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B Y S I M O N M A R K D A L E Y ( 2 0 1 9 )
Hypermobile Ehlers-Danlos
syndrome (hEDS)
& hypermobility spectrum disorders (HSD).
A presentation.
INTRODUCTION.
Hypermobile Ehlers-Danlos syndrome (hEDS) is thought to be the most common genetic
connective tissue disorder, but is commonly misdiagnosed (as are all HSD).
Prevalence is unclear with a dearth of up-to-date research, however it's estimated that hEDS
affects 1 in 5,000 people globally (0.02% of population). Comparative prevalence; familial
hyperlipidaemia; 1 in 500, cystic fibrosis; 1 in 1250. Huntington's disease; 1 in 15,000. 
hEDS & HDS may be inherited, or may occur as a new mutation - either way they usually cause
the body's collagen to be fragile and stretchy. As a result, typical features include increased skin
elasticity and/or increased joint mobility.
As collagen is present throughout the body, people with hEDS & HDSs experience a broad range
of symptoms. These are complex syndromes affecting many systems of the body at once.
Symptoms and severity vary considerably from person to person.
INTRODUCTION.
Recent changes have been made to the way that hEDS is diagnosed. There is no genetic test for
this type, so diagnosis involves looking for joint hypermobility, signs of faulty connective tissue
throughout the body (hernias, prolapses, skin features), a family history and musculo-skeletal
problems (long-term pain, dislocations).
There are many associated symptoms and disorders which don't form part of the formal criteria,
and which do not directly result from joint hypermobility, for example; orthostatic tachycardia,
digestive disorders, pelvic and bladder dysfunction and anxiety disorders. These are often more
detrimental to quality of life than the joint symptoms.
Joint hypermobility with its possible complications is now classified using the idea of a
spectrum (next slide). At one end is simple hypermobility with no symptoms - is not a disease
and is a trait, like height. At the other end of the spectrum is hEDS and in between falls a range
of hypermobility-related conditions called hypermobility spectrum disorders (HSD).
HSD are likely to be common. Someone with HSD can be just
as symptomatic - more so even - than someone with hEDS.
Management advice for both hEDS and HSD is the same.
THE 'HYPERMOBILITY SPECTRUM'.
CLASSIFICATIONS.
Since 2017, 13 EDS types are recognised - most of which are very rare. The gene
mutations causing the conditions have been identified and can be tested for in all
types, except the most common - hypermobile EDS.
Hypermobile (hEDS) - most common.
The rest are extremely rare;
Kyphoscoliotic (kEDS).
Arthrochalasia (aEDS).
Dermatosparaxis (dEDS).
Brittle cornea syndrome (BCS).
Myopathic (mEDS).
Periodontal (pEDS).
Cardiac-valvular (cvEDS).
Classical (cEDS) - rare.
Vascular (vEDS) - rare.
Classical-like (clEDS).
Spondylodysplastic (spEDS).
Musculocotractual (mcEDS).
HYPERMOBILE EDS
There are at least 57 associated features of hEDS.
80-99% of individuals will have the following;
Acrocyanosis (persistent blue colour of hands, feet
or parts of face).
Arthralgia (joint pain).
Elbow dislocation.
Fatigue.
Hip dislocation.
Hyperextensible/hyperelastic skin.
Joint hyperflexibility.
Myalgia (muscle ache).
Sleep disturbance.
Vertigo.
Wormian bones (extra bones with cranial sutures).
(hEDS).
30-79% will have the following;
Arrhythmia
Constipation.
Decreased nerve conduction velocity.
Depression.
Malabsorption.
Migraine.
Nausea and vomiting.
Osteoarthritis.
Pes planus (flat feet).
Soft skin.
Thin skin.
5-29% will have the following;
Abnormal palate morphology.
Abnormal menstrual cycle.
Abnormality of the wrist.
Anorectal anomaly.
Aplasia/hypoplasia of the abdominal wall musculature.
Apnoea.
Arterial dissection.
Ascending tubular aorta aneurysm.
Atypical scarring of skin.
Cystocele (bladder hernia).
Decreased fertility.
Epicanthus (eye folds).
Gastro-oesophageal reflux.
Gastrointestinal dysmotility.
Gingival overgrowth.
Gingivitis.
Inguinal hernia.
Gingival overgrowth.
Gingivitis.
Inguinal hernia.
Keratoconjunctivitis sicca (dry eyes).
Keratoconus (bulging cornea).
Limitation of joint mobility.
Microdontia (decreased tooth width).
Osteolysis.
Paresthesia.
Ptosis (drooping upper eyelid).
Scoliosis.
Subcutaneous nodules.
Tendon rupture.
Umbilical hernia.
Venous insufficiency.
It is not known what percentage of individuals suffer with the following;
Joint dislocation.
Joint hypermobility.
Joint laxity.
Mitral valve prolapse.
Striase distensae (stetch marks).
HYPERMOBILE EDS
The diagnosis of hypermobile EDS (hEDS) remains clinical; there is no
molecular or genetic cause yet identified, so there is no test available.
There is a clinical spectrum ranging from asymptomatic joint hypermobility,
through "non-syndromic" hypermobility with secondary manifestations, to
hEDS.
A diagnosis of hEDS should be assigned only in those who meet all of the
criteria, which should help research efforts to identify the underlying
genetic cause(s), which in turn may help clinical management.
As this is a clinical diagnosis, it is important to be relatively confident that
the diagnosis is not instead one of the many other disorders of connective
tissue, for example; Marfan Syndrome, Osteogenesis imperfecta, Sjogren's
syndrome and many others.
The international diagnostic criteria for hEDS is shown on the right.
(hEDS).
VASCULAR EDS (vEDS).
Generally considered to be the most severe form of EDS. Long-term prognosis is
generally poor and is associated with reduced life expectancy.
Estimated to affect between 1 in 50,000 and 1 in 200,000.
Amongst those diagnosed as the result of a complication, 25% have a significant
medical complication by age 20 and >80% by age 40. Median life span is 48 years.
Some people are diagnosed on the basis of subtle signs in their physical appearance
together with medical history;
Fragile tissues (including arteries, muscles and internal organs) prone to rupture.
Thin, translucent skin.
Characteristic facial appearance (thin lips, small chin, thin nose, large eyes).
Acrogeria (premature aging of hands and feet).
Hypermobility of small joints.
Early onset varicose veins.
Pneumothorax.
