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]

The previous EDS Type VIII is similar to the Classical Type, except that in addition it presents with periodontal friability. The existence of this syndrome as an autonomous entity remains uncertain. [ehlers-danlos.com]

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]

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]

• Disability

  […] 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]

  Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 31 (show all 15) # Description HPO Frequency HPO Source Accession 1 intellectual disability 31 HP:0001249 2 hearing impairment 31 HP:0000365 3 cataract 31 HP:0000518 4 inguinal hernia [malacards.org]

  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]

  […] wrinkling on dorsum of hands and fingers Hyperextensible skin Abnormality of the musculoskeletal system Cigarette-paper scars Decreased muscle mass Genu recurvatum Hip dislocation Inguinal hernia Joint laxity Abnormality of the nervous system Intellectual disability [ncbi.nlm.nih.gov]

• Inguinal Hernia

  Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 31 (show all 15) # Description HPO Frequency HPO Source Accession 1 intellectual disability 31 HP:0001249 2 hearing impairment 31 HP:0000365 3 cataract 31 HP:0000518 4 inguinal hernia [malacards.org]

  Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  [from GHR] more Show allHide all Abnormality of head or neck Narrow face Narrow palpebral fissure Abnormality of limbs Genu recurvatum Hip dislocation Pes planus Abnormality of the digestive system Inguinal hernia Abnormality of the eye Bilateral microphthalmos [ncbi.nlm.nih.gov]

  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]

• Internal Bleeding

  These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. [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]

• Collapse

  Pes planus MedGen UID: 42034 •Concept ID: C0016202 • Anatomical Abnormality An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

  Other common features include club foot; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); recession of the gums; and a decreased amount of fat under [en.scio.pw]

• Intestinal Perforation

  These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. [ncbi.nlm.nih.gov]

• Hearing Impairment

  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]

  Human phenotypes related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: 31 (show all 15) # Description HPO Frequency HPO Source Accession 1 intellectual disability 31 HP:0001249 2 hearing impairment 31 HP:0000365 3 cataract 31 HP:0000518 4 inguinal hernia [malacards.org]

  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 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]

• Small Eyes

  cataracts small eyes Clinical features from OMIM®: 608763 (Updated 05-Apr-2021) Articles related to Ehlers-Danlos Syndrome, Beasley-Cohen Type: # Title Authors PMID Year 1 A new presumably autosomal recessive form of the Ehlers-Danlos syndrome. 57 477010 [malacards.org]

  Bilateral microphthalmos MedGen UID: 334420 •Concept ID: C1843496 • Congenital Abnormality A congenital abnormality characterized by the presence of two abnormally small eye globes. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

• Narrow Face

  […] of hands and fingers 31 HP:0007407 Symptoms via clinical synopsis from OMIM®: 57 (Updated 05-Apr-2021) Genitourinary External Genitalia Male: inguinal hernia Muscle Soft Tissue: decreased muscle mass Head And Neck Face: narrow face Skin Nails Hair Skin [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]

  [from GHR] more Show allHide all Abnormality of head or neck Narrow face Narrow palpebral fissure Abnormality of limbs Genu recurvatum Hip dislocation Pes planus Abnormality of the digestive system Inguinal hernia Abnormality of the eye Bilateral microphthalmos [ncbi.nlm.nih.gov]

  Narrow face MedGen UID: 373334 •Concept ID: C1837463 • Finding Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

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]

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]

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]

[…] 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]

PMID: 30630391 Prognosis Baderkhan H, Wanhainen A, Stenborg A, Stattin EL, Björck M Eur J Vasc Endovasc Surg 2021 Feb;61(2):326-331. Epub 2020 Nov 20 doi: 10.1016/j.ejvs.2020.10.020. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

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]

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]

Hyperextensible skin Abnormality of the musculoskeletal system Cigarette-paper scars Decreased muscle mass Genu recurvatum Hip dislocation Inguinal hernia Joint laxity Abnormality of the nervous system Intellectual disability Ear malformation Hearing impairment Etiology [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

Summary Epidemiology The incidence of the arthrochalasic form (formerly divided into types VIIA and VIIB) is very low. [orpha.net]

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. [en.academic.ru]

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 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]

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]

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]