Ehlers-Danlos syndrome

Ehlers-Danlos Syndrome
Pathology
Type	Genetic
Cause(s)	Defect in one of the genes responsible for collagen
Symptoms	Loose joints, inflammed joints, malfunction of the autonomous nervous system, chronic fatigue, flat feet, narrow palate, frequent chest and sinus infections, aneurysms, smooth stretchy translucent skin, abnormal healing of wounds, muscle weakness, migraines
Mortality rate	Low, but can be debilitating
Treatment(s)	Supportive treatment, physical therapy, pain medication
Appearance(s)	The Dig

Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and/or easily damaged blood vessels. It is caused by a genetic mutation in which the body creates less collagen.

There are 6 types of EDS:

• Classical type affects about one in 20,000. In additionan to hypermobility the patient has significant skin manifestations such as easy bruising and very hyperelastic skin.
• Hypermobile type affects more than one in 10,000 and results in frequent dislocations, subluxations and less skin involvement than Classical type.
• Vascular type is very rare and only affects one in 100,000. Vascular patients are typically have large eyes, small chin, sunken cheeks, thin nose and lips and lobeless ears. Veins and organs are fragile making this the most serious form.
• Kyphoscoliosis type is exceptionally rare with only 60 reported cases worldwide. The main symptoms are progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness.
• Arthrochalasia type is even rarer with only 30 known cases. It's an extreme version of the hypermobile type with very loose joints and frequent dislocations of the hips.
• Dermatosparaxis type is the most rare with only 10 reported cases. It's an extreme form for classical type with sagging and extremely fragile skin.

All types have common symptoms such as some of the classical and hypermobile features and even some vascular features such as skin and organ hyperelasticity including severe pain, joint hypermobility, skin issues, gastrintestinal problems, fatigue, heart problems and a resistance to local anaestetics and painkillers. Overall it's currently estimated about one in 5,000 have some form of EDS, however many of the more minor versions of hypermobile and classical type are often undiagnosed or is misdiagnosed. 

For most people living with this disorder, lifespan is normal. For a few, even, they are in little pain and have merely double-jointedness and stretchy skin. Many experience pain that greatly interferes with their life on a day-to-day basis and need to take very strong opiate/opiod painkillers. However, those with the rare vascular type of EDS are at significantly increased risk for rupture of a major organ or blood vessel. Average life expectancy of these individuals is 48 years. These individuals, therefore, have a high risk of sudden death. Intelligence is normal. Most people with this disorder look "normal" although they typically retain a slightly youthful look and have softer skin.

Ehlers-Danlos syndrome at NIH

Ehlers-Danlos syndrome at Wikipedia

A woman with Ehlers-Danlos talks about her condition at Cracked.com