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]

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]

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]

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]

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]

• Arachnodactyly

  Dental crowding or high or narrow palate Arachnodactyly (fingers & toes, long and slender), Steinberg Sign (thumb beyond palm), Walker-Murdoch sign (thumb overlapping fifth finger around wrist) Arm span to height ≥ 1.05 MVP Aortic root dilation Part B [normanmarcuspaininstitute.com]

  […] without predisposing medical condition Marfanoid features: Dental crowding and high or narrow palate Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria Arm span-to-height ≥1.05 AND/OR upper segment/lower segment ratio Arachnodactyly [hypermobility.org]

  Long, slender fingers (arachnodactyly). Unusually long arms. Floppy mitral (heart) valve. Stretched aortic (heart) valve. B: you have a close family member diagnosed with EDS. [gowerstreetpractice.org.uk]

  Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg's sign) on both sides; (ii) positive thumb sign (Walker's sign) on both sides. Arm span-to-height ratio ≥1.05. [patient.info]

  Age-Related Macular Degeneration Type 3 (ARMD3) FBN1 Fibrillin-1 Marfan Syndrome (MFS) Neonatal Marfan Syndrome Isolated Skeletal Features of Marfan Syndrome Autosomal Dominant Ectopia Lentis Aortic Aneurysm FBN2 Fibrillin-2 Congenital Contractural Arachnodactyly [bcm.edu]

• Tall Stature

  Both OI and Marfan syndrome have cardinal clinical features which are not characteristically seen in BCS: in OI, a history of recurrent and sometimes spontaneous fractures, and in Marfan syndrome, tendency to aortic dissection, tall stature and ectopia [ojrd.biomedcentral.com]

• Tachycardia

  (CPVT) CALM2 Calmodulin 2 Long QT Syndrome (LQTS) Catecholamine-induced Polymorphic Ventricular Tachycardia (CPVT) CALR3 Calreticulin 3 Familial Hypertrophic Cardiomyopathy 19 Syncope CASQ2 Calsequestrin 2 Catecholamine-induced Polymorphic Ventricular [bcm.edu]

  Some of these include sleep disturbance, fatigue, postural orthostatic tachycardia, functional gastrointestinal disorders, dysautonomia, anxiety, and depression. [raredr.com]

  T - tibia; F - fibula; V - vastus intermedius 14 EDS-HT Cardiopulmonary Features4 Dysautonomia most clinically relevant – orthostatic intolerance, postural tachycardia syndrome most common form Mild mitral, tricuspid, & aortic valve regurgitation (25% [slideplayer.com]

  Postural tachycardia syndrome (causing fast heart rate, dizziness and fainting). Gastrointestinal disorders (unexplained abdominal pain, IBS, constipation). Anxiety, depression, panic disorder. Urinary dysfunction. Tendency to nausea. [patient.info]

• Hip Dislocation

  Arthrochalasia EDS Major criteria are: Congenital bilateral hip dislocation; Severe GJH, with multiple dislocations/subluxations; and Skin hyperextensibility. There are five minor criteria. [raredr.com]

  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]

  Major criteria Congenital bilateral hip dislocation. Severe GJH, with multiple dislocations/subluxations. Skin hyperextensibility. Minor criteria Muscle hypotonia. Kyphoscoliosis. Radiologically mild osteopenia. [patient.info]

  dislocation; Severe GJH, with multiple dislocations/subluxations; and Skin hyperextensibility. [ehlers-danlos.com]

  Other (non skin) features akin to other forms of EDS may also be found such as hip dislocation and clubfoot. The major causes for concern in this condition arise because of fragility of the blood vessels, gut wall, and uterus. [hypermobility.org]

• Thin Skin

  […] hypermobile EDS (hEDS) loose joints easy bruising muscle pain muscle fatigue chronic degenerative joint disease premature osteoarthritis chronic pain heart valve problems Symptoms of vascular EDS fragile blood vessels thin skin transparent skin thin [healthline.com]

  Cardiac-valvular EDS Major criteria are: Severe progressive cardiac-valvular problems (aortic valve, mitral valve); Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and Joint hypermobility (generalized or restricted [raredr.com]

  Major criteria are: Severe progressive cardiac-valvular problems (aortic valve, mitral valve); Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and Joint hypermobility (generalized or restricted to small joints). [ehlers-danlos.com]

  Other features include early varicose veins, premature skin ageing on the hands and feet, and fine, thinning hair. [patient.info]

• Alopecia

  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, Alopecia [ukgtn.nhs.uk]

• Blue Sclera

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

  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]

  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]

  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]

  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]

• Ectopia Lentis

  Lentis Aortic Aneurysm FBN2 Fibrillin-2 Congenital Contractural Arachnodactyly FGD1 FYVE, RhoGEF And PH Domain Containing 1 Congenital Heart Diseases (CHD) Aarskog-Scott syndrome. [bcm.edu]

• Short Nose

  Her facial appearance is reminiscent of several other patients with BCS, with a short nose, but otherwise unremarkable morphology. Several naevi are present over her cheeks and the lesions on her forehead are small scabs. [ojrd.biomedcentral.com]

• Confusion

  I was so confused," Mahmood says. "I just wanted to stay by myself thinking about how I'm going to get over it." [theglobeandmail.com]

  Symptoms of Ehlers-Danlos Syndrome often include, but are not limited to: joint hypermobility (not to be confused with flexibility, as people can be hypermobile without being flexible and vice versa— hypermobile joints are loose or unstable and slip or [edswellness.org]

  "There is tremendous confusion [about KTS]," said Dr. John Mulliken, co-director of Vascular Anomalies Center at Children's Hospital Boston. "These patients used to be medical nomads. No one doctor can take care of these patients." [abcnews.go.com]

  These are not always present, and in particular may not be striking in adult carriers, but nonetheless can cause diagnostic confusion, particularly in multiply consanguineous families where there may be potentially at-risk individuals across several generations [ojrd.biomedcentral.com]

• Seizure

  Brain researchers believe such seizures can occur when the part of the brain that processes emotions associated with a certain type of music overlap with areas of the brain that trigger seizures. [abcnews.go.com]

  Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a child has begun to develop vision problems or seizures. … Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorders) March 12, 2018 by Peter Ciszewski [checkrare.com]

  AVM can result in severe headaches, seizures, and increases a patient’s risk for stroke. [rarediseases.org]

• Cervical Incompetence

  Other manifestations of tissue extensibility include hiatus hernia, childhood anal prolapse, cervical incompetence and postoperative hernias. [patient.info]

  incompetence, resulting in second trimester pregnancy loss (IV:4, BCS-001) have each been observed in individuals with mutations in PRDM5 [ 3 ]. [ojrd.biomedcentral.com]

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]

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]

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

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]