Easy bruising.
Joint dislocations and subluxations.
Congenital dislocation of the hips.
Congenital clubfoot.
Receding gums.
VASCULAR EDS (vEDS).
Diagnosis of vEDS is often made by a genetic test. Sometimes a skin biopsy is
required for confirmation.
Individuals may not experience any significant problems until later in life. Others
will have had signs of vEDS from a young age.
Day to day, many individuals with vEDS are physically fit and well, however there
is a risk of problems due to fragile blood vessels and hollow organs which could
rupture. These are unpredictable and usually result in emergency situations. As a
result it is important to discern if a patient has this diagnosis to aid in timely
management.
Activities that increase risk;
Strenuous contact sports.
Sprinting / activities involving sudden acceleration.
Tasks involving pushing or lifting heavy objects.
Competitive exercise performed to the point of exhaustion.
Playing a brass instrument causes an increase in pressure in the lungs.
Activities to be encouraged include regular aerobic exercise performed in
moderation, with examples as follows; Swimming, cycling, walking, hiking, jogging.
VASCULAR EDS (vEDS).
All patients with vEDS are encouraged to be seen annually in a specialist cardiac
clinic. This ensures access to up to date evidence-based care.
Management priorities include control of blood pressure, and scans to exclude
development of any aneurysms.
General advice is to avoid surgery where possible. Fragility of tissues and blood
vessels significantly increases risk of serious complications.
Pregnancy puts the cardiovascular system under extreme pressure in all individuals
and there are additional risks for women with vascular EDS in pregnancy. It is
important that this is communicated early in the pregnancy. A planned caesarean
delivery in a hospital with specialist vascular surgery may be suggested.
Major diagnostic criteria;
Family history of vEDS with documented causative variant in COL3A1;
Arterial rupture at a young age;
Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology;
Uterine rupture during the 3rd trimester in the absence of previous C-section or severe peri-partum tears;
Carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma.
1.
2.
3.
4.
5.
There are 12 minor criteria -
Minimal clinical standards suggesting vEDS are a family history of the disorder, arterial rupture or dissection in
individuals less than 40 years old, unexplained sigmoid colon rupture, or spontaneous pneumothorax in the presence of
other features consistent with vEDS. Testing for vEDS should also be considered in the presence of a combination of the
other minor criteria. Final diagnosis is made by molecular testing.
CLASSICAL EDS (cEDS).
Classical EDS (cEDS) is characterised by joint hypermobility, very stretchy and
fragile skin which leads to significant bruising and widened, sunken (atrophic)
scars.
As with vEDS, it is often possible to make a diagnosis of cEDS from physical
examination and medical history. Clinical features to look for include;
Fragile skin prone to splitting with minimal trauma. This leads to significant
scarring usually starting in childhood. Common sites are knees, elbows, shins,
forehead and chin. Scars tend to be wide with a thin appearance often described
as "like tissue paper" (surgical scars tend to heal normally).
Stretchy skin, often very stretchy!
Joint hypermobility , which may cause them to slip out of position resulting in
dislocations or subluxations and may be associated with chronic joint pain.
Easy bruising, which may lead to permanent discolouration and is often visible
on the shins.
Fragile and extensible tissues can also result in hernias, prolapse and cervical
insufficiency.
CLASSICAL EDS (cEDS).
One of the main issues for people living with cEDS is the fragility of their skin. It is
therefore helpful to try to protect the skin against injury and ensure wounds are
well stitched to help reduce scarring.
High risk activities to avoid;
Contact sports such as rugby, ice hockey. boxing and martial arts. Football and
basketball are discouraged despite not being true contact sports. Playing at a
competitive level is discouraged.
If joint dislocations are a problem, then certain activities such as trampolining is
also discouraged.
Activities to be encouraged;
General health and regular gentle exercise such as badminton, squash, table
tennis, bowling, walking, swimming. Fatigue and joint pain can be features of
cEDS so this helps reduce these.
Adults may benefit from pilates as this builds core strength and protects joints.
Physiotherapy may be helpful for significant joint hypermobility.
Occupational therapy may be able to make recommendations for appropriate aids to
assist with activities of daily living where required, and also advice on pacing of
activities to avoid 'boom and bust' phenomenon and extreme fatigue.
CLASSICAL EDS (cEDS).
There is little evidence for cardiac screening in cEDS. It is generally accepted that
echocardiography should be carried out regularly due to an association with valve
prolapse, particularly mitral.
Higher risk of tearing in pregnancy and also a higher risk of early rupture of
membranes and early delivery if either parent has cEDS.
Other features of cEDS;
Piezogenic pedal papules - fat lumps that are visible around the heel of the foot (below).
Molluscoid pseudotumours - fleshy lesions over elbows and knees associated with scars (bottom).
Subcutaneous spheroids - small hard nodules that are movable under the skin, due to fat lobules
that have lost blood supply and calcified.
People with cEDS do not get stretch marks, even women who have had multiple pregnancies.
Major diagnostic criteria;
Skin hyperextensibility and atrophic scarring;
Generalised joint hypermobility.
1.
2.
There are 9 minor criteria.
Minimal clinical standards suggesting cEDS are major criterion 1 plus
either major criterion 2 or at lest 3 minor criteria. Final diagnosis is
made by molecular testing.
VERY RARE EDS VARIANTS.
4
1
KYPHOSCOLIOTIC EDS (kEDS).
Information in the medical literature is based on a very small number of cases. Most healthcare professionals
will never see a patient with any of these conditions in their whole career.
ARTHROCHALASIA EDS (aEDS).
DERMATOSPARAXIS EDS (dEDS).
BRITTLE CORNEA SYNDROME (BCS).
There are 5 minor criteria.
Minimal clinical standards suggesting aEDS are major criterion 1 plus either major criterion 2 or
3, with at least 2 minor criteria.. Final diagnosis is made by genetic testing.
Major criteria;
Congenital bilateral hip dislocation;
Severe generalised joint hypermobility with multiple dislocations/subluxations;
Skin hyperextensiblity.
1.
2.
3.
There are 9 major criteria and 11 minor criteria.
Minimal clinical standards suggesting dEDS are 2 major criteria of extreme skin fragility and
characteristic cranio-facial features, plus either 1 other major criterion or 3 minor criteria. Final
diagnosis is made by genetic testing.
