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Brittle Cornea Syndrome Type 2


Presentation

  • 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]
  • 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]
  • 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]
Surgical Procedure
  • Kanellopoulos AJ, Pe LH: An alternative surgical procedure for the management of keratoglobus. Cornea. 2005, 24: 1024-6. 10.1097/01.ico.0000157411.31566.a7. PubMed CrossRef 34.[springermedizin.de]
  • In addition, affected individuals may be prone to experiencing certain complications during and after surgical procedures, such as separation of the layers of a surgical wound (dehiscence).[rarediseases.org]
  • PubMed View Article Google Scholar Kanellopoulos AJ, Pe LH: An alternative surgical procedure for the management of keratoglobus. Cornea. 2005, 24: 1024-6. 10.1097/01.ico.0000157411.31566.a7.[ojrd.biomedcentral.com]
Swelling
  • […] through the lower layer of the skin leading to small painful lumps called Piezogenic papules; blue, cold, and sweaty (but not painful) skin due to constriction of blood vessels that return to normal – called Acrocyanosis; and, Chilblains, red and painful swellings[hypermobility.org]
  • Swelling of legs and hands, which is common in pregnancy but tends to be worse in EDS. Carpal tunnel syndrome , which is common in pregnancy in EDS. Women with EDS - may be more than usually prone to morning sickness .[gowerstreetpractice.org.uk]
Broad Thumb
  • 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 test 布若地-春德倫堡氏試驗[sheethub.com]
Heart Murmur
  • Sometimes there are problems with the heart valves , which can become floppy, causing a heart murmur. Management of cEDS The main way in which management of cEDS differs from hEDS is in the need to protect the fragile skin.[gowerstreetpractice.org.uk]
High Arched Palate
  • Systemic Features: Skin laxity with easy bruisability, pectus excavatum, scoliosis, congenital hip dislocation, a high arched palate, mitral valve prolapse and recurrent shoulder dislocations are often present.[disorders.eyes.arizona.edu]
Macrocephaly
  • Syndrome, Type VIa, Formerly EDS6 EDS6A, FORMERLY 225400 Genetic Test Registry Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Dermatosparaxis Ehlers-Danlos Syndrome, Dermatosparaxis Type EDS 7C EDS VIIC 225410 Genetic Test Registry MACS Syndrome Macrocephaly[ukgtn.nhs.uk]
  • Cadle RG, Hall BD, Waziri M (1985) Phenotypic Ehlers-Danlos type VI with normal lysyl hydroxylase activity and macrocephaly. Am J Hum Genet 37: A48 Google Scholar 8.[link.springer.com]
Hyperextensible Joints
  • Signs & Symptoms Classical (cEDS) cEDS (formerly EDSI and EDSII) is associated with the primary problems described above, skin hyperextensibility, joint laxity, and fragile blood vessels. Scars are very thin, discolored, and stretch with time.[rarediseases.org]
Brittle Hair
  • hair 脆髮 55802556 brittle nail 脆甲 55802557 broad band light source 寬頻光源 55802558 broad foot 闊足 55802559 broad hepatic ligament 肝闊韌帶 55802560 broad ligament 闊韌帶 55802561 broad ligament abscess 子宮闊韌帶膿腫 55802562 broad ligament of liver 肝闊韌帶 55802563 broad[sheethub.com]
Blue Sclera
  • 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]
  • A familial trait associated with blue sclera. Am J Ophthalmol 66: 67–69 Google Scholar 27.[link.springer.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]
  • 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]
  • 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]
Blue Sclera
  • 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]
  • A familial trait associated with blue sclera. Am J Ophthalmol 66: 67–69 Google Scholar 27.[link.springer.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]
  • 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]
  • 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]
Ataxia
  • 55802561 broad ligament abscess 子宮闊韌帶膿腫 55802562 broad ligament of liver 肝闊韌帶 55802563 broad ligament of lung 肺闊韌帶 55802564 broad ligament 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[sheethub.com]
  • CHD) Visceral Heterotaxy ACVRL1 (ALK1) Activin A Receptor, Type II-Like 1 Pulmonary Arterial Hypertension (PAH) ADCK3 AarF Domain Containing Kinase 3 Congenital Heart Diseases (CHD) Primary Coenzyme Q10 Deficiency 4 Autosomal Recessive Spinocerebellar Ataxia[bcm.edu]
Aphasia
  • 肝闊韌帶 55802560 broad ligament 闊韌帶 55802561 broad ligament abscess 子宮闊韌帶膿腫 55802562 broad ligament of liver 肝闊韌帶 55802563 broad ligament of lung 肺闊韌帶 55802564 broad ligament 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[sheethub.com]

Treatment

  • 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]

Prognosis

  • 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]

Etiology

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

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