The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.

Contents

 [hide]

• 1 Classification
  • 1.1 Other types
• 2 Signs and symptoms
• 3 Genetics
• 4 Diagnosis
  • 4.1 Differential diagnosis
• 5 Management
• 6 Prognosis
• 7 Epidemiology
• 8 Society and culture
• 9 In other animals
• 10 See also
• 11 References
• 12 External links

[edit] Classification

In the past, there were more than 10 recognized types of Ehlers?Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names.^[4] These six major types are listed here. Other types of the condition may exist, but they have been reported only in single families or are not well characterized. Except for hypermobility, the specific mutations involved have been identified and they can be precisely identified by genetic testing; this is valuable due to a great deal of variation in individual presentation of symptoms which may confuse classification of individuals on purely symptomatic basis. In order of prevalence in the population, they are:
Name Number Description OMIM Gene(s)
Hypermobility type 3 Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Extreme hypermobility is the hallmark of this type. 130020 COL3A1, TNXB
Classical types 1 & 2 Affects approximately 1 in 20,000 to 50,000 people. It is caused by autosomal dominant mechanism and affects type-V collagen, as well as type I. Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement. 130000, 130010 COL5A1, COL5A2, COL1A1
Vascular type 4 Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers?Danlos syndrome because blood vessels and organs are more prone to tearing (rupture). Many patients with EDS type 4 express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen). About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40. 130050 COL3A1
Kyphoscoliosis type 6 Is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness. 225400, 229200 PLOD1
Arthrochalasis types 7A & B Is also very rare, with about 30 cases reported. It affects type-I collagen. The arthrochalasia type is characterised by very loose joints and dislocations involving both hips. 130060 COL1A1, COL1A2
Dermatosparaxis type 7C Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin. 225410

[edit] Other types

Although the above classifications are well defined, it is rare for a case to fit neatly in a single category, and cross-over symptoms lead to under-diagnosis or mis-diagnosis. So patients should not rely on the “fact” of having a certain type of EDS if cross-over symptoms are evident and might be life-threatening.

“The large number of distinct types of the Ehlers?Danlos syndrome that have already been identified indicates great heterogeneity, but clearly that heterogeneity is not exhausted by the present classification.” [1] Forms of EDS within this category may present with soft, mildly stretchable skin, shortened bones, chronic diarrhea, joint hypermobility and dislocation, bladder rupture, or poor wound healing. Inheritance patterns within this group include X-linked recessive, autosomal dominant, and autosomal recessive. Examples of types of related syndromes other than those above reported in the medical literature include:

• 305200 ? Type 5
• 130080 ? Type 8 – unspecified gene, locus 12p13
• 225310 ? Type 10 – unspecified gene, locus 2q34
• 608763 ? Beasley-Cohen type
• 130070 ? Progeroid form – B4GALT7
• 606408 ? Due to Tenascin-X deficiency – TNXB
• 130090 ? Type unspecified

[edit] Signs and symptoms

 
Individual with EDS displaying hypermobile joints.
 

Individual with EDS displaying skin hyperelasticity

Signs vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of collagen. EDS most typically affects the joints, skin, and blood vessels, the major signs and symptoms include:

• Loose, unstable joints that are prone to: sprain, dislocation, subluxation (partial dislocation) and hyperextension (double jointedness) ^[5]
• Early onset of osteoarthritis
• Easy bruising
• Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse) ^[6]
• Chronic fatigue
• Flat feet
• High and narrow palate, resulting in dental crowding
• Vulnerability to chest and sinus infections
• Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
• Velvety-smooth skin which may be stretchy, is often translucent, and can contribute to underestimations of chronological age
• Abnormal wound healing and scar formation
• Low muscle tone and muscle weakness
• Myalgia and arthralgia^[7]

Other, less common signs and complications may include:

