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2.1
Ehlers-Danlos Syndrom Classic Type 2
Ehlers-Danlos Syndrome Type 2

Presentation

The presently reported ultrastructural findings are in line with such concept. The present study represents the first attempt using skin ultrastruture for distinguishing EDSH and JHS from FM. [omicsonline.org]

Hypermobile Ehlers-Danlos presents with very similar symptoms to the classic form of the syndrome – the loose joints, susceptibility to bruising, muscle pain and fatigue, and heart valve issues. [fdna.health]

Inheritance: Autosomal dominant Age of onset: Infancy, Neonatal ICD-10: Q79.6 OMIM: 130010 UMLS: C0268336 MeSH: C536195 GARD: - MedDRA: - Summary This disease is described under Ehlers-Danlos syndrome, classic type The documents contained in this web site are presented [orpha.net]

Acronym EDSSPD2 Synonyms EDSP2 Ehlers-Danlos syndrome, progeroid type, 2 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Hematological

  • 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]

    Symptoms - Ehlers-Danlos syndrome type 2 * Narrow maxilla * Velvety skin * Hyperextensible skin * Fragile skin * Poor skin wound healing * Small moveable subcutaneous spherules * Hypermobile hands * Hypermobile feet * Flat feet * Easy bruising * Mitral [checkorphan.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]

    Other symptoms, similar to hypermobility type, may include easy bruising, joints that dislocate easily, joint pain, fatigue, and muscle cramping. There is no cure for classical type EDS; it is a life-long condition that requires close monitoring. [diseaseinfosearch.org]

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

Workup

[…] each elbow >10° (1 point each) forward flexion of trunk with palms on floor and knees fully extended (1 point) Imaging Radiographs look for joint dislocations/subluxations kyphoscoliosis Echocardiogram cardiac evaluation with echo is mandatory in the workup [orthobullets.com]

The initial workup after diagnosis of EDS should focus on determining the extent to which the underlying pathology affects the body. [ncbi.nlm.nih.gov]

Treatment

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

Treatment for EDS Treatment isn’t widely available. For most patients treatment is limited to medications that control the symptoms listed above. [ehlersdanlossyndrome.org]

She started progressively on a treatment with Modopar (62,5mg q3d). [symbiosisonlinepublishing.com]

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]

Prognosis

Prognosis - Ehlers-Danlos syndrome type 2 Not supplied. Treatment - Ehlers-Danlos syndrome type 2 Not supplied. Resources - Ehlers-Danlos syndrome type 2 Not supplied. [checkorphan.org]

Prognosis EDS may predispose individuals to a greater risk of open globe with ocular trauma. [eyewiki.aao.org]

Prognosis is heavily dependant on the type or classification of EDS that the patient has. Severe cases can be fatal but for the most part these individuals live a normal average life. [ehlersdanlossyndrome.org]

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

Due to different clinical symptoms, natural history and prognosis, EDS type IV should be assessed separately within the group of EDS. [ojrd.biomedcentral.com]

Etiology

[…] have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors (calcified hematomas) may be associated with scars Inheritance Autosomal dominant single-gene disorder Etiology [en.wikibooks.org]

Etiology Cause varies according to the specific subtype of EDS, but many genes relating to collagen structure and formation have been identified, mostly involving collagen types I, III, and V.[2] Several classification structures have been proposed, starting [eyewiki.aao.org]

The usual medical culture perceives a disease as an entity that has an etiological basis, which presents a characteristic clinical picture, and which requires appropriate treatment. [avensonline.org]

Ongoing controversies regarding etiology, diagnosis, treatment Neurosurgical complications, including Chiari malformation, craniocervical instability and cervical instability, as well as occult tethered cord, have only recently been associated with Ehlers-Danlos [clinicaladvisor.com]

Etiology, diagnosis, and treatment implications. Sports Health 4(5): 394-403. Full text on PubMed. 5. Beighton P et al. (1969) Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients. [forgottendiseases.org]

Epidemiology

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 Frequency International Worldwide, more than 1.5 million people are diagnosed with Ehlers-Danlos syndrome (EDS). EDS (all types combined) is reported to have a 1 in 5,000-10,000 population frequency. [emedicine.medscape.com]

Etiology and epidemiology of preterm premature rupture of the membranes. Clin Perinatol. 2001; 28 :721-34. | Article | PubMed Mercer BM. Preterm premature rupture of the membranes. [hoajonline.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]

Epidemiology The Ehlers-Danlos syndromes are a group of hereditary disorders of connective tissue, whose prevalence is estimated between 1/10,000 and 1/25,000, with no ethnic predisposition. [ojrd.biomedcentral.com]

Pathophysiology

Reflections on the pathophysiology We estimate that the alteration in proprioception plays a large part in the clinical manifestation of EDS. [symbiosisonlinepublishing.com]

Pathophysiology Electron microscopy in EDS reveals disruption of the collagen fibrils, their appearance typically described as “collagen flowers”.[3] Classical EDS is caused by mutations to COL5A1 and COL5A2, which leads to abnormal fibrillar assembly [eyewiki.aao.org]

Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability. [emedicine.medscape.com]

Jahan F, Nanji K, Qidwai W, Qasim R (2012) Fibromyalgia syndrome: an overview of pathophysiology, diagnosis and management. Oman Med J 27: 192-195. [omicsonline.org]

Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency. [soar-rd.shinshu-u.ac.jp]

Prevention

Prevention - Ehlers-Danlos syndrome type 2 Not supplied. Diagnosis - Ehlers-Danlos syndrome type 2 signs and symptoms of Ehlers-Danlos syndrome type II may vary on an individual basis for each patient. [checkorphan.org]

In additional, there are several steps you can take to prevent injury. [healthline.com]

If you have vascular or regular EDS with severe symptoms that prevent you from working, you may be able to get disability. [disabilitysecrets.com]

As veins and arteries can be more fragile in EDS, keeping blood pressure down can help prevent complications and ruptures. [belmarrahealth.com]

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet. 2010 Oct 30;376(9751):1476-84. doi: 10.1016/S0140-6736(10)60960-9. Epub 2010 Sep 7. [clinicaltrials.gov]

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