When the first two major criteria are present in the individual at birth or during early childhood or when the first and third major criteria are present in adolescents and adults, mcEDS is suggested. [news-medical.net]

All patients presented with blue sclerae. Joint laxity was present in 20 patients; especially prominent in the small joint of the hands and fingers. [cags.org.ae]

We present 23 patients (11 male) from 13 nuclear families followed at the King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, aged 3-28 years at last follow-up. [zora.uzh.ch]

A first description of PRDM5 expression in the human eye is also presented in chapter 4. In chapter 5, a potential role for PRDM5 in retinal vasculogenesis is suggested. [ethos.bl.uk]

Presents a detailed exposition of the growing number of techniques for lamellar keratoplasty, including outcomes. Includes new sections on the latest developments in the management of ocular surface disease. [books.google.de]

• Broad Thumb

  […] of uterus 子宮闊韌帶 55802565 broad thumb-hallux syndrome 寬拇指─腳拇趾症候群 55802566 Broca's aphasia 布洛卡氏失語症 55802567 Broca's ataxia Broca運動失調 55802568 Brock syndrome 布拉克氏症候群 55802569 Broder's grading 布若德氏分級 55802570 Brodi's ligament Brodi氏韌帶{肱骨橫韌帶} 55802571 Brodie-Trendelenburg [sheethub.com]

• Blue Sclera

  A familial trait associated with blue sclera. Am J Ophthalmol 66: 67–69 Google Scholar 27. [link.springer.com]

  Abstract The brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture following only minor trauma, keratoconus or keratoglobus, blue sclerae, hyperelasticity of the skin without excessive fragility, and [zora.uzh.ch]

  Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). Abstract A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. [bjo.bmj.com]

  All patients presented with blue sclerae. Joint laxity was present in 20 patients; especially prominent in the small joint of the hands and fingers. [cags.org.ae]

  Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Get Update Overview Brittle cornea syndrome (BCS ) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. [diseaseinfosearch.org]

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 Treatment Options: Treatment for specific defects such as joint dislocations and mitral valve malfunction may be helpful. [disorders.eyes.arizona.edu]

Steps towards saving children’s sight Posted: 10 September 2018 10:35 am Research funded by Action has taken significant steps towards a new treatment approach that could revolutionise the treatment of cataracts, especially in children. [action.org.uk]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Current treatment options for EDS include: physical therapy (used to rehabilitate those with joint and muscle instability) surgery to repair damaged joints drugs to minimize pain Additional treatment options may be available depending on the amount of [healthline.com]

The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis. [zora.uzh.ch]

Causes - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Prevention - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Diagnosis - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Prognosis - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis EDS [checkorphan.org]

Diagnosis and Prognosis: Diagnosis generally requires a multidisciplinary team of specialists. [disorders.eyes.arizona.edu]

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]

To date, the exact etiology of KC is still unclear. The present results suggest a possible role for ZNF469 in patients with KC in the Chinese population. [molvis.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.de]

Relevant External Links for ZNF469 Genetic Association Database (GAD) ZNF469 Human Genome Epidemiology (HuGE) Navigator ZNF469 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ZNF469 No data available for Genatlas for ZNF469 Gene Prediction [genecards.org]

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]

Bialasiewicz A, Edward DP (2013) Corneal ectasias: study cohorts and epidemiology. Middle East Afr J Ophthalmol 20: 3-4. [omicsonline.org]

This population-based study, designed to investigate the genetics and epidemiology of ocular disease, recruited 3654 individuals living in a defined geographical region in the Blue Mountains (west of Sydney, Australia). [journals.plos.org]

Despite extensive studies, the pathophysiology of KC remains unknown and complex. Multiple environmental and genetic factors are thought to be involved in the development of KC. [molvis.org]

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

Causes - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Prevention - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Diagnosis - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Prognosis - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis EDS [checkorphan.org]

Measures to prevent corneal rupture, such as wearing special protective glasses, may help delay vision loss. [rarediseases.info.nih.gov]

Research suggests new ways to prevent blindness Posted: 24 March 2010 15:41 pm Mucous membrane pemphigoid, or MMP, causes the body’s moist skin linings (mucous membranes) to blister. [action.org.uk]

gentle stretching, massage, prevention (pads), education, lifestyle recommendations, energy conservation 24 Questions? 25 References Castori M, Morlino S, Celletti C, et al. [slideplayer.com]