• Headaches caused by an acquired Arnold-Chiari malformation (brain disorder)^[8]
• Osteopenia (low bone density)
• Talipes equinovarus (club foot), especially in the Vascular type
• Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility^[9]
• Functional bowel disorders (functional gastritis, irritable bowel syndrome)
• Gastroparesis
• Dental issues, including early-onset periodontitis
• Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy) ^[10]
• Vascular skin conditions: Raynaud’s phenomenon, Livedo reticularis
• Blue sclera
• Swan neck deformity of the fingers ^[11]
• Insensitivity to local anesthetics.^[12]
• Premature rupture of membranes during pregnancy ^[13]
• Platelet aggregation failure (platelets do not clump together properly) ^[14]
• Weak muscle tone (hypotonia) in infancy, which can delay the development of motor skills such as sitting, standing, and walking
• Arterial/intestinal/uterine fragility or rupture

 
Because it is often undiagnosed or misdiagnosed in childhood, some instances of Ehlers?Danlos syndrome have been mischaracterized as child abuse.

[edit] Genetics

Mutations in the following can cause Ehlers?Danlos syndrome:

• Fibrous proteins: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB
• Enzymes: ADAMTS2, PLOD1

Mutations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue throughout the body. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder.

Inheritance patterns depend on the type of Ehlers?Danlos syndrome. Most forms of the condition are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause the disorder. The minority are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by the condition. It can also be an individual (de novo or “sporadic”) mutation. Please refer to the summary for each type of Ehlers?Danlos syndrome for a discussion of its inheritance pattern.

[edit] Diagnosis

A diagnosis can be made by clinical observation. Both DNA and biochemical studies can be used to help identify affected individuals. In some cases, a skin biopsy has been found to be useful in confirming a diagnosis. Unfortunately, these tests are not sensitive enough to identify all individuals with EDS. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.

[edit] Differential diagnosis

[edit] Management

There is no cure for Ehlers Danlos Syndrome. The treatment is supportive. Close monitoring of the cardiovascular system, physical therapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing) may be helpful. One should avoid activities that cause the joint to lock or overextend.

A physician may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time. Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C).

[edit] Prognosis

The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. Some individuals have negligible symptoms while others are severely restricted in their daily life. Extreme joint instability, pain, and spinal deformities may limit a person’s mobility. Most individuals will have a normal lifespan. However, those with blood vessel involvement have an increased risk of fatal complications.

EDS is a lifelong condition. Affected individuals may face social obstacles related to their disease on a daily basis. Some people with EDS have reported living with fears of significant and painful ruptures, their condition worsening, becoming unemployed due to physical and emotional burdens, and social stigmatization in general.

[edit] Epidemiology

Ehlers?Danlos syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. Initially, prevalence estimates ranged from 1 in 250,000 to 1 in 500,000 people, but these estimates were soon found to be vastly inaccurate as the disorder received further study and medical professionals became more adept at accurately diagnosing EDS. In fact, many experts now believe that Ehlers?Danlos syndrome may be far more common than the currently accepted estimate due to the wide range of severities in which the disorder presents.^[18] However, the prevalence of the six types differs dramatically. The most commonly occurring type is the hypermobility type, followed by the classical type. The other types of Ehlers?Danlos syndrome are very rare. For example, fewer than 10 infants and children with the dermatosparaxis type have been described worldwide. Ehlers?Danlos affects both males and females of all racial and ethnic backgrounds, although some types are more common among certain groups than others.

I would like to be considered for the 12 in 2012 grant program. I have been transitioning now for over eight years. I’ve also been trying to loose weight.
Current weight is 230 right now. However, things are changing and I should be down to about 140 by spring.

Let me know the particulars and what I have to do on this end.

Thank You

Mellanie

Hi Mellanie,

Thank you for your interest in what we do. 

This year we are re-vitalizing our Grant with a slogan similar to one a few years ago (“the first 10 in 2010″), now it is “the first 12 in 2012.”

So far 5 positions have been filled this month.

Call the office and speak with Anne our amiable office manager for details. We re-open on Tuesday, January 3rd.

Be assured I will send you more information and a reprint of a very comprehensive article that was published a few months ago in Seminars in Plastic Surgery.

