Ehlers-Danlos syndrome - AbsoluteAstronomy.com

Ehlers–Danlos syndrome (also known as "Cutis hyperelastica") is a group of inherited

Heredity

Heredity is the passing of traits to offspring . This is the process by which an offspring cell or organism acquires or becomes predisposed to the characteristics of its parent cell or organism. Through heredity, variations exhibited by individuals can accumulate and cause some species to evolve...

connective tissue

Connective tissue

"Connective tissue" is a fibrous tissue. It is one of the four traditional classes of tissues . Connective Tissue is found throughout the body.In fact the whole framework of the skeleton and the different specialized connective tissues from the crown of the head to the toes determine the form of...

disorders, caused by a defect in the synthesis of collagen

Collagen

Collagen is a group of naturally occurring proteins found in animals, especially in the flesh and connective tissues of mammals. It is the main component of connective tissue, and is the most abundant protein in mammals, making up about 25% to 35% of the whole-body protein content...

(Type I or III). The collagen in connective tissue helps tissues to resist deformation. In the skin, muscles, ligaments, blood vessels and visceral organs, collagen plays a very significant role and with increased elasticity, secondary to abnormal collagen, pathology results. Depending on the individual mutation

Mutation

In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...

, the severity of the syndrome can vary from mild to life-threatening. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Corrective surgery may help with the frequent injuries that may develop in certain types of EDS, although the condition means that extra caution is advised and special practices observed.

The syndrome is named after two doctors, Edvard Ehlers

Edvard Ehlers

Edvard Laurits Ehlers was a Danish dermatologist whose name was given to a group of genetic misfunctions of connective tissue, the so-called Ehlers–Danlos syndrome ....

of Denmark

Denmark

Denmark is a Scandinavian country in Northern Europe. The countries of Denmark and Greenland, as well as the Faroe Islands, constitute the Kingdom of Denmark . It is the southernmost of the Nordic countries, southwest of Sweden and south of Norway, and bordered to the south by Germany. Denmark...

, and Henri-Alexandre Danlos

Henri-Alexandre Danlos

Henri-Alexandre Danlos was a French physician and dermatologist born in Paris. With Danish dermatologist Edvard Ehlers , the Ehlers–Danlos syndrome is named, which is a group of inherited connective tissue disorders.He studied medicine in Paris, and during the early part of his career performed...

of France

France

The French Republic , The French Republic , The French Republic , (commonly known as France , is a unitary semi-presidential republic in Western Europe with several overseas territories and islands located on other continents and in the Indian, Pacific, and Atlantic oceans. Metropolitan France...

, who identified it at the turn of the 20th century.

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. 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 mutation

Mutation

s involved have been identified and they can be precisely identified by genetic testing

Genetic testing

Genetic testing is among the newest and most sophisticated of techniques used to test for genetic disorders which involves direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic...

; 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

Prevalence

In epidemiology, the prevalence of a health-related state in a statistical population is defined as the total number of cases of the risk factor in the population at a given time, or the total number of cases in the population, divided by the number of individuals in the population...

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.		>- \| 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 Type-V collagen Type-V collagen is a form of fibrillar collagen associated with classical Ehlers-Danlos syndrome.... , as well as type I. Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement.	,	>- \| Vascular	type 4	Is an autosomal dominant defect in the type-III collagen Type-III collagen Collagen alpha-1 chain is a protein that in humans is encoded by the COL3A1 gene, which is located on chromosome 2.- Function :Collagen alpha-1 chain is a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with... 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.		>- \| Kyphoscoliosis	type 6	Is an autosomal recessive defect due to deficiency of an enzyme Enzyme Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates... called lysyl hydroxylase Lysyl hydroxylase Lysyl hydroxylase is an oxygenase enzyme that catalyzes the hydroxylation of lysine to hydroxylysine. This reaction is necessary to the formation and stabilization of collagen. It takes place following protein synthesis... ; 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.	,	>- \| Arthrochalasis	types 7A & B	Is also very rare, with about 30 cases reported. It affects type-I collagen Type-I collagen Type-I collagen is the most abundant collagen of the human body.It is present in scar tissue, the end product when tissue heals by repair.It is found in tendons, the endomysium of myofibrils and the organic part of bone.- See also :* Collagen... . The arthrochalasia type is characterised by very loose joints and dislocations involving both hips.		>- \| Dermatosparaxis	type 7C	Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin.

