-Danlos Syndrome

We went to see a see a genetic specialist on Friday because the orthopedic surgeon that Thomas went to see for his chest wall suspected that some of us had this rare genetic disorder. Unfortunately, Thomas, Amanda, Aaron, and I all seem to have it. Lainie is a bit too young to know for sure. We all need to follow up with a cardiologist so we can have our heart valves looked at to rule out any problems. Thomas will be having his work up first because he has a significant heart murmur. This also helps explain Amanda's scoliosis and Thomas' protruding chest cavity. I copied and pasted some information to help explain this condition.

Ehlers-Danlos Syndrome (EDS) is an inherited disorder that affect connective tissues, primarily skin, joints and blood vessel walls. 

Ehlers-Danlos syndrome, is when a genetic mutation disrupts the production of collagen, the main component of connective tissue. There are several types of Ehlers-Danlos syndrome with varying symptoms, but all types affect the joints, and most affect skin.

Complications of Ehlers-Danlos syndrome limit physical activities. High impact sports should be avoided but some sports such as swimming can actually be beneficial. The syndrome does not affect mental function.

Symptoms vary depending on which type a person has and from person to person even within the same family. The most common forms of Ehlers-Danlos syndrome (EDS Type I and II) which is what we all have, this is a partial list of characteristics. You must exhibit one or more of these traits.

• skin problems soft velvet-like skin
• stretchy, fragile skin that bruises or tears easily
• stretchy rubber band-like skin
• easy or severe bruising
• poor and slow wound healing (usually taking weeks to months to heal)
• scoliosis
• joint problems
• loose unstable joints causing frequent dislocations usually occurring in the shoulders, knees, hips, collar bone or jaw
• double jointed-ness (hyper extensible joints), extreme in some cases (flexible joints that extend beyond the normal range of movement).
• fatigue
• eye problems
• nearsightedness
• loose joints
• highly elastic, velvety skin
• fragile skin that bruises or tears easily
• redundant skin folds, such as on the eyelids
• preterm labor
• abnormal scar formation
• muscle fatigue and pain
• heart valve problems (mitral valve prolapse and aortic root dilation)
• hernia
  
  Ehlers-Danlos syndrome is caused by genetic alterations (mutations), passed on from parent to child, that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues, skin, tendons, ligaments, cartilage, organs, and blood vessel walls. These genetic mutations alter normal enzyme activity, leaving connective tissues weak and unstable.
  
  Most EDS types are passed along in an inheritance pattern called autosomal dominant. This means you need only one copy of the disease-causing mutation, inherited from either parent, to develop signs and symptoms of the disease. If you inherit the mutation, each of your children will have a 50 percent chance of inheriting the mutation from you.