(Characteristic cranio-facial features include puffy eyelids, blue sclerae, epicanthal folds (skin of
the upper eyelid that covers the inner corner of the eye), down-slanting palpebral fissures
(corners of the eyes that point downward) and micrognathia (undersized jaw).
There are 10 minor criteria.
Minimal clinical standards suggesting kEDS are major criteria 1 and 2 plus either major criterion
3 or 3 or more minor criteria.. Final diagnosis is made by genetic testing, although some kEDS
patients can be confirmed via a urine sample using high performance liquid chromotography..
Major criteria;
Congenital muscle hypotonia;
Congenital or early onset kyphoscoliosis (progressive or non-progressive);
Generalised joint hypermobility with dislocations/subluxations (shoulders/hips/knees in
particular.
1.
2.
3.
Major criteria;
Thin cornea with or without rupture (central corneal thickness often >400um);
Early onset progressive keratoconus (cone shaped cornea);
Early onset progressive keratoglobus (globular shaped cornea);
Blue sclerae.
1.
2.
3.
4.
There are 14 minor criteria.
Minimal clinical standards suggesting BCS are major criterion 1 plus 1 other major criterion, or 3
or more minor criteria.. Final diagnosis is made by genetic testing.
VERY RARE EDS VARIANTS.
1
Major criteria;
Skin hyperextensibility with velvety skin texture and absence of atrophic scarring;
Generalised joint hypermobility with or without recurrent dislocations (often shoulder or
ankle);
Easily bruised skin or spontaneous ecchymoses (skin discolorations due to bleeding under
the skin).
There are 7 minor criteria.
Minimal clinical standards suggesting clEDS are all 3 major criteria plus a family history
compatible with autosomal recessive transmission. Final diagnosis is made by genetic testing.
1.
2.
3.
CLASSICAL-LIKE EDS (clEDS).
Information in the medical literature is based on a very small number of cases. Most healthcare professionals
will never see a patient with any of these conditions in their whole career.
SPONDYLODYSPLASTIC EDS (spEDS).
MUSCULOCONTRACTUAL EDS (mcEDS). MYOPATHC EDS (mEDS). (only 11 cases - all within 6
families - reported WORLDWIDE).
Major criteria;
Short stature (progressive in childhood);
Muscle hypotonia (ranging from severe congenital to mild late-onset);
Bowing of limbs;
1.
2.
3.
There are 5 minor criteria.
Minimal clinical standards suggesting spEDS are major criterion 1 and 2, plus characteristic
radiographic abnormalities and at least 3 minor criteria. Final diagnosis is made by molecular
testing.
Major criteria;
Congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes
equinovarus (clubfoot);
Characteristic cranio-facial features, which are evident at birth or in early infancy;
Characteristic cutaneous features including skin hyperextensibility, easy bruising, skin fragility
with atrophic scar, increased palmar wrinkling.
1.
2.
3.
There are 15 minor criteria.
Minimal clinical standards suggesting mcEDS are major criteria 1 and 2 at birth or early childhood,
or major criteria 1 and 3 in adolescence or adulthood. Final diagnosis is made by genetic testing.
Major criteria;
Congenital muscle hypotonia and/or muscle atrophy, that improves with age;
Proximal joint contractures (knee/hip/elbow);
Hypermobility of distal joints.
1.
2.
3.
There are 4 minor criteria.
Minimal clinical standards suggesting mEDS is major criterion 1 plus either 1 other major
criterion, or 3 minor criteria. Final diagnosis is made by molecular testing.
VERY RARE EDS VARIANTS.
Information in the medical literature is based on a very small number of cases. Most healthcare professionals
will never see a patient with any of these conditions in their whole career.
PERIODONTAL EDS (pEDS).
Major criteria;
Severe and intractable periodontitis of early onset (childhood or adolescence);
Lack of attached gingiva;
Pretibial plaques;
Family history of a first-degree relative who meets clinical criteria.
1.
2.
3.
4.
There are 8 minor criteria.
Minimal clinical standards suggesting pEDS are major criteria 1 or 2, plus at least 2 other major
criteria and 1 minor criteria. Final diagnosis is made by molecular testing.
CARDIAC-VALVULAR EDS (cvEDS).
Major criteria;
Severe progressive cardiac-valvular problems (aortic valve, mitral valve);
Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising;
Joint hypermobility (generalised or restricted to small joints).
1.
2.
3.
There are 4 minor criteria.
Minimal clinical standards suggesting cvEDS are major criterion 1, plus a family history
compatible with autosomal recessive transmission and either 1 other major criterion or 2 or more
minor criteria. Final diagnosis is made by genetic testing.
LIVING WITH hEDS/HSD.
It's widely accepted that
physiotherapy forms one of
the mainstays of managing the
conditions of hEDS/HSDs.
There should be both a
subjective assessment and an
objective assessment, to allow
for a tailored physiotherapy
regime to best meet the needs
of the individual.
Physiotherapy.
Chronic pain in the Ehlers-Danlos
syndromes, especially hEDS, is
common and can be severe. It may
be widespread or localised.
Headaches and gastrointestinal
discomfort as well as joint, muscular
and nerve pain can occur.
Management includes physiotherapy,
medications and supports such as
splints and braces.
Pain management.
There is an overlap in the
symptoms of hEDS and ME/chronic
fatigue syndrome - but they are
clinically distinct. There is no
medication to alleviate tiredness,
but certain drugs are effective for
problems that contribute to fatigue.
Physiotherapy, prevention of
deconditiong and good nutrition
are recommneded.
Fatigue.
Orthopaedic surgery in the
Ehlers-Danlos syndromes is
contraversial and how much of
a role it should play in their
management is unclear.
Conservative managment is
preferrable but if this fails,
joint stabilisation and nerve
decompression procedures can
provide relief.
Surgery.
hEDS/HSD cannot be 'cured', but many people learn over time to control it and live full and active lives. Day-to-
day management of most types of EDS is supportive and based around appropriate exercise, physiotherapy and
pacing of activities. In addition, referrals should be sought for any associated conditions. This may mean referral
to specialist services such as neurology, gastroenterology, podiatry or pain management.
ASSOCIATED
CONDITIONS.
Many conditions appear to commonly occur alongside the ED syndromes,
particularly with hEDS and HSD. In many of these cases, whilst there is a
demonstrable association, it is not scientifically possible to prove that one
causes the other.
Brain and spine;
Migraine.
Early disc degeneration.
Chiari 1 malformation.