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." http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130090 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: – Type 5 – Type 8 - unspecified gene, locus 12p13 – Type 10 - unspecified gene, locus 2q34 – Beasley-Cohen type – Progeroid form - – Due to Tenascin-X deficiency - – Type unspecified

Signs and symptoms

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
Sprain
A sprain is an injury in a joint, caused by the ligament being stretched beyond its capacity. A muscular tear caused in the same manner is referred to as a strain. In cases where either ligament or muscle tissue is torn, immobilization and surgical repair may be necessary...

, dislocation
Dislocation
In materials science, a dislocation is a crystallographic defect, or irregularity, within a crystal structure. The presence of dislocations strongly influences many of the properties of materials...

, subluxation
Subluxation
A subluxation may have different meanings, depending on the medical specialty involved. It implies the presence of an incomplete or partial dislocation of a joint or organ. The World Health Organization defines both the medical subluxation and the chiropractic subluxation...

(partial dislocation) and hyperextension (double jointedness)
Early onset of osteoarthritis
Osteoarthritis
Osteoarthritis also known as degenerative arthritis or degenerative joint disease, is a group of mechanical abnormalities involving degradation of joints, including articular cartilage and subchondral bone. Symptoms may include joint pain, tenderness, stiffness, locking, and sometimes an effusion...
Easy bruising
Dysautonomia
Dysautonomia
Dysautonomia is a broad term that describes any disease or malfunction of the autonomic nervous system. This includes postural orthostatic tachycardia syndrome , inappropriate sinus tachycardia , vasovagal syncope, mitral valve prolapse dysautonomia, pure autonomic failure, neurocardiogenic...

typically accompanied by Valvular heart disease
Valvular heart disease
Valvular heart disease is any disease process involving one or more of the valves of the heart . Valve problems may be congenital or acquired...

(such as mitral valve prolapse
Mitral valve prolapse
Mitral valve prolapse is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. There are various types of MVP, broadly classified as classic and nonclassic. In its nonclassic form, MVP carries a low risk of...

, which creates an increased risk for infective endocarditis
Endocarditis
Endocarditis is an inflammation of the inner layer of the heart, the endocardium. It usually involves the heart valves . Other structures that may be involved include the interventricular septum, the chordae tendineae, the mural endocardium, or even on intracardiac devices...

during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse)
Chronic fatigue
Flat feet
Flat feet
Flat feet is a formal reference to a medical condition in which the arch of the foot collapses, with the entire sole of the foot coming into complete or near-complete contact with the ground...
High and narrow palate
Palate
The palate is the roof of the mouth in humans and other mammals. It separates the oral cavity from the nasal cavity. A similar structure is found in crocodilians, but, in most other tetrapods, the oral and nasal cavities are not truly separate. The palate is divided into two parts, the anterior...

, resulting in dental crowding
Vulnerability to chest and sinus infections
Fragile blood vessels resulting from cystic medial necrosis
Cystic medial necrosis
Familial thoracic aortic aneurysm is an autosomal dominant disorder of large arteries....

with tendency towards aneurysm
Aneurysm
An aneurysm or aneurism is a localized, blood-filled balloon-like bulge in the wall of a blood vessel. Aneurysms can commonly occur in arteries at the base of the brain and an aortic aneurysm occurs in the main artery carrying blood from the left ventricle of the heart...

(even abdominal aortic aneurysm
Abdominal aortic aneurysm
Abdominal aortic aneurysm is a localized dilatation of the abdominal aorta exceeding the normal diameter by more than 50 percent, and is the most common form of 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
Muscle weakness
Muscle weakness or myasthenia is a lack of muscle strength. The causes are many and can be divided into conditions that have true or perceived muscle weakness...
Migraines and headaches, including postural headaches from spontaneous intracranial hypotension
Myalgia
Myalgia
Myalgia means "muscle pain" and is a symptom of many diseases and disorders. The most common causes are the overuse or over-stretching of a muscle or group of muscles. Myalgia without a traumatic history is often due to viral infections...

and arthralgia
Arthralgia
Arthralgia literally means joint pain; it is a symptom of injury, infection, illnesses or an allergic reaction to medication....

