E hlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders. [cda-adc.ca]

Presentation Most types of EDS present with symptoms affecting skin and joints. However, many systems can be affected. [patient.info]

Due to the patient’s presentation, we felt that he was presenting with a threatened limb and the patient was emergently taken to the peripheral catheterization laboratory for angiography. [vasculardiseasemanagement.com]

[…] abnormality Ehlers-Danlos syndrome, fibronectin-deficient Prevalence: Inheritance: Autosomal recessive Age of onset: Adolescent, Adult ICD-10: Q79.6 OMIM: 225310 UMLS: C1857038 MeSH: - GARD: 8508 MedDRA: - The documents contained in this web site are presented [orpha.net]

Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement. Patients with the Classical Type may experience the same symptoms as the Hypermobility Type. [snpedia.com]

• Short Stature

  stature, blue sclerae, thin and hyperelastic skin, muscle atrophy Recessive SLC39A13 Comprehensive EDS Panel Modified from Byers 2000 in The Metabolic & Molecular Bases of Inherited Disease Step 2: Optional Splicing Studies Studies of RNA extracted from [uwcpdx.org]

  The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. [medlineplus.gov]

  Clinical presentation can include stunted growth, short stature, protuberant eyes with bluish sclera, wrinkled skin of the palms, atrophy of muscles at the base of the thumb (thenar muscles), and tapering fingers. [rarediseases.org]

  Major criteria are: Short stature (progressive in childhood); Muscle hypotonia (ranging from severe congenital, to mild later-onset); and Bowing of limbs. [ehlers-danlos.com]

  Skeletal surveys show platyspondyly with moderate short stature, osteopenia, and widened metaphyses. [nature.com]

• Swelling

  At admission he had respiratory distress due to the abdominal swelling and required oxygen supplementation. Abdominal and pelvic ultrasound confirmed ascites and also revealed a left pelvic aneurysm (Figure 2). [acgcasereports.gi.org]

  Pain, which arises 24 hours before a luxation, precedes the bilateral swelling of the face and bleeding in the 2 cheeks ( Fig. 2 ). These episodes last from 30 seconds to 2 minutes and the residual pain lasts up to 12 hours. [cda-adc.ca]

  […] through the lower layer of the skin leading to small painful lumps called Piezogenic papules; blue, cold, and sweaty (but not painful) skin due to constriction of blood vessels that return to normal – called Acrocyanosis; and, Chilblains, red and painful swellings [hypermobility.org]

  […] frequent cutaneous manifestations include acrocyanosis (a painless disorder caused by constriction or narrowing of the small blood vessels in the skin, mainly the hands in which the affected areas turn blue and become cold and sweaty, and localized swelling [nature.com]

• Ecchymosis

  Recurrent temporomandibular joint subluxation and facial ecchymosis leading to diagnosis of Ehlers-Danlos syndrome. J Oral Maxillofac Surg 1990; 48(6):641-7. 24. Jones ML. Orthodontic treatment in Ehlers-Danlos syndrome. [cda-adc.ca]

• Easy Bruising

  […] pain, easy bruising, easy bleeding, normal scars Dominant TNXB ( (Not available through CDL) Vascular Type (EDS type IV) Thin, translucent skin with visible veins; marked bruising; skin and joints have normal extensibility; arterial, bowel and uterine [uwcpdx.org]

  Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues. [medicinenet.com]

  The primary characteristics are hyperextensible skin and joints, easy bruising, reduced wound healing, pseudotumours, and ocular defects. [dermis.net]

  Easy bruising is common. Joint hypermobility is the primary clinical manifestation. [nature.com]

  bruising and hemorrhage and impaired wound healing in affected individuals. [dog.org]

• Gingival Recession

  ADAMTS2 Dermatosparaxis, Type VIIC Cardiac-Valvular Form Joint hypermobility, skin hyperextensibility, cardiac valvular defects Recessive COL1A2 Comprehensive EDS Panel Periodontal (EDS type VIII) Periodontitis, gingival recession, early tooth loss, [uwcpdx.org]

  But other forms are autosomal recessive, so are even more rare, thankfully. [ohtwist.com]

  […] or rupture Extensive bruising Characteristic facial appearance Acrogeria Hypermobility of small joints Tendon/muscle rupture Talipes equinovarus Early onset varicose veins Arteriovenous, carotid-cavernous sinus fistula Pneumothorax/pneumohemothorax Gingival [physio-pedia.com]