Craniocervical instability.
Motor delay.
Curvature of the spine.
MSK pain.
Weakness.
Fatigue.
Mobility impairment.
Joints;
Curvature and twisting of
the spine.
Early osteoparosis.
Osteoarthritis.
Dislocations.
Scoliosis and kyphosis.
Instability of the
craniocervical junction.
Cardiovascular;
Arterial rupture.
Aortic and mitral valve
problems.
Aortic root dilation.
PoTS.
?Mitral valve prolapse.
Skin;
Fragility.
Stretchiness.
Abnormal scarring.
Stretch marks.
Easy bruising.
Slow wound healing.
Immune system;
Mast cell activation.
Excess histamine production.
Mental health;
Anxiety disorders.
Depression.
Limited evidence for other
psychiatric conditions.
Dental, oral & voice problems;
Teeth, gums and oral
structures.
Facial and head pain.
Dislocations of the jaw.
Bladder;
Urinary tract abnormalities.
Dysfunction - loss of control.
Urgency.
Digestive disorders;
Hernias.
Acid reflux.
Irritable bowel syndrome.
DIAGNOSIS OF hEDS/HDS.WHY PATIENTS MUST BE ASSESSED ON AN INDIVIDUAL BASIS.
"Taking a ‘seen one person with hEDS, seen
them all’ attitude to hEDS patients is not
acceptable. The signs, symptoms and associated
disorders which affect an individual with hEDS
most profoundly can vary not only between
different individuals, but also (during any given
period) in each individual themselves."
"The severity of the wide ranging symptoms, the
joints that are affected and the level of pain / fatigue
experienced by those with HSD or hEDS, can vary
greatly from day to day, or even hour to hour".
Courtesy of "Understanding
hEDS and HSD" by C.Smith
DIAGNOSIS OF hEDS/HDS.
SIGNS/SUSPICION OF hEDS/HDS SIGNS/SUSPICION OF 'RARE' EDS
REFER TO RHEUMATOLOGIST REFER TO REGIONAL
GENETICS SERVICE
REGIONAL GENETICS SERVICES;
Sheffield Clinic:
Ehlers-Danlos Syndrome National Diagnostic Service
Sheffield Clinical Genetics Department
Sheffield Children’s Hospital
Western Bank
Sheffield  S10 2TH
Tel: 0114 271 7764
Email: EDS@sch.nhs.uk
London Clinic:
Ehlers-Danlos Syndrome National Diagnostic Service
Level 8V
Northwick Park & St Mark’s Hospitals
Watford Road
Harrow
Middlesex  HA1 3UJ
Tel: 020 8869 3166
Email: LNWH-tr.EDSLONDONOFFICE@nhs.net
IMPLICATIONS FOR PRACTICE
IN CARDIOLOGY;
Increased risk of arterial rupture - especially in vascular EDS.
Severe progressive problems of the aortic and mitral valves in
cardiac-valvular EDS.
In hEDS, you're likely to see a (mild) dilation of the aortic root
- this is 'unlikely to progress').
Association with postural orthostatic tachycardia syndrome
(PoTS).
Whether there is an increased frequency of mitral valve
prolapse in hEDS is contraversial.
LOW THRESHOLD FOR
CT-AORTAGRAM IN THE
ACUTE SETTING FOR ALL
FORMS OF EDS
AGGRESSIVE CONTROL
OF BLOOD PRESSURE
MANY WILL HAVE AN
INDICATION FOR
SURVEILLANCE
ECHOCARDIOGRAMS
SEEK EXPERT OPINION
WHERE A DIAGNOSIS IS
SUSPECTED
(SHORT TERM)
(SHORT-MEDIUM TERM)
(LONG TERM)
(MEDIUM-LONG TERM)
HIGHEST RISK OF THORACIC AORTIC DISSECTION IN
VASCULAR EDS, FOLLOWED BY HYPERMOBILE AND
KYPHOSCOLIOTIC EDS, BUT THRESHOLD FOR
SUSPICION SHOULD BE LOW IN ALL hEDS/HSD.
(PREVIOUS SLIDE)
SUPPORT;
There are over 50 local support groups in the UK, including 2 in the East Midlands - Leicester and Nottingham.
https://www.ehlers-danlos.org/support/support-groups/east-midlands/
REFERENCES;
https://www.ehlers-danlos.org/
https://www.nhs.uk/conditions/ehlers-danlos-syndromes/
https://www.pinterest.co.uk/pin/361906520037825406/?lp=true
http://www.forgottendiseases.org/assets/EhlersDanlos_Classic_Type1_Type2.html
http://hypermobility.org/professionals-hypermobility-network/
https://www.hypermobilityconnect.com/the-spectrum-of-hypermobility/
https://www.ehlers-danlos.org/wp-
content/uploads/2017/08/newFlowChartHypermobile.pdf
https://www.ehlers-danlos.org/wp-content/uploads/2017/08/newFlowChartRARE.pdf
https://www.rcgp.org.uk/-/media/7A02744176674B60ACCDAD1B95FBBFA3.ashx
https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-
syndrome
https://au.news.yahoo.com/perth-toddler-with-rare-micrognathia-doesnt-qualify-as-
disabled-36156281.html?
guccounter=1&guce_referrer=aHR0cHM6Ly93d3cuZ29vZ2xlLmNvbS8&guce_referrer_sig=AQ
AAAI6W7hTqJkW2vCet0ABsz7grk12hmoUVmK_0qrPXXG3z_HpGML6AfY291HO9hTzDIRLzIC0
BV6G5vWxL29zwguqEwmrfXTA40aF8u2anDjX60JnFf5InZNkWjifplcVipKi_tAGf0nOwEaZKJ
Mxp9Uzrm7kQF1AuaN3MAR24jjSW
https://rarediseases.info.nih.gov/diseases/8507/classical-like-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome
https://rarediseases.info.nih.gov/diseases/8507/classical-like-ehlers-danlos-syndrome
https://journals.lww.com/clindysmorphol/Abstract/2017/07000/A_novel_case_of_autoso
mal_dominant_cutis_laxa_in_a.2.aspx
https://rarediseases.info.nih.gov/diseases/8486/musculocontractural-ehlers-danlos-
syndrome
https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome
https://www.researchgate.net/figure/a-b-Facial-appearence-of-the-case_fig1_11686535
https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes
https://rarediseases.info.nih.gov/diseases/12474/periodontal-ehlers-danlos-syndrome
https://www.ehlers-danlos.com/eds-types/#cvEDS
Byers, Belmont, Black, De Backer, Frank, Jeunemaitre et al. (2017) Diagnosis, natural
history and management in vascular elhers-danlos syndrome. American Journal of
Medical Genetics.
https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome
https://en.wikipedia.org/wiki/Epicanthic_fold
https://www.ncbi.nlm.nih.gov/pubmed/7237708

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Hypermobile Ehlers-Danlos Syndrome & hypermobility spectrum disorders - A presentation

  • 1. B Y S I M O N M A R K D A L E Y ( 2 0 1 9 ) Hypermobile Ehlers-Danlos syndrome (hEDS) & hypermobility spectrum disorders (HSD). A presentation.