Other, less common signs and complications may include:

Osteopenia
Osteopenia
Osteopenia is a condition where bone mineral density is lower than normal. It is considered by many doctors to be a precursor to osteoporosis. However, not every person diagnosed with osteopenia will develop osteoporosis...

(low bone density)
Talipes equinovarus (club foot
Club foot
A club foot, or congenital talipes equinovarus , is a congenital deformity involving one foot or both. The affected foot appears rotated internally at the ankle. TEV is classified into 2 groups: Postural TEV or Structural TEV....

), especially in the Vascular type
Deformities of the spine, such as: Scoliosis
Scoliosis
Scoliosis is a medical condition in which a person's spine is curved from side to side. Although it is a complex three-dimensional deformity, on an X-ray, viewed from the rear, the spine of an individual with scoliosis may look more like an "S" or a "C" than a straight line...

(curvature of the spine), Kyphosis
Kyphosis
Kyphosis , also called roundback or Kelso's hunchback, is a condition of over-curvature of the thoracic vertebrae...

(a thoracic hump), Tethered spinal cord syndrome
Tethered spinal cord syndrome
Tethered spinal cord syndrome or occult spinal dysraphism sequence refers to a group of neurological disorders related to malformations of the spinal cord. The various forms include: tight filum terminale, lipomeningomyelocele, split cord malformations, dermal sinus tracts, dermoids, and cystoceles...

, Occipitoatlantoaxial hypermobility
Arnold-Chiari malformation
Arnold-Chiari malformation
Arnold–Chiari malformation, or often simply Chiari malformation, is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen magnum , sometimes causing non-communicating hydrocephalus as a result of obstruction of cerebrospinal fluid outflow...

(brain disorder)
Functional bowel disorders (functional gastritis
Gastritis
Gastritis is an inflammation of the lining of the stomach, and has many possible causes. The main acute causes are excessive alcohol consumption or prolonged use of nonsteroidal anti-inflammatory drugs such as aspirin or ibuprofen. Sometimes gastritis develops after major surgery, traumatic...

, irritable bowel syndrome
Irritable bowel syndrome
Irritable bowel syndrome is a diagnosis of exclusion. It is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. In some cases, the symptoms are relieved by bowel movements...

)
Gastroparesis
Gastroparesis
Gastroparesis, also called delayed gastric emptying, is a medical condition consisting of a paresis of the stomach, resulting in food remaining in the stomach for a longer period of time than normal. Normally, the stomach contracts to move food down into the small intestine for digestion. The...
Dental issues, including early-onset periodontitis
Nerve compression disorders (carpal tunnel syndrome
Carpal tunnel syndrome
Carpal Tunnel Syndrome is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel. The pathophysiology is not completely understood but can be considered compression...

, acroparesthesia, neuropathy)
Vascular skin conditions: Raynaud's phenomenon
Raynaud's phenomenon
In medicine, Raynaud's phenomenon is a vasospastic disorder causing discoloration of the fingers, toes, and occasionally other areas. This condition can also cause nails to become brittle with longitudinal ridges. Named for French physician Maurice Raynaud , the phenomenon is believed to be the...

, Livedo reticularis
Blue sclera
Swan neck deformity
Swan neck deformity
Swan neck deformity is a deformed position of the finger, in which the joint closest to the fingertip is permanently bent toward the palm while the nearest joint to the palm is bent away from it...

of the fingers
Insensitivity to local anesthetics.
Premature rupture of membranes during pregnancy
Platelet aggregation failure (platelets do not clump together properly)
Weak muscle tone (hypotonia
Hypotonia
Hypotonia is a state of low muscle tone , often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength...

) 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. The pain associated with this condition is a serious complication.

Genetics

Mutation

s in the following can cause Ehlers–Danlos syndrome:

Fibrous protein
Fibrous protein
Scleroproteins, or fibrous proteins, constitute one of the three main classes of proteins, alongside globular proteins and conjugated proteins.Keratin, collagen, elastin, and fibroin are all scleroproteins...

s: COL1A1
COL1A1
Collagen, type I, alpha 1, also known as COL1A1, is a human gene that encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including cartilage....

, COL1A2
COL1A2
Collagen alpha-2 chain is a protein that in humans is encoded by the COL1A2 gene.-External links:* -Further reading:...

