Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.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]

[…] their May 2016 symposium to define the diagnostic criteria for EDS-H; heck, I’ve read the Wikipedia page that says, “Negative genetic test results do not rule out the diagnosis, since not all of the mutations have been discovered; therefore the clinical presentation [themighty.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]

• Plethora

  […] the EDS has only become recognisable in the current generation of children (our DD plus a cousin) however the clinical geneticist that diagnosed DD pointed out there is a very clear history of EDS in my family tree with many relatives diagnosed with a plethora [essentialkids.com.au]

• Easy Bruising

  Showing of 9 Percent of people who have these symptoms is not available through HPO Atypical scarring of skin Atypical scarring 0000987 Autosomal recessive inheritance 0000007 Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more [rarediseases.info.nih.gov]

  Possible diagnosis of EDS type VIII: Clinical features of EDS VIII such as hyperextensible joints, atrophic scarring, and easy bruising can often overlap with other forms of EDS. [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]

• 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

  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]

  Alternative titles; symbols FN ABNORMALITY EHLERS-DANLOS SYNDROME, TYPE X EDS X; EDS10 EHLERS-DANLOS SYNDROME, DYSFIBRONECTINEMIC TYPE SKIN, NAILS, & HAIR Skin - Skin hyperextensibility [UMLS: C0241074 HPO: HP:0000974 ] [HPO: HP:0000974 UMLS: C0241074 ] - Thin [omim.org]

  skin Dominant C1S, C1R Peridontal, Type VIII Musculocontractural Type Craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, hypotonia, thin skin, easy bruising, atrophic scarring, joint hypermobility [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]

• Petechiae

  Easy bruising [ more ] 0000978 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Mitral valve prolapse 0001634 Petechiae [rarediseases.info.nih.gov]

  Petechiae occur because of the platelet defect. REFERENCES Arneson, M. A., Hammerschmidt, D. E., Furcht, L. T., King, R. A. A new form of Ehlers-Danlos syndrome: fibronectin corrects defective platelet function. JAMA 244: 144-147, 1980. [omim.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]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

Treatment involves managing symptoms. It also includes learning how to protect your joints and prevent injuries. [icd10data.com]

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

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]

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]

It also includes learning how to protect your joints and prevent injuries. [icd10data.com]

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]

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 therapy [slideshare.net]

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]