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]

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]

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]

• 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]

• 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]

• 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]

(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]

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]

Elastosis perforans serpiginosa, a skin condition of unknown etiology characterized by skin colored to erythematous keratotic papules, some enlarging outward in serpiginous or arcuate configurations, leaving slightly atrophic centers, rarely occurs. [nature.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]

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

+ 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]