, COL3A1, COL5A1
COL5A1
Collagen alpha-1 chain is a protein that in humans is encoded by the COL5A1 gene.-External links:*...

, COL5A2
COL5A2
Collagen alpha-2 chain is a protein that in humans is encoded by the COL5A2 gene.-External links:*...

, and TNXB
Enzyme
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

s: ADAMTS2
ADAMTS2
A disintegrin and metalloproteinase with thrombospondin motifs 2 also known as procollagen I N-proteinase is an enzyme that in humans is encoded by the ADAMTS2 gene.- Gene :...

, PLOD1

Mutations in these genes usually alter the structure, production, or processing of collagen

Collagen

or protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

s 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

Mutation

. Please refer to the summary for each type of Ehlers–Danlos syndrome for a discussion of its inheritance pattern.

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.

Differential diagnosis

There are several disorders that have some of the characteristics of Ehlers–Danlos syndrome. For example, in cutis laxa

Cutis laxa

Cutis laxa is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.-Causes:In most cases, cutis laxa is inherited...

the skin is loose, hanging, and wrinkled. In EDS, the skin can be pulled away from the body but is elastic and returns to normal when let go. In Marfan syndrome

Marfan syndrome

Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....

, the joints are very mobile and similar cardiovascular complications occur. In the past, Menkes disease

Menkes disease

Menkes disease , also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder that affects copper levels in the body, leading to copper deficiency...

, a copper metabolism disorder, was thought to be a form of Ehlers–Danlos syndrome. Because of these similar disorders, a correct diagnosis is very important.

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).

In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and certain other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary.

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.

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. 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.

Society and culture

Several celebrities have EDS:
- A man with EDS who has the stretchiest skin in the world appears in an episode entitled Rubber Band Man in the show "Stan Lee's Superhumans
  Stan Lee's Superhumans
  Stan Lee's Superhumans is a documentary television series that debuted August 5, 2010 on History. It is hosted by comic book superhero creator Stan Lee and follows contortionist Daniel Browning Smith, "the most flexible man in the world", as he searches the globe for real-life superhumans – people...
  
  ".
- Actress Cherylee Houston
  Cherylee Houston
  Cherylee Houston is a British actress. She grew up in Morecambe, Lancashire, in the United Kingdom. She is best known for her role as Izzy Armstrong, friend of Kirk Sutherland in Coronation Street.-Early life:...
  
  has type 3 EDS and uses a wheelchair; she made history by becoming Coronation Street
  Coronation Street
  Coronation Street is a British soap opera set in Weatherfield, a fictional town in Greater Manchester based on Salford. Created by Tony Warren, Coronation Street was first broadcast on 9 December 1960...
  
  s first full-time disabled actress.
- The condition may have contributed to the virtuoso violinist Niccolò Paganini
  Niccolò Paganini
  Niccolò Paganini was an Italian violinist, violist, guitarist, and composer. He was one of the most celebrated violin virtuosi of his time, and left his mark as one of the pillars of modern violin technique...
  
  's skill as he was able to play wider fingerings than the normal violinist.
- Eric the Midget
  Eric the Midget
  Eric Lynch , better known as Eric the Midget or Eric the Bedhumper, is known solely as a fan of The Howard Stern Show. He is considered a part of the Wack Pack, though membership is unofficial. Lynch is tall, weighs , and uses a motorized wheelchair, in addition to various other afflictions...
  
  , of the Howard Stern show has a rare form of Ehlers-Danlos syndrome.
- Pianist Evan Petrone's video "Backwards Piano" went viral and gained much popularity after it was released that he suffers from Ehlers Danlos Syndrome Type 3.
Musician Noah Baerman
Noah Baerman
Noah Baerman is jazz pianist who began studying piano at age eight. He studied at the ACES Educational Center for the Arts in New Haven and Jackie McLean’s Artists Collective, Inc. in Hartford. He earned his bachelor's and Master's degrees in jazz studies from the Mason Gross School of the Arts...

has been a long-time supporter of EDS research, selling his first CD, Patch Kit, to benefit the Ehlers–Danlos National Foundation.
The condition is mentioned in the song "Dorsal Horn Concerto" by the British comedy band the Amateur Transplants.
The condition has been mentioned in many television shows, including:
- CSI New York
  CSI: NY
  CSI: NY is an American police procedural television series that premiered on September 22, 2004, on CBS. The show follows the investigations of a team of NYPD forensic scientists and police officers as they unveil the circumstances behind mysterious and unusual deaths as well as other crimes...
  