  • 2. INTRODUCTION. Hypermobile Ehlers-Danlos syndrome (hEDS) is thought to be the most common genetic connective tissue disorder, but is commonly misdiagnosed (as are all HSD). Prevalence is unclear with a dearth of up-to-date research, however it's estimated that hEDS affects 1 in 5,000 people globally (0.02% of population). Comparative prevalence; familial hyperlipidaemia; 1 in 500, cystic fibrosis; 1 in 1250. Huntington's disease; 1 in 15,000.  hEDS & HDS may be inherited, or may occur as a new mutation - either way they usually cause the body's collagen to be fragile and stretchy. As a result, typical features include increased skin elasticity and/or increased joint mobility. As collagen is present throughout the body, people with hEDS & HDSs experience a broad range of symptoms. These are complex syndromes affecting many systems of the body at once. Symptoms and severity vary considerably from person to person.
  • 3. INTRODUCTION. Recent changes have been made to the way that hEDS is diagnosed. There is no genetic test for this type, so diagnosis involves looking for joint hypermobility, signs of faulty connective tissue throughout the body (hernias, prolapses, skin features), a family history and musculo-skeletal problems (long-term pain, dislocations). There are many associated symptoms and disorders which don't form part of the formal criteria, and which do not directly result from joint hypermobility, for example; orthostatic tachycardia, digestive disorders, pelvic and bladder dysfunction and anxiety disorders. These are often more detrimental to quality of life than the joint symptoms. Joint hypermobility with its possible complications is now classified using the idea of a spectrum (next slide). At one end is simple hypermobility with no symptoms - is not a disease and is a trait, like height. At the other end of the spectrum is hEDS and in between falls a range of hypermobility-related conditions called hypermobility spectrum disorders (HSD).
  • 4. HSD are likely to be common. Someone with HSD can be just as symptomatic - more so even - than someone with hEDS. Management advice for both hEDS and HSD is the same. THE 'HYPERMOBILITY SPECTRUM'.
  • 5. CLASSIFICATIONS. Since 2017, 13 EDS types are recognised - most of which are very rare. The gene mutations causing the conditions have been identified and can be tested for in all types, except the most common - hypermobile EDS. Hypermobile (hEDS) - most common. The rest are extremely rare; Kyphoscoliotic (kEDS). Arthrochalasia (aEDS). Dermatosparaxis (dEDS). Brittle cornea syndrome (BCS). Myopathic (mEDS). Periodontal (pEDS). Cardiac-valvular (cvEDS). Classical (cEDS) - rare. Vascular (vEDS) - rare. Classical-like (clEDS). Spondylodysplastic (spEDS). Musculocotractual (mcEDS).
  • 6. HYPERMOBILE EDS There are at least 57 associated features of hEDS. 80-99% of individuals will have the following; Acrocyanosis (persistent blue colour of hands, feet or parts of face). Arthralgia (joint pain). Elbow dislocation. Fatigue. Hip dislocation. Hyperextensible/hyperelastic skin. Joint hyperflexibility. Myalgia (muscle ache). Sleep disturbance. Vertigo. Wormian bones (extra bones with cranial sutures). (hEDS). 30-79% will have the following; Arrhythmia Constipation. Decreased nerve conduction velocity. Depression. Malabsorption. Migraine. Nausea and vomiting. Osteoarthritis. Pes planus (flat feet). Soft skin. Thin skin. 5-29% will have the following; Abnormal palate morphology. Abnormal menstrual cycle. Abnormality of the wrist. Anorectal anomaly. Aplasia/hypoplasia of the abdominal wall musculature. Apnoea. Arterial dissection. Ascending tubular aorta aneurysm. Atypical scarring of skin. Cystocele (bladder hernia). Decreased fertility. Epicanthus (eye folds). Gastro-oesophageal reflux. Gastrointestinal dysmotility. Gingival overgrowth. Gingivitis. Inguinal hernia. Gingival overgrowth. Gingivitis. Inguinal hernia. Keratoconjunctivitis sicca (dry eyes). Keratoconus (bulging cornea). Limitation of joint mobility. Microdontia (decreased tooth width). Osteolysis. Paresthesia. Ptosis (drooping upper eyelid). Scoliosis. Subcutaneous nodules. Tendon rupture. Umbilical hernia. Venous insufficiency. It is not known what percentage of individuals suffer with the following; Joint dislocation. Joint hypermobility. Joint laxity. Mitral valve prolapse. Striase distensae (stetch marks).
  • 7. HYPERMOBILE EDS The diagnosis of hypermobile EDS (hEDS) remains clinical; there is no molecular or genetic cause yet identified, so there is no test available. There is a clinical spectrum ranging from asymptomatic joint hypermobility, through "non-syndromic" hypermobility with secondary manifestations, to hEDS. A diagnosis of hEDS should be assigned only in those who meet all of the criteria, which should help research efforts to identify the underlying genetic cause(s), which in turn may help clinical management. As this is a clinical diagnosis, it is important to be relatively confident that the diagnosis is not instead one of the many other disorders of connective tissue, for example; Marfan Syndrome, Osteogenesis imperfecta, Sjogren's syndrome and many others. The international diagnostic criteria for hEDS is shown on the right. (hEDS).