Happy and Healthy New Year to you and your loved ones,

Harold M. Reed
1111 Kane Concourse, Suite # 311
Bay Harbor Islands, Florida 33154
305-865-2000

Dear Dr. Reed,

I have been on hormones for 8.5 years . My journey is almost complete as I am seeking sexual reassignment surgery to complete my conversion into a female.
Specific_Questions: I want to know how much generally is the cost for total SRS with DR. Reed. How much generally will a patient have to spend for expenses during the trip to Miami for SRS. Also, I have a 5.5 penis when erect; how long deep should i expect my vagina cavity to be?
HEAR: Internet research.  Erin

Decemeber 10, 2011

Good morning Erin,

Thank you for your interest in what we do.  Sounds like you are well on your way.   Our fees are posted on our web-site/  Allow 500 for stents, about 115 for medical supplies such as oral medications, disposable bed protectors, a ring pillow, inexpensive housecoat, 500 plus for motel costs, 120 for food (our hotels have free breakfast spreads).   The rest is travel and ground transportation (shuttle service is more economical than a cab).

Big picture: if you have surgery with us you’ll probably reduce your overall expenses by several thousand dollars in that we own our facility outright.

With scrotal extension which we perform on 80% of our patients (gratis) you can expect a depth of 5 to 6 inches initially and more with dilation.   Keep in mind, true for all MTF patients, despite your stretched penile shaft skin length, you will lose 2 inches just going under the pubic symphysis.  However with the graft you more than recover this.

This December, 2011 we re-opened a Grant program with the slogan “the first 12 cases in 2012″ (was formerly the first 10 in 2010), based upon need of course.

After reading the attached, if you believe I am the doctor for you, please initiate a consultation over the phone with our office by sending us your name, address, and telephone number in an envelope along with a check for 250.  We’ll get started ASAP.  We’ll have a lot to talk about.

The grant should reduce your fees by about 20% from our typically affordable price.  Certain restrictions regarding age and medical history may apply.

Cordially,

Harold M. Reed
1111 Kane Concourse, Suite # 311
Bay Harbor Islands, Florida 33154
305-865-2000

I WAS BORN AS A MALE BUT FROM NY SOUL I WAS FEMALE. MY ATTRACTION AND BIHAVIOUR WAS LIKE FEMALT .I WANT CHANGE MYSELF COMPLETELY .PLEASE HELP ME . YOU CAN CONTACT ME THROUGH A EMAIL.PLEASE HELP…  *(personal data deleted)

Makawee Silverhe…s   Laramie, WY

December 3, 2011

Good morning Makawee,

You are a very special person, a native American Indian with a very  special name.

This December, 2011 we re-opened our Grant program with the slogan “the first 10 cases in 2012″, (had been the first 10 in 2010) based upon need of course.

After reading the attached, if you believe I am the doctor for you, please initiate a consultation over the phone with our office by sending us your name, address, and telephone number in an envelope along with a check for 250.  We’ll get started ASAP.  We’ll have a lot to talk about.

The grant should reduce your fees by about 20% from our typically affordable price.  Certain restrictions regarding age and medical history may apply.

Cordially,

Harold M. Reed
1111 Kane Concourse, Suite # 311
Bay Harbor Islands, Florida 33154
305-865-2000

Thanks for the response. I tried calling you back but I think you were gone already. What do you mean by sponsor? like a person, or an orgonization? For example, I found a site called Jim Collins foundation, they fund raise the money for surgery for transgenders. Or do you mean a sponsor from a boyfriend/girlfriend, relative, ect.

I have thought of going back to school to be an RN, but that would also require me to take out additional loans either way. I have an associates degree but it doesn’t mean much to most companies today. But I think i’ll see if I can go to school for something different than the associate I have, its from a tech school. Either a massage therapist, or nursing.  

Again, thank you for the reply, and yes, if I can afford surgery I have my heart set on your clinic.   June

Good afternoon June,

Try Jim Collins if you wish.   LOL.

Yes, a sponsor like a person, a significant other, lover, parent, friend, relative, business partner, or church group.

