The presently reported ultrastructural findings are in line with such concept. The present study represents the first attempt using skin ultrastruture for distinguishing EDSH and JHS from FM. [omicsonline.org]

When the first two major criteria are present in the individual at birth, during early childhood, or when the first and third major criteria are present in adolescents and adults, mcEDS is suggested. [news-medical.net]

Inheritance: Autosomal dominant Age of onset: Infancy, Neonatal ICD-10: Q79.6 OMIM: 130010 UMLS: C0268336 MeSH: C536195 GARD: - MedDRA: - Summary This disease is described under Ehlers-Danlos syndrome, classic type The documents contained in this web site are presented [orpha.net]

Acronym EDSSPD2 Synonyms EDSP2 Ehlers-Danlos syndrome, progeroid type, 2 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Pseudotumor

  […] or subcutaneous spheroids (see photos and discussion below) Flat feet Weakness Fatigue or easy loss of energy Cardiac problems in a minority of patients, including mitral valve problems and aortic root dilatation Flat feet Molluscoid pseudotumors (see [forgottendiseases.org]

  0000006 Cervical insufficiency 0030009 Dilatation of the cerebral artery 0004944 Foot acroosteolysis 0001842 Fragile skin Skin fragility 0001030 Hypermobility of distal interphalangeal joints Increased mobility of outermost hinge joint 0006201 Molluscoid pseudotumors [rarediseases.info.nih.gov]

  Group of inherited disorders of the connective tissue; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues with bleeding and poor wound healing, calcified subcutaneous spheroids, and pseudotumors. [icd10data.com]

  86 Complications of joint hypermobility 40 80 Easy bruising 38 76 Surgical complications 25 50 Positive family history 25 50 Manifestations of tissue extensibility and fragility 24 48 Muscle hypotonia, delayed gross motor development 12 24 Molluscoid pseudotumors [iovs.arvojournals.org]

  ½ of affected individuals are delivered up to 1 month premature due to premature rupture of fetal membranes Some have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors [en.wikibooks.org]

• Asymptomatic

  See this EDS Society slide for this explained in combination with the Beighton score and MSK involvement Type Beighton Score Musculoskeletal Involvement Notes Asymptomatic GJH Positive Absent Asymptomatic PJH Usually Negative Absent JH typically limited [specialneedsjungle.com]

  It is not uncommon for affected persons to remain asymptomatic well into the 5th and 6th decades. This seems to be particularly true of men, because of their increased muscle mass. [clinicaladvisor.com]

  There is a clinical spectrum ranging from asymptomatic joint hypermobility, through “non-syndromic” hypermobility with secondary manifestations, to hEDS. [ehlers-danlos.com]

  Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. [nejm.org]

  Asymptomatic, nonsyndromic joint hypermobility, Ehlers-Danlos syndrome, and hypermobility spectrum disorders (particularly the hypermobile type) are the commonest phenotypes associated with joint hypermobility. [ncbi.nlm.nih.gov]

• Inguinal Hernia

  […] swollen gums [ more ] 0000230 Hemoptysis Coughing up blood 0002105 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hypoplastic lacrimal duct Underdeveloped tear duct 0007900 Hypospadias 0000047 Inguinal [rarediseases.info.nih.gov]

  hernias Etiology Caused by failure to cleave off the amino-terminal propeptide of type I collagen due to deficiency of the procolagen I N-peptidase gene Inheritance Autosomal recessive Other Ehlers-Danlos Syndrome Variants [ edit ] Type VIII Rare autosomal [en.wikibooks.org]

  General: multiple fractures, “stretchy skin”, easy bruising, abnormal or atrophic scarring, hyperflexible joints, prolonged recovery from concussion[4], inguinal hernia, poor exercise tolerance, pain intolerance, psychiatric disturbance. [eyewiki.aao.org]

  Minor criteria Inguinal hernia. Pectus deformity (especially excavatum). Joint dislocations. Foot deformities: pes planus, pes planovalgus, hallux valgus. [patient.info]

• Fever

  Immunodeficiency Syndrome AD,AR 100% 5 of 5 RASGRP1 Autoimmune Lymphoproliferative Syndrome, Immunodeficiency AR 98.41% 8 of 9 RIN2 Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis, RIN2 Syndrome AR 99.60% 4 of 4 RIPK1 Autoinflammation With Episodic Fever [igenomix.es]

  […] individuals experiencing these complications by age 40 years. 2 Case Report A 15-year-old adolescent boy with a suspected bleeding disorder presented with a 4-day history of intermittent suprapubic pain, constipation, decreased appetite, and low-grade fevers [acgcasereports.gi.org]

  Kasapçopur O, Tengirsek M, Ercan G, Yologlu N, Caliskan S, et al. (2004) Hypermobility and fibromyalgia frequency in childhood familial Mediterranean fever. Clin Exp Rheumatol 22: 79. [omicsonline.org]

• Short Finger

  Blue sclera, short fingers, and short statue are also common in this form of EDS. 4 Potential Etiologies Ehlers-Danlos is said to be a genetic disorder. [morphopedics.wikidot.com]

  Other distinctive features are delayed closure of the fontanels, characteristic facies, edema of the eyelids, blue sclerae, umbilical hernia, short fingers, and short stature. [nature.com]

• Easy Bruising

  […] pain, easy bruising, easy bleeding, normal scars Dominant TNXB ( (Not available through CDL) Vascular Type (EDS type IV) Thin, translucent skin with visible veins; marked bruising; skin and joints have normal extensibility; arterial, bowel and uterine [uwcpdx.org]