  • 8. VASCULAR EDS (vEDS). Generally considered to be the most severe form of EDS. Long-term prognosis is generally poor and is associated with reduced life expectancy. Estimated to affect between 1 in 50,000 and 1 in 200,000. Amongst those diagnosed as the result of a complication, 25% have a significant medical complication by age 20 and >80% by age 40. Median life span is 48 years. Some people are diagnosed on the basis of subtle signs in their physical appearance together with medical history; Fragile tissues (including arteries, muscles and internal organs) prone to rupture. Thin, translucent skin. Characteristic facial appearance (thin lips, small chin, thin nose, large eyes). Acrogeria (premature aging of hands and feet). Hypermobility of small joints. Early onset varicose veins. Pneumothorax. Easy bruising. Joint dislocations and subluxations. Congenital dislocation of the hips. Congenital clubfoot. Receding gums.
  • 9. VASCULAR EDS (vEDS). Diagnosis of vEDS is often made by a genetic test. Sometimes a skin biopsy is required for confirmation. Individuals may not experience any significant problems until later in life. Others will have had signs of vEDS from a young age. Day to day, many individuals with vEDS are physically fit and well, however there is a risk of problems due to fragile blood vessels and hollow organs which could rupture. These are unpredictable and usually result in emergency situations. As a result it is important to discern if a patient has this diagnosis to aid in timely management. Activities that increase risk; Strenuous contact sports. Sprinting / activities involving sudden acceleration. Tasks involving pushing or lifting heavy objects. Competitive exercise performed to the point of exhaustion. Playing a brass instrument causes an increase in pressure in the lungs. Activities to be encouraged include regular aerobic exercise performed in moderation, with examples as follows; Swimming, cycling, walking, hiking, jogging.
  • 10. VASCULAR EDS (vEDS). All patients with vEDS are encouraged to be seen annually in a specialist cardiac clinic. This ensures access to up to date evidence-based care. Management priorities include control of blood pressure, and scans to exclude development of any aneurysms. General advice is to avoid surgery where possible. Fragility of tissues and blood vessels significantly increases risk of serious complications. Pregnancy puts the cardiovascular system under extreme pressure in all individuals and there are additional risks for women with vascular EDS in pregnancy. It is important that this is communicated early in the pregnancy. A planned caesarean delivery in a hospital with specialist vascular surgery may be suggested. Major diagnostic criteria; Family history of vEDS with documented causative variant in COL3A1; Arterial rupture at a young age; Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology; Uterine rupture during the 3rd trimester in the absence of previous C-section or severe peri-partum tears; Carotid-cavernous sinus fistula (CCSF) formation in the absence of trauma. 1. 2. 3. 4. 5. There are 12 minor criteria - Minimal clinical standards suggesting vEDS are a family history of the disorder, arterial rupture or dissection in individuals less than 40 years old, unexplained sigmoid colon rupture, or spontaneous pneumothorax in the presence of other features consistent with vEDS. Testing for vEDS should also be considered in the presence of a combination of the other minor criteria. Final diagnosis is made by molecular testing.
  • 11. CLASSICAL EDS (cEDS). Classical EDS (cEDS) is characterised by joint hypermobility, very stretchy and fragile skin which leads to significant bruising and widened, sunken (atrophic) scars. As with vEDS, it is often possible to make a diagnosis of cEDS from physical examination and medical history. Clinical features to look for include; Fragile skin prone to splitting with minimal trauma. This leads to significant scarring usually starting in childhood. Common sites are knees, elbows, shins, forehead and chin. Scars tend to be wide with a thin appearance often described as "like tissue paper" (surgical scars tend to heal normally). Stretchy skin, often very stretchy! Joint hypermobility , which may cause them to slip out of position resulting in dislocations or subluxations and may be associated with chronic joint pain. Easy bruising, which may lead to permanent discolouration and is often visible on the shins. Fragile and extensible tissues can also result in hernias, prolapse and cervical insufficiency.
  • 12. CLASSICAL EDS (cEDS). One of the main issues for people living with cEDS is the fragility of their skin. It is therefore helpful to try to protect the skin against injury and ensure wounds are well stitched to help reduce scarring. High risk activities to avoid; Contact sports such as rugby, ice hockey. boxing and martial arts. Football and basketball are discouraged despite not being true contact sports. Playing at a competitive level is discouraged. If joint dislocations are a problem, then certain activities such as trampolining is also discouraged. Activities to be encouraged; General health and regular gentle exercise such as badminton, squash, table tennis, bowling, walking, swimming. Fatigue and joint pain can be features of cEDS so this helps reduce these. Adults may benefit from pilates as this builds core strength and protects joints. Physiotherapy may be helpful for significant joint hypermobility. Occupational therapy may be able to make recommendations for appropriate aids to assist with activities of daily living where required, and also advice on pacing of activities to avoid 'boom and bust' phenomenon and extreme fatigue.
  • 13. CLASSICAL EDS (cEDS). There is little evidence for cardiac screening in cEDS. It is generally accepted that echocardiography should be carried out regularly due to an association with valve prolapse, particularly mitral. Higher risk of tearing in pregnancy and also a higher risk of early rupture of membranes and early delivery if either parent has cEDS. Other features of cEDS; Piezogenic pedal papules - fat lumps that are visible around the heel of the foot (below). Molluscoid pseudotumours - fleshy lesions over elbows and knees associated with scars (bottom). Subcutaneous spheroids - small hard nodules that are movable under the skin, due to fat lobules that have lost blood supply and calcified. People with cEDS do not get stretch marks, even women who have had multiple pregnancies. Major diagnostic criteria; Skin hyperextensibility and atrophic scarring; Generalised joint hypermobility. 1. 2. There are 9 minor criteria. Minimal clinical standards suggesting cEDS are major criterion 1 plus either major criterion 2 or at lest 3 minor criteria. Final diagnosis is made by molecular testing.
