Presentation
[…] have both been used to treat social anxiety… (More) Artur V Vasconcelos 2010 Three modifications of the symmetric algebra of a module are introduced and their arithmetical and homological properties studied… (More) Traian Dogaru, Lawrence Carin 2002 We present [semanticscholar.org]
We will be recording all presentations, and will live streaming portions of Wellapalooza 2016 (not full presentations) and live tweeting during the conference. [hypermobileyogi.com]
There are some further, little seen types of Ehlers Danlos syndrome, as follows: EDS Type VIII: This type is similar to the Classical Type, except that in addition it presents with periodontal friability. [rareconnect.org]
Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement. 130000, 130010 COL5A1, COL5A2, COL1A1 Vascular type 4 Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately [intelligentdental.com]
[…] kyphoscoliotic form (previously known as EDS VI) is a generalized connective tissue disorder characterized by friable, hyperextensible skin, thin scars, and easy bruising; generalized joint laxity; severe muscular hypotonia at birth; progressive scoliosis, present [findzebra.com]
Entire Body System
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Disability
Bilateral microphthalmos ; Cataract ; Cigarette-paper scars ; Decreased muscle mass ; Excessive skin wrinkling on dorsum of hands and fingers ; Genu recurvatum ; Hearing impairment ; Hip dislocation ; Hyperextensible skin ; Inguinal hernia ; Intellectual disability [m.mousephenotype.org]
Ears: hearing loss Head And Neck Eyes: cataracts small eyes Clinical features from OMIM: 608763 Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 32 (show all 15) # Description HPO Frequency HPO Source Accession 1 intellectual disability [malacards.org]
[…] syndrome; pseudo-torch syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: UMLS ORPHANET OMIM More info about PSEUDO-TORCH SYNDROME 1; PTORCH1 Low match [mendelian.co]
Chromosome abnormalities occur in approximately: More information Chapter 4: Eligibility Categories 23 Chapter 4: Eligibility Categories In this chapter you will: learn the different special education categories 24 IDEA lists different disability categories [docplayer.net]
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Inguinal Hernia
Symptoms via clinical synopsis from OMIM: 57 Genitourinary External Genitalia Male: inguinal hernia Muscle Soft Tissue: decreased muscle mass Skeletal Pelvis: hip dislocation Skin Nails Hair Skin: excessive skin wrinkling on dorsum of hands and fingers [malacards.org]
hernia ; Intellectual disability ; Joint laxity ; Narrow face ; Narrow palpebral fissure ; Pes planus Associated Genes - Mouse Orthologs - Source OMIM:608763 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI [m.mousephenotype.org]
hernia Broad ribs Chronic lung disease Ureteropelvic junction obstruction Failure to thrive Ptosis Respiratory insufficiency Craniosynostosis Death in infancy Round face Rhizomelia Delayed gross motor development Delayed cranial suture closure Respiratory [mendelian.co]
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Internal Bleeding
bleeding and other potentially life-threatening complications. [ncbi.nlm.nih.gov]
Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliotic, classical, and classical-like types, can cause unpredictable tearing (rupture) of blood vessels, leading to internal bleeding and other potentially [ghr.nlm.nih.gov]
Jaw & Teeth
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Periodontitis
Ehlers-Danlos Syndrome, Cardiac Valvular Form EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 Ehlers-Danlos Syndrome, Musculocontractural Type 1 Ehlers-Danlos Syndrome, Musculocontractural Type 2 EHLERS-DANLOS SYNDROME, PERIODONTAL [rgd.mcw.edu]
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree. Am. J. Med. Genet. 155A: 742-747, 2011. [4] Arneson, M. A., Hammerschmidt, D. E., Furcht, L. T., King, R. A. [checkorphan.org]
The periodontal type causes abnormalities of the teeth and gums. [from GHR ] more IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]
There are some further, little seen types of Ehlers Danlos syndrome, as follows: EDS Type VIII: This type is similar to the Classical Type, except that in addition it presents with periodontal friability. [rareconnect.org]
The classical, vascular, arthrochalasia, and periodontal forms of the disorder, and likely the hypermobile type, have an autosomal dominant pattern of inheritance. [ghr.nlm.nih.gov]
Musculoskeletal
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Hip Dislocation
Symptoms via clinical synopsis from OMIM: 57 Genitourinary External Genitalia Male: inguinal hernia Muscle Soft Tissue: decreased muscle mass Skeletal Pelvis: hip dislocation Skin Nails Hair Skin: excessive skin wrinkling on dorsum of hands and fingers [malacards.org]
Classification unclassified Phenotypes Autosomal recessive inheritance ; Bilateral microphthalmos ; Cataract ; Cigarette-paper scars ; Decreased muscle mass ; Excessive skin wrinkling on dorsum of hands and fingers ; Genu recurvatum ; Hearing impairment ; Hip [m.mousephenotype.org]
Clinical description The disease is marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Other signs include hyperextensible skin, fragile tissues with atrophic scars, and muscular hypotonia. [orpha.net]
Minimal criteria for aEDS are congenital bilateral hip dislocation (major criterion 1) plus either: skin hyperextensibility (major criterion 3); or severe GJH (major criterion 2) with at least two minor criteria. [ehlers-danlos.com]
Formerly called EDS type VII, the distinguishing feature is congenital hip dislocation. Severe joint hypermobility with recurrent dislocations and subluxations are common, which may lead to early and/or severe osteoarthritis. [orthohoda.blogspot.com]
Eyes
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Small Eyes