Just think this way, parents assume sponsorship responsibilities when they have children, hundreds of thousands of women marry every year and expect, without blinking an eye, their husbands to bring the major portion of revenue into the household.

Or in other words, they are sponsored.

The capacity to help is widely distributed in our society on an individual and group basis.

Anne is waiting for your call and perhaps she can propose some figures that make sense or could make sense if you have some outside help.

Best wishes,

Harold M. Reed, M.D.
305-865-2000

November 30, 2011

Good afternoon Ilana,

Thank you for your interest in what we do.  Yes, we are having a promotional month this November. Kindly call Anne for details.

After reading the attached, if you believe I am the doctor for you, please initiate a consultation over the phone with our office by sending us your name, address, and telephone number
in an envelope along with a check for 250.  We’ll get started ASAP.  We’ll have a lot to talk about.

Cordially,

Harold M. Reed
1111 Kane Concourse, Suite # 311
Bay Harbor Islands, Florida 33154
305-865-2000

only 2 minutes ago I got a similar letter

Yes, I am on hormones, and have been living full time almost 3 years.
Specific_Questions: I have emailed you before with a question, and received an answer. Now I have another question, sorry I ask a lot of questions. I wanted a doctor’s opinion on medical loans. I am a young transgender, early 20s. I have school loans I am paying on, but with a job I only make about 20,000. Since the surgery itself is almost 20,000 after laser removal ect, hormone pills, rent, and paying loans, I know it would take me till I’m like 50 or 60 to save that much. My accountant at my bank suggested a loan. I am wondering if another loan would be worth it. I personally think any hardship is worth the surgery, but my money sense tells me more debt is always a bad choice if avoidable. I guess what I want is a second opinion, I have one from a person who specializes in money, I wanted someone’s opinion who does the surgery, and has probably had patients who’ve chosen loans to pay for their surgeries. Did they think it was well worth the extra debt? I already have a 20,000 school debt, whats another 20,000 for a life change.  Eloise

 and here’s what I wrote…

Dear Eloise,

50% of our patients come in with a sponsor, that is to say, the patient is not paying for the surgery.  Again 50%.

Imagine that.

My answer is also do not borrow another 20,000 during these very hard times with no end in sight.  You will not be able to live with yourself working so thin on a budget, and you will have no
reserve for emergencies or contingencies.

Having a few pennies in your pocket helps to feel good and secure about yourself.  Ultimately if you hone your skills and do a credible job, your income will rise.

RN’s make 65,000 plus a year and transgenderism among nurses is frequently seen in my practice.  All food for thought.

Best wishes for a happy holiday season,

Harold M. Reed, M.D.
305-865-2000

At 01:08 AM 12/1/2011,  Ilana writes back…

Dr. Reed,

I will gladly call anne tomorrow for details. I thank you for making this a personal email and not just a forward. I appreciate that alot…  Ilana

I had read on another site that you sometimes might offer grants to help cover the expenses of things like an Orchiectomy. I’m on 400 mg of spironolactone and I still feel very dissonant inside chemicaly.
I also do not have an endo, or the luxury of having one who knows very much about trans people at all.
I am 26 years old, but to me age is irrelevant when I’m in limbo like this. However, the amount of pain that has built up as a result of dysphoria is unimaginably crippling. I am a novelist. I’m an amateur musician. I have a wide variety of interests. I used to play every single day and really enjoy what I did…

.
But I feel so clogged up right now from the pain of being like this that I cannot be productive right now. What I need is real progress, however anxiety and an autoimmune disorder really amplify it and this pain has taken over my life almost completely. I fight it every single day.

I don’t mean to rant. What exactly do I have to do to meet the requirements of a grant? I want SRS, truthfully, but I might want to wait on it simply because they are experimenting with the cheek cell neovagina that I have been hearing about a lot in the online community.
I desperately need SRS and waiting is going to be torture, but I wanna make sure I’m as happy with the results as I can be. It does not make it any less desperate, and it might turn out that waiting for the better alternative wont help me.
If I could at least make some REAL progress in my transition I think I’d have the fuel I needed to get through this transition mentally stable and at least functioning.

