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Ehlers Danlos Syndrome Classic Type

EDS I


Presentation

  • Deficiency or alteration of the collagen present in the tissues results in some classic signs such as skin hyper extensibility, joint hypermobility, and vascular fragility.[ncbi.nlm.nih.gov]
  • View Video: Classical EDS – an overview Presenter Dr Nigel Burrows, Consultant Dermatologist, Addenbrooke's Hospital, Cambridge Summary The genetics, signs and symptoms of classical EDS.[ehlers-danlos.org]
  • This report presents the rare combination of classic and vascular type of EDS primarily presenting as muscle weakness and associated with facial and trigeminal motor weakness.[neurologyindia.com]
Easy Bruising
  • Abstract Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility[ncbi.nlm.nih.gov]
  • Easy bruising is common. Joint hypermobility is the primary clinical manifestation.[nature.com]
  • Other symptoms, similar to hypermobility type, may include easy bruising, joints that dislocate easily, joint pain, fatigue, and muscle cramping. There is no cure for classical type EDS; it is a life-long condition that requires close monitoring.[diseaseinfosearch.org]
  • Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising.[researchgate.net]
Fatigue
  • Other symptoms, similar to hypermobility type, may include easy bruising, joints that dislocate easily, joint pain, fatigue, and muscle cramping. There is no cure for classical type EDS; it is a life-long condition that requires close monitoring.[diseaseinfosearch.org]
  • Muscle cramps and fatigue are common. Although less common, there can be cardiovascular problems such as mitral and tricuspid valve prolapse, aortic root dilatation, and spontaneous rupturing of large arteries.[thinkgenetic.com]
  • While some people experience no symptoms, many experience fatigue, abdominal pain, nausea, and jaundice.[findzebra.com]
  • As the years went on, Emily increasingly struggled with fatigue and frequent injuries.[care.com]
  • Past history also revealed chronic musculoskeletal pain, syncope, fatigue, and hypermobility of joints. Subsequent referral to a geneticist confirmed mild classic EDS.[surgicalneurologyint.com]
Short Stature
  • Symptoms INHERITANCE: Autosomal dominant GROWTH: [Height]; Short stature HEAD AND NECK: [Face]; Narrow maxilla; [Ears]; Hypermobile; Lop ears; [Eyes]; Myopia; Blue sclerae; Ectopia lentis; Epicanthal folds; [Mouth]; Small, irregularly placed teeth CARDIOVASCULAR[findzebra.com]
  • ATP6V0A2 Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome B3GALT6 Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures B3GAT3 Multiple joint dislocations, short[asperbio.com]
  • Skin is extremely thin (veins can be seen easily through the skin) and there are distinctive facial characteristics (large eyes, thin nose, lobeless ears, short stature and thin scalp hair). Clubfoot may be present at birth.[verywellhealth.com]
Eczema
  • SYMPTOM LIST Migraines, allergies, hay fever, asthma, eczema, varicose veins, positive Gorlin’s sign (ability to touch your nose with your tongue), IBS, gastric reflux, hernias, diverticulitis, bendy joints or hyper flexibility soft skin, easy bruising[learnaboutyourpain.com]
Blue Sclera
  • Symptoms INHERITANCE: Autosomal dominant GROWTH: [Height]; Short stature HEAD AND NECK: [Face]; Narrow maxilla; [Ears]; Hypermobile; Lop ears; [Eyes]; Myopia; Blue sclerae; Ectopia lentis; Epicanthal folds; [Mouth]; Small, irregularly placed teeth CARDIOVASCULAR[findzebra.com]
  • Epicanthic folds, microcornea, blue sclera, ectopia lentis and angioid streaks have also been associated, though less commonly [ 4 , 5 ].[link.springer.com]
  • sclerae, Micrognathia, Myopia, Easy bruising, Dislocations, Chronic articular pain (knees) AN_002521 son of M/7 Doughy A (5/9) Hypotonia at birth, Blue sclerae, Micrognathia, Easy bruising, Dislocations AN_002522 son of M/35 A - (3/9) Blue sclerae, Micrognathia[ojrd.biomedcentral.com]
  • In classic EDS, they include the following: Facial features that may occur in classic EDS Epicanthal folds on the eyes Blue sclerae Micrognathia (small jaw) Retrognathia (receding lower jaw) Highly arched palate EDS type 1 and EDS type 2 The classic form[forgottendiseases.org]
  • sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile skin (tearing of the skin), stretchy skin, easy bruising, joint hypermobility[uwcpdx.org]
Frequent Blinking
  • A patient suffering from foreign body sensation, frequent blinking and bilateral inferior conjunctivochalasis was referred and treated by topical ocular lubrication.[ncbi.nlm.nih.gov]
  • Case presentation A patient suffering from foreign body sensation, frequent blinking and bilateral inferior conjunctivochalasis was referred and treated by topical ocular lubrication.[link.springer.com]
Foreign Body Sensation
  • A patient suffering from foreign body sensation, frequent blinking and bilateral inferior conjunctivochalasis was referred and treated by topical ocular lubrication.[ncbi.nlm.nih.gov]
  • He reported a 12 month history of foreign body sensation causing frequent troublesome blinking. He had no symptoms suggestive of inflammatory ocular disease.[link.springer.com]