  Gingival recession and gingival fragility. Early-onset varicose veins (under age 30 years and nulliparous if female). Management of vEDS vEDS is associated with a shortened overall survival due to the risk of arterial rupture. [patient.info]

• Neck Pain

  Neck pain. Having a gentle massage therapist who is knowledgeable about EDS can be crucial. Just another reason we need to spread awareness! 12. [buzzfeed.com]

  Braces can be used to improve stability A soft neck collar may help decrease neck pain A wheelchair may help offload stress on lower extremity joints. [morphopedics.wikidot.com]

• Arthralgia

  […] 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 ) [5] Fibromyalgia symptoms: Myalgia and arthralgia [dysautonomiaconnection.org]

• Muscle Cramp

  Fatigue and muscle cramps are relatively frequent. [nature.com]

• Myalgia

  […] 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 ) [5] Fibromyalgia symptoms: Myalgia [dysautonomiaconnection.org]

• Contusion

  Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvenile pseudodiabetique de MM Hallopeault Mace de Lepinari). Bull Soc Franc Dermatol Syph. 1908;19:70-72. Barabas AP. [vasculardiseasemanagement.com]

• Thin Skin

  [UMLS: C0241074 HPO: HP:0000974 ] [HPO: HP:0000974 UMLS: C0241074 ] - Thin skin [SNOMEDCT: 277797007 ] [UMLS: C0423757 HPO: HP:0000963 ] [HPO: HP:0000963 UMLS: C0423757 ] - Easy bruisability [SNOMEDCT: 425075004, 424131007 ] [UMLS: C0423798 HPO: HP:0000978 [omim.org]

  Thin, translucent skin (especially noticeable on the chest/abdomen) Easy bruising (spontaneous or with minimal trauma) Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes) Acrogeria (an aged appearance to the extremities [uwcpdx.org]

  […] distensae Stretch marks 0001065 Thin skin 0000963 Showing of 9 | Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  Symptoms include: Skin that bruises very easily, thin skin with visible small blood vessels, particularly on the upper chest and legs fragile blood vessels that can bulge or tear, resulting in serious internal bleeding, a risk of organ problems, such [metro.co.uk]

  Introduction The clinical diagnosis of Ehlers–Danlos syndrome type IV, the vascular type, is made on the basis of four clinical criteria: easy bruising, thin skin with visible veins, characteristic facial features, and rupture of arteries, uterus, or [nejm.org]

• Ulcer

  Type VIII First described by Stewart and others in 1977, 12 type VIII is characterized by generalized early-onset periodontitis and by large patches of scar tissue on the shins, similar to diabetic ulcers or varicose veins. [cda-adc.ca]

  Association of Ehlers-Danlos syndrome and solitary rectal ulcer syndrome. Indian J Gastroenterol. 2007 May-Jun. 26 (3):149-50. [Medline]. Savasta S, Crispino M, Valli M, Calligaro A, Zambelloni C, Poggiani C. [emedicine.medscape.com]

• Fear

  The fear of not being liked can control you. The fear of too many choices can be paralyzing. Big macro fears can take over your life. Fears make people think differently about themselves in the world. [inc.com]

  I feared that EDS sentenced me to a life of painful facades and condescending judgment. Thankfully, my will to live a quality life peeks through these bouts of depression. [themighty.com]

  And I am extremely grateful to the HMSA, the hypermobility clinic at UCH London, and my cardiologist for helping me learn to manage my condition, so that I can respect and understand it instead of fear it. [stickmancommunications.blogspot.com]

  Fear and Avoidance of Movement in People with Chronic Pain: Psychometric Properties of the 11-Item Tampa Scale for Kinesiophobia (TSK-11). Physiother Canada. 2012;64(3):235–41 DOI: http://dx.doi.org/10.3138/ptc.2011-10. Johnson SM, Robinson CM. [jomts.com]

  Some people with EDS have reported living with fears of significant and painful ruptures, becoming pregnant, [15] their condition worsening, becoming unemployed due to physical and emotional burdens, and social stigmatization in general. ^ James, William [dysautonomiaconnection.org]

• Headache

  Headaches, abdominal pain, and a sensitivity to the cold called Raynaud’s Disease are other common problems. The list is long and complicated by the fact that pain meds often don’t work on people with EDS. [complexchild.org]

  Headaches become a daily occurrence and some of them cause her to leave school early. She also begins to feel dizzy and “blacks out” with standing. [blog.cincinnatichildrens.org]

  Headaches. These manifestations may be more debilitating than the joint symptoms and often impair functionality and quality of life. [patient.info]