  • 14. VERY RARE EDS VARIANTS. 4 1 KYPHOSCOLIOTIC EDS (kEDS). Information in the medical literature is based on a very small number of cases. Most healthcare professionals will never see a patient with any of these conditions in their whole career. ARTHROCHALASIA EDS (aEDS). DERMATOSPARAXIS EDS (dEDS). BRITTLE CORNEA SYNDROME (BCS). There are 5 minor criteria. Minimal clinical standards suggesting aEDS are major criterion 1 plus either major criterion 2 or 3, with at least 2 minor criteria.. Final diagnosis is made by genetic testing. Major criteria; Congenital bilateral hip dislocation; Severe generalised joint hypermobility with multiple dislocations/subluxations; Skin hyperextensiblity. 1. 2. 3. There are 9 major criteria and 11 minor criteria. Minimal clinical standards suggesting dEDS are 2 major criteria of extreme skin fragility and characteristic cranio-facial features, plus either 1 other major criterion or 3 minor criteria. Final diagnosis is made by genetic testing. (Characteristic cranio-facial features include puffy eyelids, blue sclerae, epicanthal folds (skin of the upper eyelid that covers the inner corner of the eye), down-slanting palpebral fissures (corners of the eyes that point downward) and micrognathia (undersized jaw). There are 10 minor criteria. Minimal clinical standards suggesting kEDS are major criteria 1 and 2 plus either major criterion 3 or 3 or more minor criteria.. Final diagnosis is made by genetic testing, although some kEDS patients can be confirmed via a urine sample using high performance liquid chromotography.. Major criteria; Congenital muscle hypotonia; Congenital or early onset kyphoscoliosis (progressive or non-progressive); Generalised joint hypermobility with dislocations/subluxations (shoulders/hips/knees in particular. 1. 2. 3. Major criteria; Thin cornea with or without rupture (central corneal thickness often >400um); Early onset progressive keratoconus (cone shaped cornea); Early onset progressive keratoglobus (globular shaped cornea); Blue sclerae. 1. 2. 3. 4. There are 14 minor criteria. Minimal clinical standards suggesting BCS are major criterion 1 plus 1 other major criterion, or 3 or more minor criteria.. Final diagnosis is made by genetic testing.
  • 15. VERY RARE EDS VARIANTS. 1 Major criteria; Skin hyperextensibility with velvety skin texture and absence of atrophic scarring; Generalised joint hypermobility with or without recurrent dislocations (often shoulder or ankle); Easily bruised skin or spontaneous ecchymoses (skin discolorations due to bleeding under the skin). There are 7 minor criteria. Minimal clinical standards suggesting clEDS are all 3 major criteria plus a family history compatible with autosomal recessive transmission. Final diagnosis is made by genetic testing. 1. 2. 3. CLASSICAL-LIKE EDS (clEDS). Information in the medical literature is based on a very small number of cases. Most healthcare professionals will never see a patient with any of these conditions in their whole career. SPONDYLODYSPLASTIC EDS (spEDS). MUSCULOCONTRACTUAL EDS (mcEDS). MYOPATHC EDS (mEDS). (only 11 cases - all within 6 families - reported WORLDWIDE). Major criteria; Short stature (progressive in childhood); Muscle hypotonia (ranging from severe congenital to mild late-onset); Bowing of limbs; 1. 2. 3. There are 5 minor criteria. Minimal clinical standards suggesting spEDS are major criterion 1 and 2, plus characteristic radiographic abnormalities and at least 3 minor criteria. Final diagnosis is made by molecular testing. Major criteria; Congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot); Characteristic cranio-facial features, which are evident at birth or in early infancy; Characteristic cutaneous features including skin hyperextensibility, easy bruising, skin fragility with atrophic scar, increased palmar wrinkling. 1. 2. 3. There are 15 minor criteria. Minimal clinical standards suggesting mcEDS are major criteria 1 and 2 at birth or early childhood, or major criteria 1 and 3 in adolescence or adulthood. Final diagnosis is made by genetic testing. Major criteria; Congenital muscle hypotonia and/or muscle atrophy, that improves with age; Proximal joint contractures (knee/hip/elbow); Hypermobility of distal joints. 1. 2. 3. There are 4 minor criteria. Minimal clinical standards suggesting mEDS is major criterion 1 plus either 1 other major criterion, or 3 minor criteria. Final diagnosis is made by molecular testing.
  • 16. VERY RARE EDS VARIANTS. Information in the medical literature is based on a very small number of cases. Most healthcare professionals will never see a patient with any of these conditions in their whole career. PERIODONTAL EDS (pEDS). Major criteria; Severe and intractable periodontitis of early onset (childhood or adolescence); Lack of attached gingiva; Pretibial plaques; Family history of a first-degree relative who meets clinical criteria. 1. 2. 3. 4. There are 8 minor criteria. Minimal clinical standards suggesting pEDS are major criteria 1 or 2, plus at least 2 other major criteria and 1 minor criteria. Final diagnosis is made by molecular testing. CARDIAC-VALVULAR EDS (cvEDS). Major criteria; Severe progressive cardiac-valvular problems (aortic valve, mitral valve); Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; Joint hypermobility (generalised or restricted to small joints). 1. 2. 3. There are 4 minor criteria. Minimal clinical standards suggesting cvEDS are major criterion 1, plus a family history compatible with autosomal recessive transmission and either 1 other major criterion or 2 or more minor criteria. Final diagnosis is made by genetic testing.
  • 17. LIVING WITH hEDS/HSD. It's widely accepted that physiotherapy forms one of the mainstays of managing the conditions of hEDS/HSDs. There should be both a subjective assessment and an objective assessment, to allow for a tailored physiotherapy regime to best meet the needs of the individual. Physiotherapy. Chronic pain in the Ehlers-Danlos syndromes, especially hEDS, is common and can be severe. It may be widespread or localised. Headaches and gastrointestinal discomfort as well as joint, muscular and nerve pain can occur. Management includes physiotherapy, medications and supports such as splints and braces. Pain management. There is an overlap in the symptoms of hEDS and ME/chronic fatigue syndrome - but they are clinically distinct. There is no medication to alleviate tiredness, but certain drugs are effective for problems that contribute to fatigue. Physiotherapy, prevention of deconditiong and good nutrition are recommneded. Fatigue. Orthopaedic surgery in the Ehlers-Danlos syndromes is contraversial and how much of a role it should play in their management is unclear. Conservative managment is preferrable but if this fails, joint stabilisation and nerve decompression procedures can provide relief. Surgery. hEDS/HSD cannot be 'cured', but many people learn over time to control it and live full and active lives. Day-to- day management of most types of EDS is supportive and based around appropriate exercise, physiotherapy and pacing of activities. In addition, referrals should be sought for any associated conditions. This may mean referral to specialist services such as neurology, gastroenterology, podiatry or pain management.