I wanted to know the criteria because I can’t afford this at all. My parents do not have the time to really help out, or the money, and neither do any of my relatives. If the grant covered a good deal of it, I would get an orchi in a heartbeat. That is one thing I am absolutely sure of…

Thank you for your time and for listening to me. The fact that I’m sending this and looking even further into pro bono things or grants means that I haven’t given up hope completely, but I would be lying if I said that it were in adequate supply to live a healthy life; A life which is passing me by because I’m incapable of working,

and I’m incapable of working cause of anxiety and pain caused by the dysphoria. I’m 26 and I know I have potential… The problem is actually feeling like myself in the process. Thanks again for listening.

Sincerely,

Kendra

Good afternoon Kendra,

Thank you for your interest in what we do.  Yes, we are having a promotional month this November. Kindly call Anne for details.

Your dose of Spironolactone 400 mg a day is way too high.  Please seek out an endocrinologist at your county welfare care center.

Lastly please keep in mind 50% of our patients come in with a sponsor.

For example yesterday we did a lady from Arkansas, full MTF vaginoplasty, and there was a real nice gent who wrote out the checks and is with her now.

Cordially,

Harold M. Reed
1111 Kane Concourse, Suite # 311
Bay Harbor Islands, Florida 33154
305-865-2000

I am 22 years old from Bulgaria live as a girl of 13 years my dream is to change their gender has no day in which I have not asked it to sluchi.Za now it seems to me impossible, my country is very poor here normal salary people is $ 200 a month ? I am writing this letter in hopes someone with a good heart to read it and help me if so my dream to come true my life will become meaningful and will be the happiest man in the world if someone can help my facebook: Aleks Simeonova
my mail is alekssmqna@abv.bg

October 9, 2011

Hi Aleks,

There are many excellent doctors in Serbia and also Thailand who are quite economical.  In addtion, your travel expenses will be a lot less.  Please consider them as well.

Cordially,

Harold M. Reed, M.D.

Dr.Reed.
I am MTF, i ahve been in transition for 3 years now. For work and safty i have been unable to dress as female full time, but still wear what i can when not fully cross gender dressed.
I am interested in full SRS,FFS,Breast augmentation,trac shave, hair transplant,etc.
Are their grants or loans available to help in paying for these proceedures?.Thank you Amanda.

Hi Amanda,

While I can understand perhaps why you not be able to dress 100% en femme now, will you be doing this after surgery, and if so why would it be possible then?

Yes, I would love to help make your dreams come true.  Please call Anne at the office on Tuesday.  Anne is the maker of deals and the brains behind pa.

You will need 2 letters of therapy clearance before surgery.

Best wishes,

Harold M. Reed, M.D.
305-865-2000

I was curious about the Orchiectomy procedure you offer.
I am interested in having my 1 testicle removed. (I only have 1 remaining)
Dr. Marcia Schultz in Coral Springs recommend I ask about your pricing being that If I were to have this done it would not be a Bilateral procedure in my case.
I do see that your fee on your site indicates $2,500.00 but would it be lower only having to remove 1, instead of 2 testicles?

Kylie

March 23, 2011

Good morning Kylie,

Thank you for your interest in what we do and thank Dr. Marcia
Schultz for the referral. You would be the ideal candidate
for a professional courtesy discount. Please confer with Anne,
our amiable office manager and I hope she will bring a smile
to your face.

After reading the attached, if you believe I am the doctor
for you, please initiate a consultation over the phone with our office
by sending us your name, address, and telephone number
in an envelope along with a check for 250. We’ll
get started ASAP. We’ll have a lot to talk about.

This April, we are having a promotional offer for those patients
staying at the Baltic Hotel (advanced tourist class, 877-622-5842).
When making reservations ask for Christina and mention my name.

Cordially,

Harold M. Reed
1111 Kane Concourse, Suite # 311
Bay Harbor Islands, Florida 33154
305-865-2000