  Osteoporosis due to reduction in general bone bone density up to 0.9 standard deviations lowering than the average, healthy adult Scoliosis Kyphosis Chronic joint, ligament, tendon, or muscle pain due to myofascial and/or neuropathic source Headaches [physio-pedia.com]

  AVM can result in severe headaches, seizures, and increases a patient’s risk for stroke. [rarediseases.org]

(October 2018 editor’s note: I used to have another pre-diagnostic medical workup page linked from The Coalition Against Pediatric Pain here too, but it seems to have been deleted, sorry!) [ohtwist.com]

With regard to the lower limbs, a choice between conservative treatment vs. surgical treatment is an important step in the treatment process. [f1000research.com]

The medicines will usually be tested against another treatment called a control. This will either be a dummy treatment (a placebo) or a standard treatment already in use. [nhs.uk]

Our education and awareness programs focus attention on the need for accurate, early diagnosis and proper treatment of Marfan syndrome and related disorders. [charities.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

+ Treatment Treatments Improvement  In most cases there isn’t much  Joint strengthening can be that can be done. EDS can not done by working out with be cured. Physical therapy is weights. [slideshare.net]

The prognosis of the various EDS subtypes is based upon the specific associated features and their complications. synonyms Ehlers-Danlos Syndrome UMLS Cutis Elastica, Cutis hyperelastica, Cutis hyperelastica dermatorrhexis, Danlos disease, Dermatorrhexis [dermis.net]

The best treatment depends on the prognosis and current situation of the child. [f1000research.com]

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. [dysautonomiaconnection.org]

The prognosis with this type is poor. Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel. [emedicine.medscape.com]

The earlier interventions are in place, the better a child’s prognosis is. [complexchild.org]

Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. Sports Health. SAGE Publications; 2012;4(5):394–403 DOI: http://dx.doi.org/10.1177/1941738112452385. [jomts.com]

Blue sclera, short fingers, and short statue are also common in this form of EDS. 4 Potential Etiologies Ehlers-Danlos is said to be a genetic disorder. [morphopedics.wikidot.com]

Etiology and pathogenesis of heritable connective tissue diseases. J Pediatr Orthop 1993: 13(3):392-403. 23. Sacks H, Zelig D, Schabes G. [cda-adc.ca]

Biallelic mutations in FKBP14 may result in a recessive form of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, hearing loss, and, possibly, an increased risk for vascular complications. [13] Etiology Collagens are a family of proteins [emedicine.medscape.com]

A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome. [cda-adc.ca]

Epidemiology Ehlers-Danlos Syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. Ehlers Danlos affects both males and females of all racial and ethnic backgrounds. [dysautonomiaconnection.org]

Epidemiology Frequency The prevalence of Ehlers-Danlos syndrome (EDS) is reported to be 1 case in approximately 400,000 people, but mild or incomplete forms appear to be underdiagnosed and more common than other forms. [emedicine.medscape.com]

Epidemiology of Ehlers-Danlos syndromes [ 4 ] Prevalence of EDS is usually quoted as about 1/5,000 for all types, with hEDS hypermobility type accounting for about half of all registered cases: however, hEDS is an underdiagnosed condition; a frequency [patient.info]

CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. [acgcasereports.gi.org]

Clinical recognition of the various types of Ehlers-Danlos syndrome is important, which is particularly true for the vascular type, as it is associated with arterial rupture and visceral perforation, with possible life-threatening consequences. [10] Pathophysiology [emedicine.medscape.com]

Joint hypermobility syndromes: The pathophysiologic role of tenascin‐X gene defects. Arthritis & Rheumatism. 2004 Sep 1;50(9):2742-9. Byers PH, Murray ML. Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology. [edswellness.org]

Preventive measures in EDS will include consequent protection of the eye from trauma and definite therapy of the dry eye syndrome. [dog.org]

Treatment of EDS typically consists of management of specific signs and symptoms of the condition as well as lifestyle adjustments to prevent injury/complications. [physio-pedia.com]

Prevention If you have a personal or family history of Ehlers-Danlos syndrome and you're thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders [mayoclinic.org]

Good technique during swimming is essential for this patient to prevent strain of the cervical and lumbar spine. [morphopedics.wikidot.com]

+ Gene Therapy Gene Therapy Gene Therapy in EDS  Gene therapy is an  Gene Therapy can be used and experimental technique used to is actually recommended for try and correct or prevent EDS. genetic disorders.  For carriers of EDS, if thinking  Gene [slideshare.net]