  • 18. ASSOCIATED CONDITIONS. Many conditions appear to commonly occur alongside the ED syndromes, particularly with hEDS and HSD. In many of these cases, whilst there is a demonstrable association, it is not scientifically possible to prove that one causes the other. Brain and spine; Migraine. Early disc degeneration. Chiari 1 malformation. Craniocervical instability. Motor delay. Curvature of the spine. MSK pain. Weakness. Fatigue. Mobility impairment. Joints; Curvature and twisting of the spine. Early osteoparosis. Osteoarthritis. Dislocations. Scoliosis and kyphosis. Instability of the craniocervical junction. Cardiovascular; Arterial rupture. Aortic and mitral valve problems. Aortic root dilation. PoTS. ?Mitral valve prolapse. Skin; Fragility. Stretchiness. Abnormal scarring. Stretch marks. Easy bruising. Slow wound healing. Immune system; Mast cell activation. Excess histamine production. Mental health; Anxiety disorders. Depression. Limited evidence for other psychiatric conditions. Dental, oral & voice problems; Teeth, gums and oral structures. Facial and head pain. Dislocations of the jaw. Bladder; Urinary tract abnormalities. Dysfunction - loss of control. Urgency. Digestive disorders; Hernias. Acid reflux. Irritable bowel syndrome.
  • 19. DIAGNOSIS OF hEDS/HDS.WHY PATIENTS MUST BE ASSESSED ON AN INDIVIDUAL BASIS. "Taking a ‘seen one person with hEDS, seen them all’ attitude to hEDS patients is not acceptable. The signs, symptoms and associated disorders which affect an individual with hEDS most profoundly can vary not only between different individuals, but also (during any given period) in each individual themselves." "The severity of the wide ranging symptoms, the joints that are affected and the level of pain / fatigue experienced by those with HSD or hEDS, can vary greatly from day to day, or even hour to hour". Courtesy of "Understanding hEDS and HSD" by C.Smith
  • 20. DIAGNOSIS OF hEDS/HDS. SIGNS/SUSPICION OF hEDS/HDS SIGNS/SUSPICION OF 'RARE' EDS REFER TO RHEUMATOLOGIST REFER TO REGIONAL GENETICS SERVICE
  • 21. REGIONAL GENETICS SERVICES; Sheffield Clinic: Ehlers-Danlos Syndrome National Diagnostic Service Sheffield Clinical Genetics Department Sheffield Children’s Hospital Western Bank Sheffield  S10 2TH Tel: 0114 271 7764 Email: [email protected] London Clinic: Ehlers-Danlos Syndrome National Diagnostic Service Level 8V Northwick Park & St Mark’s Hospitals Watford Road Harrow Middlesex  HA1 3UJ Tel: 020 8869 3166 Email: [email protected]
  • 22. IMPLICATIONS FOR PRACTICE IN CARDIOLOGY; Increased risk of arterial rupture - especially in vascular EDS. Severe progressive problems of the aortic and mitral valves in cardiac-valvular EDS. In hEDS, you're likely to see a (mild) dilation of the aortic root - this is 'unlikely to progress'). Association with postural orthostatic tachycardia syndrome (PoTS). Whether there is an increased frequency of mitral valve prolapse in hEDS is contraversial. LOW THRESHOLD FOR CT-AORTAGRAM IN THE ACUTE SETTING FOR ALL FORMS OF EDS AGGRESSIVE CONTROL OF BLOOD PRESSURE MANY WILL HAVE AN INDICATION FOR SURVEILLANCE ECHOCARDIOGRAMS SEEK EXPERT OPINION WHERE A DIAGNOSIS IS SUSPECTED (SHORT TERM) (SHORT-MEDIUM TERM) (LONG TERM) (MEDIUM-LONG TERM) HIGHEST RISK OF THORACIC AORTIC DISSECTION IN VASCULAR EDS, FOLLOWED BY HYPERMOBILE AND KYPHOSCOLIOTIC EDS, BUT THRESHOLD FOR SUSPICION SHOULD BE LOW IN ALL hEDS/HSD. (PREVIOUS SLIDE)
  • 23. SUPPORT; There are over 50 local support groups in the UK, including 2 in the East Midlands - Leicester and Nottingham. https://www.ehlers-danlos.org/support/support-groups/east-midlands/
  • 24. REFERENCES; https://www.ehlers-danlos.org/ https://www.nhs.uk/conditions/ehlers-danlos-syndromes/ https://www.pinterest.co.uk/pin/361906520037825406/?lp=true http://www.forgottendiseases.org/assets/EhlersDanlos_Classic_Type1_Type2.html http://hypermobility.org/professionals-hypermobility-network/ https://www.hypermobilityconnect.com/the-spectrum-of-hypermobility/ https://www.ehlers-danlos.org/wp- content/uploads/2017/08/newFlowChartHypermobile.pdf https://www.ehlers-danlos.org/wp-content/uploads/2017/08/newFlowChartRARE.pdf https://www.rcgp.org.uk/-/media/7A02744176674B60ACCDAD1B95FBBFA3.ashx https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos- syndrome https://au.news.yahoo.com/perth-toddler-with-rare-micrognathia-doesnt-qualify-as- disabled-36156281.html? guccounter=1&guce_referrer=aHR0cHM6Ly93d3cuZ29vZ2xlLmNvbS8&guce_referrer_sig=AQ AAAI6W7hTqJkW2vCet0ABsz7grk12hmoUVmK_0qrPXXG3z_HpGML6AfY291HO9hTzDIRLzIC0 BV6G5vWxL29zwguqEwmrfXTA40aF8u2anDjX60JnFf5InZNkWjifplcVipKi_tAGf0nOwEaZKJ Mxp9Uzrm7kQF1AuaN3MAR24jjSW https://rarediseases.info.nih.gov/diseases/8507/classical-like-ehlers-danlos-syndrome https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome https://rarediseases.info.nih.gov/diseases/8507/classical-like-ehlers-danlos-syndrome https://journals.lww.com/clindysmorphol/Abstract/2017/07000/A_novel_case_of_autoso mal_dominant_cutis_laxa_in_a.2.aspx https://rarediseases.info.nih.gov/diseases/8486/musculocontractural-ehlers-danlos- syndrome https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome https://www.researchgate.net/figure/a-b-Facial-appearence-of-the-case_fig1_11686535 https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes https://rarediseases.info.nih.gov/diseases/12474/periodontal-ehlers-danlos-syndrome https://www.ehlers-danlos.com/eds-types/#cvEDS Byers, Belmont, Black, De Backer, Frank, Jeunemaitre et al. (2017) Diagnosis, natural history and management in vascular elhers-danlos syndrome. American Journal of Medical Genetics. https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome https://en.wikipedia.org/wiki/Epicanthic_fold https://www.ncbi.nlm.nih.gov/pubmed/7237708