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]

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]

In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3). [dovepress.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]

  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]

• Hair Hypoplasia

  KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN, TRPM4 Del Dup NGS Cardiac valvular dysplasia, X-linked FLNA Del Dup NGS Cartilage-hair [ctgt.net]

• Phenylketonuria

  Multiple sclerosis Cystic Fibrosis Ehlers-Danlos syndrome, hypermobility type Parkinson disease Phenylketonuria Huntington disease Ehlers-Danlos syndrome, classic type Duchenne Muscular Dystrophy Neurofibromatosis, type 1 Retinitis pigmentosa Ehlers-Danlos [genefo.com]

[…] 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]

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 - 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 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]

Prognosis in the Ehlers Danlos syndromes [ 7 ] Prognosis will vary with the type and the severity. Lifespan is usually normal, with the exception of the vascular type. [patient.info]

[…] 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]

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]

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]

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]

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

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 - 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]