eyes Clinical features from OMIM: 608763 Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 32 (show all 15) # Description HPO Frequency HPO Source Accession 1 intellectual disability 32 HP:0001249 2 inguinal hernia 32 HP:0000023 [malacards.org]
Ears
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Hearing Impairment
AND CATARACT Classification unclassified Phenotypes Autosomal recessive inheritance ; Bilateral microphthalmos ; Cataract ; Cigarette-paper scars ; Decreased muscle mass ; Excessive skin wrinkling on dorsum of hands and fingers ; Genu recurvatum ; Hearing [m.mousephenotype.org]
impairment 32 HP:0000365 4 cataract 32 HP:0000518 5 pes planus 32 HP:0001763 6 decreased muscle mass 32 HP:0003199 7 genu recurvatum 32 HP:0002816 8 joint laxity 32 HP:0001388 9 hip dislocation 32 HP:0002827 10 narrow face 32 HP:0000275 11 hyperextensible [malacards.org]
Diseases related with Hearing impairment and Joint laxity In the following list you will find some of the most common rare diseases related to Hearing impairment and Joint laxity that can help you solving undiagnosed cases. [mendelian.co]
Psychiatrical
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Anxiety Disorder
Journal of anxiety disorders 2016 Disorder-specific (DS-CBT) and transdiagnostic (TD-CBT) cognitive behaviour therapy have both been used to treat social anxiety… (More) Artur V Vasconcelos 2010 Three modifications of the symmetric algebra of a module [semanticscholar.org]
Face, Head & Neck
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Narrow Face
face Head And Neck Ears: hearing loss Head And Neck Eyes: cataracts small eyes Clinical features from OMIM: 608763 Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 32 (show all 15) # Description HPO Frequency HPO Source Accession [malacards.org]
face ; Narrow palpebral fissure ; Pes planus Associated Genes - Mouse Orthologs - Source OMIM:608763 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models [m.mousephenotype.org]
Treatment
PubMed Treatment of interferon-alpha for chronic hepatitis C. Treatment of interferon-alpha for chronic hepatitis C. Expert Opin Pharmacother. 2006 Jun;7(9):1163-79. PubMed Your browsing activity is empty. Activity recording is turned off. [ncbi.nlm.nih.gov]
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]
Utting MR, Mulford JS, Eldridge JDJ (2008) A prospective evaluation of trochleoplasty for the treatment of patellofemoral dislocation and instability. [springermedizin.de]
Physicians may refer a patient to an orthotist for orthotic treatment (bracing). [en.scio.pw]
Treatment is supportive, including close monitoring of the digestive, excretory, and particularly the cardiovascular systems. [piglix.com]
Prognosis
[…] doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century. [3] Contents 1 Classification 1.1 Other types 2 Signs and symptoms 3 Genetics 4 Diagnosis 4.1 Differential diagnosis 5 Management 6 Prognosis [scribd.com]
Prognosis The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. [dysautonomiaconnection.org]
[…] effects: some degree of Dysautonomia or Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis [orthohoda.blogspot.com]
Some individuals have mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, particularly dental surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve [wikidoc.org]
Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis [mail.diseases-diagnosis.com]
Etiology
The initial chapters discuss surgical anatomy of hernias, incidence and etiology, diagnosis and anaesthesia. The following sections are each dedicated to a different type of hernia and its surgical management. [books.google.com]
Etiology Arthrochalasic EDS is due to abnormal maturation of the alpha1 (I) (former type VIIA) or alpha2 (I) (former type VIIB) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. [orpha.net]
Epidemiology
Summary Epidemiology The incidence of the arthrochalasic form (formerly divided into types VIIA and VIIB) is very low. [orpha.net]
Epidemiology and Demographics The overall prevalence of all types of Ehlers-Danlos syndrome may be about 1 in 5,000 births worldwide. The prevalence of the six types differs dramatically. [wikidoc.org]
Epidemiology Ehlers-Danlos Syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. Ehlers Danlos affects both males and females of all racial and ethnic backgrounds. [dysautonomiaconnection.org]
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]
Please refer to the summary for each type of Ehlers-Danlos syndrome for a discussion of its inheritance pattern. [ edit ] Epidemiology Ehlers-Danlos Syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. [orthohoda.blogspot.com]
Pathophysiology
Systemic Lupus Erythematosus Harvard-MIT Division of Health Sciences and Technology HST.021: Musculoskeletal Pathophysiology, IAP 2006 Course Director: Dr. Dwight R. [docplayer.net]
Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability. [emedicine.medscape.com]
305200 -- Type 5 130080 -- Type 8 - unspecified gene, locus 12p13 225310 -- Type 10 - unspecified gene, locus 2q34 608763 -- Beasley-Cohen type 130070 -- Progeroid form - B4GALT7 606408 -- Due to Tenascin-X deficiency - TNXB 130090 -- Type unspecified Pathophysiology [wikidoc.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. Glycobiology 28: 80-89, 2018. [shinshu-u.ac.jp]
Prevention
Physical therapy, bracing, and corrective surgery may help with injuries and pain that tend to develop in certain types of EDS, although extra caution and special practices are advised to prevent permanent damage. EDS is a long term syndrome. [piglix.com]
This can help with stabilizing the joints and preventing injury. [en.scio.pw]
Physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS, although extra caution is advised and special practices should be observed to prevent permanant damage. [intelligentdental.com]
However, many symptoms can be prevented or treated as they arise and individuals can lead healthy, active, and fulfilling lives. [edswellness.org]