  in the first season episode, "Blood, Sweat and Tears."
- FOX series Bones
  Bones (TV series)
  Bones is an American crime drama television series that premiered on the Fox Network on September 13, 2005. The show is based on forensic anthropology and forensic archaeology, with each episode focusing on an FBI case file concerning the mystery behind human remains brought by FBI Special Agent...
  
  in the season 4 episode "The Perfect Pieces in the Purple Pond."
- House
  House (TV series)
  House is an American television medical drama that debuted on the Fox network on November 16, 2004. The show's central character is Dr. Gregory House , an unconventional and misanthropic medical genius who heads a team of diagnosticians at the fictional Princeton-Plainsboro Teaching Hospital in...
  
  in the episodes "House's Head
  House's Head
  "House's Head" is the fifteenth episode of the fourth season of House and the eighty-fifth episode overall. It was the first part of the two-part season four finale, the second part being "Wilson's Heart". Co-written by several House producers and directed by Greg Yaitanes, "House's Head" premiered...
  
  " (Season 4, Episode 15) and "The Dig (House)
  The Dig (House)
  "The Dig" is the eighteenth episode of the seventh season of the American medical drama House. It first aired on April 11, 2011. This is the 150th episode of the series. Wilson and Cuddy, interestingly, do not appear in this episode.-Plot:...
  
  " (Season 7, Episode 18).
- The Law & Order
  Law & Order
  Law & Order is an American police procedural and legal drama television series, created by Dick Wolf and part of the Law & Order franchise. It aired on NBC, and in syndication on various cable networks. Law & Order premiered on September 13, 1990, and completed its 20th and final season on May 24,...
  
  episode "Dignity" (Season 20, Episode 5). In the episode, a third-trimester fetus is diagnosed with the condition and is slated for abortion; shortly later, the doctor who is due to perform the abortion is murdered in church.
- The subject of the Season 7 premiere of the A&E series Intervention
  Intervention (TV series)
  Intervention is an American television program about the realities facing addicts of many kinds.Each program follows one or two participants, each of whom has an addiction or other mentally and/or physically damaging problem and believes that they are being filmed for a documentary on their problem...
  
  , Linda, claims to have EDS.

In other animals

Ehlers–Danlos-like syndromes have been shown to be hereditary in Himalayan cats

Himalayan (cat)

The Himalayan cat is a breed of long-haired cat identical in type to the Persian, with the exception of its blue eyes and its point coloration, which were derived from the crossing of the Persian with the Siamese...

, some domestic shorthair cats, and in certain breeds of cattle. It is seen as a sporadic condition in domestic dogs.

DSLD: Degenerative Suspensory Ligament Desmitis is a similar condition now being researched in all breeds of horses. Though it was originally notated in the Peruvian Paso

Peruvian Paso

The Peruvian Paso or Peruvian Horse is a breed of light pleasure saddle horse known for its smooth ride. It is distinguished by a natural, four-beat, lateral gait called the paso llano.-History:...

and thought to be a condition of overwork and older age, the disease is being recognized in all age groups and all activity levels. It has even been noted in newborn foals. The latest research has led to the renaming of the disease after the possible systemic and hereditary components now being delineated by the University of Georgia. Equine Systemic Proteoglycan Accumulation.

External links

Ehlers-Danlos Syndrome, Classic Type. Includes: Ehlers-Danlos Syndrome Type I, Ehlers-Danlos Syndrome Type II
University of Washington Medicine Multi-page explanation of EDS, including symptoms, genetics, diagnosis, and treatment
National Institute of Health on Hypermobility EDS
GeneReviews/NCBI/NIH/UW entry on Ehlers-Danlos Syndrome Type IV
Joint & Bone - Ehlers-Danlos/Joint Hypermobility Syndrome - Proprioception
Ehlers–Danlos National Foundation

The source of this article is wikipedia, the free encyclopedia. The text of this article is licensed under the GFDL.

Classification

Other types

Signs and symptoms

Genetics

Diagnosis

Differential diagnosis

Management

Prognosis

Epidemiology

Society and culture

In other animals

See also

External links