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]

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]

[…] 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]

• Pseudotumor

  Group of inherited disorders of the connective tissue; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues with bleeding and poor wound healing, calcified subcutaneous spheroids, and pseudotumors. [icd10data.com]

  Molluscoid pseudotumors (fleshy, heaped-up lesions associated with scars over pressure points such as the elbows and knees). [nature.com]

  EDS. [2] [4] [5] [6] [7] [12] Type Inheritance Previous Nomenclature Major Features Minor Features Laboratory Classic [5] [12] AD Type I/II Skin hyperextensibility (atrophic scarring) Joint hypermobility Smooth velvety skin Easy bruising Molluscoid pseudotumors [physio-pedia.com]

  Additional findings may include the formation of small, fleshy, skin growths called ‘molluscoid pseudotumors’ or hard, round, movable lumps under the skin called ‘calcified spheroids’. [rarediseases.org]

• Unconsciousness

  Thus, the somatosensory system mainly contributes to the sensorimotor map of body space in internal models, an unconscious process also called the “body schema” ( De Vignemont, 2010 ). [journal.frontiersin.org]

• 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]

• Constipation

  […] similar to joint hypermobility syndrome with symptoms including: joint hypermobility, loose, unstable joints that dislocate easily, joint pain and clicking joints, extreme tiredness, skin that bruises easily, digestive problems, such as heartburn and constipation [metro.co.uk]

  Intestinal tract: unexplained abdominal pain, IBS, constipation. In some types diverticulae, constipation or rupture, rectal prolapse. People may be more than usually prone to nausea and to travel sickness. [patient.info]

  Poor GI motility–everything from difficulty swallowing to reflux to gastroparesis to chronic constipation to IBS to functional GI disorders–are very common in EDS, because the digestive tract is largely made of connective tissue. [complexchild.org]

  You can also get gene mutations which is waht they have talked about us having, as we have a lot of other issues that many EDSers dont have such as severe slow transit constipation and other bowel issues. [essentialkids.com.au]

  […] with increased risk of developing infective endocarditis Gastrointestinal Functional Bowel Disorders (gastritis, irritable bowel syndrome, gastroesophageal reflux) occur in up to 50% of individuals with EDS High prevalence of GI reflux abdominal pain, constipation [physio-pedia.com]

• Chest Pain

  Hyperalgesia is commonly seen in children and adults with hypermobility EDS due their central nervous system being highly sensitized Cardiopulmonary Dysautonomia or Autonomic Dysfunction resulting in abnormal chest pain, palpitations at rest or with exertion [physio-pedia.com]

  Patients should immediately seek medical attention for any tearing chest pains. Classical-like (clEDS) clEDS is similar in clinical course to cEDS (described immediately above). Genetic causes of cEDS and clEDS differ (described below). [rarediseases.org]

• Arthritis

  For example, overly flexible joints can result in joint dislocations and early-onset arthritis. Fragile skin may develop prominent scarring. People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels. [mayoclinic.org]

  Arthritis Rheumatol. 2015; 67 (suppl 10). https://acrabstracts.org/abstract/postural-stability-in-adolescents-with-ehlers-danlos-syndrome-hypermobility-type-following-an-exercise-intervention/. [acrabstracts.org]

  Arthritis Rheum. 1988;31(7):918–22. Voermans NC, Knoop H, Bleijenberg G, van Engelen BG. Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment. [jomts.com]

  Some complications include:  Rupture in organs and major vessels  Rupture of the eyeball  Rupture of membranes in pregnancy  Arthritis  Joint pain 14. + Gene Therapy Gene Therapy Gene Therapy in EDS  Gene therapy is an  Gene Therapy can be used [slideshare.net]

• Hip Dislocation

  Results after treatment of a congenital hip dislocation (from Guinta et al. ) 5. [f1000research.com]

  + Hypermobility  Lose joints, joint dislocation, chronic joint pain and double- jointedness are most prominent in this type. [slideshare.net]

  Major criteria Congenital bilateral hip dislocation. Severe GJH, with multiple dislocations/subluxations. Skin hyperextensibility. Minor criteria Muscle hypotonia. Kyphoscoliosis. Radiologically mild osteopenia. [patient.info]

  dislocation; Severe GJH, with multiple dislocations/subluxations; and Skin hyperextensibility. [ehlers-danlos.com]

  Congenital dislocation of the hips Talipes equinovarus (clubfoot) Gingival recession 3. [uwcpdx.org]

• Osteoporosis

  Each completed a demographic questionnaire as to environmental risk factors for osteoporosis. [ard.bmj.com]

  There was also generalized osteoporosis and supernumerary fingers that the authors have not found described in medical literature. In the familial antecedents there were thoracic alterarions of the same type, but they could not be studied. [archbronconeumol.org]

  Precursor and predisposition to early onset of osteoporosis due to abnormally low bone density. [physio-pedia.com]

  Merke et al. (18) described the phenotype of their CAH-X patients with TNX haploinsufficiency as hypermobile, with piezogenic papules, soft tissue rheumatism, hernia, spondylosis und functional bowel disorder, osteoporosis, cardiac abnormalities, and [edswellness.org]

  Osteopenia/osteoporosis. Blue sclerae. Hernia (umbilical or inguinal). Pectus deformity. Marfanoid habitus. Talipes equinovarus. Refractive errors (myopia, hypermetropia). [patient.info]

• 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]

• 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]

  […] 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]

  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]

  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]

• Striae Distensae

  This form has striae distensae which are usually absent in other forms of EDS. Petechiae occur because of the platelet defect. ▼ REFERENCES Arneson, M. A., Hammerschmidt, D. E., Furcht, L. T., King, R. A. [omim.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]

  […] such as striae distensae or rubrae Bilateral piezogenic papules of the heel Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosiderotic scars as seen in classical EDS Recurrent or multiple abdominal [hypermobility.org]

• Subcutaneous Nodule

  Ehlers-Danlos syndrome a congenital hereditary syndrome of joint hyperextensibility, hyperelasticity and fragility of the skin, poor wound healing leaving parchment-like scars, capillary fragility and subcutaneous nodules after trauma. [medical-dictionary.thefreedictionary.com]

• Clumsiness

  Clues to the reason for my clumsiness In more recent years, my body was besieged by an incessant, widespread, bone-deep aching pain. [health.harvard.edu]

  Dysautonomia- typically, but certainly not always, POTS Gastro-intestinal dysfunction- food intolerances and allergies, gastroparesis, EoE, irritable bowel Psychological complications- ADHD, depression, anxiety, eating disorders Poor proprioception- Clumsy [chronicpainpartners.com]

  skin Tissue fragility Poor wound healing resulting in elongated scarring (cigarette paper scars) Joint hypermobility Increased propensity for joint subluxations/disclocations Muscle weakness Delayed motor development Easy bruising Fatigue Frequent clumsiness [physio-pedia.com]

  Consequently, the major functional disabilities expressed by these patients, including clumsiness and falls, which sometimes lead to kinesiophobia, could be the result of this somatosensory impairment ( Rombaut et al., 2012 ). [journal.frontiersin.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]