Treatment

  • No treatment for the underlying defect is presently available for Ehlers-Danlos syndrome. However, a series of preventive guidelines are applicable.[ncbi.nlm.nih.gov]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • There is no “cure” for EDS, but there are treatments to help with many of the symptoms. Since EDS can affect people in different ways, the treatment is tailored to each person. Most types of EDS are inherited in an autosomal dominant manner.[cincinnatichildrens.org]
  • If you or your child has been diagnosed with classical type EDS, talk to your doctor about the most current treatment options. A genetic counselor can be helpful to discuss inheritance and risks to other family members.[diseaseinfosearch.org]

Prognosis

  • Progress and Prognosis of EDS While prognosis depends on the type of the syndrome, early diagnosis certainly increases the life span and improves life quality.[lecturio.com]
  • Prognosis The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy in all other types is normal.[ehlersdanlos.ca]
  • What is the Prognosis of Classic Ehlers-Danlos Syndrome? (Outcomes/Resolutions) The prognosis of Classic Ehlers-Danlos Syndrome is determined by the severity of the condition and the overall health of the affected individual.[dovemed.com]
  • Prognosis is heavily dependant on the type or classification of EDS that the patient has. Severe cases can be fatal but for the most part these individuals live a normal average life.[ehlersdanlossyndrome.org]

Etiology

  • Etiology of EDS Ehlers-Danlos syndrome caused by gene mutations More than a dozen gene mutations have been found in association with EDS. The classical type of the disease is a consequence of mutation in either COL5A1 or COL5A2 gene.[lecturio.com]
  • Etiology Marfan syndrome Mutation of fibrillin-1 gene (FBN1) on chromosome 15 defective connective tissue microfibrils defective elastin Autosomal dominant inheritance pattern with variable penetrance Ehlers-Danlos syndrome Various mutations in genes[amboss.com]
  • Etiology, diagnosis, and treatment implications. Sports Health 4(5): 394-403. Full text on PubMed. 5. Beighton P et al. (1969) Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients.[forgottendiseases.org]
  • Ongoing controversies regarding etiology, diagnosis, treatment Neurosurgical complications, including Chiari malformation, craniocervical instability and cervical instability, as well as occult tethered cord, have only recently been associated with Ehlers-Danlos[cancertherapyadvisor.com]

Epidemiology

  • Epidemiology of EDS While mild or incomplete forms are more common but undiagnosed, the prevalence of EDS is 1 in 400.000 people. It is often diagnosed in childhood and has no racial predominance.[lecturio.com]
  • 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]
  • A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome.[cda-adc.ca]
  • Recurrent headaches in children: An epidemiological survey of two middle schools in inner city Chicago. Pain Pract. 2010. 10: 214-21 15. Pasquini M, Celletti C, Berardelli I, Roselli V, Mastroeni S, Castori M.[surgicalneurologyint.com]
Sex distribution
Age distribution

Pathophysiology

  • Other gene mutations include: TNXB (small percentage in hypermobility type) COL3A1 (vascular type) PLODA1 (kyphoscoliosis type) COL1A1, COL1A2 (arthrochalasia type) ADAMTS2 (dermatosparixis) Pathophysiology of EDS The inherited group of disorders is a[lecturio.com]
  • Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability.[emedicine.medscape.com]
  • Meller D, Tseng SC: Conjunctivochalasis: literature review and possible pathophysiology. Surv Ophthalmol. 1998, 43 (3): 225-232. 10.1016/S0039-6257(98)00037-X. CrossRef PubMed Google Scholar 7.[link.springer.com]
  • Pathophysiology [ edit ] Clinically it can be difficult to differentiate between EDS and BJHS and they can often be considered to be the same.[en.wikibooks.org]

Prevention

  • However, a series of preventive guidelines are applicable.[ncbi.nlm.nih.gov]
  • However, a series of preventive guidelines are applicable. Keywords : Ehlers-Danlos syndrome classic type; collagen; COL5A1; COL5A2; genetics; natural history; molecular testing; management -RR[invisibleillnessforum.com]
  • Treatment and management is focused on preventing serious complications and relieving associated symptoms."[thezebranetwork.org]

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