  Symptoms - Ehlers-Danlos syndrome type 2 * Narrow maxilla * Velvety skin * Hyperextensible skin * Fragile skin * Poor skin wound healing * Small moveable subcutaneous spherules * Hypermobile hands * Hypermobile feet * Flat feet * Easy bruising * Mitral [checkorphan.org]

  Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues. [medicinenet.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]

  Easy Bruising Easy bruising is a common finding and manifests as spontaneous ecchymoses, frequently recurring in the same areas and causing a characteristic brownish discoloration of the skin, especially in exposed areas such as shins and knees. [ncbi.nlm.nih.gov]

• Abdominal Pain

  A 20-year-old female patient was referred to our hospital with abdominal pain. Computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid. [karger.com]

  Within a year, I was plagued with almost continual abdominal pain and an investigation revealed that the adhesions had spread and were sticking all my internal organs together. [notasadvertisedblog.com]

  Gastrointestinal disorders (unexplained abdominal pain, IBS, constipation). Anxiety, depression, panic disorder. Urinary dysfunction. Tendency to nausea. Generalised pain. Headaches. [patient.info]

  Places individual at an increased risk for development of an abdominal aortic aneurysm (AAA). [physio-pedia.com]

• Heart Failure

  Screening for structural abnormalities of the heart, such as aortic root and mitral valve abnormalities, should be conducted using echocardiography as these may require surgical intervention to avoid the complications of rupture or congestive heart failure [ncbi.nlm.nih.gov]

• Cutis Laxa

  […] recessive 1B EFEMP2 Del Dup NGS Cutis laxa, autosomal recessive IC LTBP4 Del Dup NGS Cutis laxa, autosomal recessive IIA ATP6V0A2 Del Dup NGS Cutis laxa, autosomal recessive IIIA ALDH18A1 Del Dup NGS Cutis laxa, autosomal recessive, type IIB & type IIIB [ctgt.net]

  laxa Autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Basal epidermolysis bullosa simplex Body [se-atlas.de]

  laxa AR 14 16 ELN Cutis laxa, Supravalvular aortic stenosis AD 78 113 FBLN5 Cutis laxa, Macular degeneration, age-related AD/AR 13 22 FBN1 MASS syndrome, Marfan syndrome, Acromicric dysplasia, Geleophysic dysplasia AD 1465 2679 FBN2 Congenital contractural [blueprintgenetics.com]

  Cutis laxa. Superficially, the stretchy skin found in most forms of EDS may be confused with cutis laxa type 1 and type 2, as stretchy skin is also a feature of these conditions. [forgottendiseases.org]

  Terms: Cutis Elastica Synonyms Brittle cornea syndrome Congenital anomaly of sclera Congenital kyphoscoliosis Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Cutis laxa, x-linked Disorder of copper metabolism Distal arthrogryposis [icdlist.com]

• Muscle Weakness

  Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. [malacards.org]

  Hypotonia or weakness of muscles and lack of muscle tone is a symptom of an underlying condition rather than a disease entity in itself. Therapy involves treating the symptoms as well as the underlying conditions. [news-medical.net]

  The kyphoscoliosis type is characterized by progressive curvature of the spine (scoliosis), thin conjunctiva with blue appearing sclera (eyes) and severe muscle weakness. [snpedia.com]

  There may be muscle weakness or low tone (hypotonia) perhaps manifesting in childhood as a delay in development of motor skills (e.g., holding head up, crawling, walking). [hypermobility.org]

  […] related to muscle tension in cervical spine and TMJ dysfunction Neuromuscular Low muscle tone (hypotonia) Generalized muscle weakness-- more likely due to a muscle dysfunction than atrophy and muscle loss Decreased reflexes in the knee extensors and flexors [physio-pedia.com]

• Foot Deformity

  Preoperative equinovarus deformity of the left foot and postoperative deformity reduction of the right foot of the girl at the age of two years and six months. Figure 6. [f1000research.com]

  Pectus deformity (especially excavatum). Joint dislocations. Foot deformities: pes planus, pes planovalgus, hallux valgus. [patient.info]

  Minor clinical criteria include non-cardiogenic lower extremity edema, mild muscle weakness, atrophy of hand and foot muscles, axonal polyneuropathy, foot deformities, and cavitary prolapse (uterine, vaginal, rectal).[2] Cardiac-valvular EDS involves [ncbi.nlm.nih.gov]

  Other problems related to the joint hypermobility are joint instability, foot deformities such as congenital clubfoot or pes planus, temporomandibular joint dysfunction, joint effusions, and osteoarthritis. [nature.com]

• Muscular Atrophy

  atrophy, distal, X-linked 3 XL 116 354 B4GALT7 Ehlers-Danlos syndrome, progeroid form AR 8 9 BGN Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome XL 8 7 CBS Homocystinuria due to cystathionine beta-synthase deficiency AR 88 205 CHST14 [blueprintgenetics.com]

  […] type l G12.1. - Spinal muscle atrohpy childhood form type ll G12.1 - Spinal muscle atrophy juvenile form type lll Synonyme: Spinal muscle atrophy type 1: Werdnig-Hoffmanns disease (SMA l) Spinal muscle atrophy type 2: Dubowitz disease (SMA ll) Spinal [orphananesthesia.eu]

• Brachydactyly

  […] without fractures; 脊椎骨端骨幹端異形成-関節弛緩 +/- 骨折 ） B3GALT6 SOS （Spondyloocular syndrome; 椎体眼症候群） XYLT2 SSMS (Seizures, scoliosis, and macrocephaly syndrome; 発作性巨頭側弯症) EXT2 TNPS （Tn polyagglutination syndrome, somatic; Tn 多凝集症候群） C1GALT1C1 TPBS (Temtamy preaxial brachydactyly [jcggdb.jp]

  Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly. [patient.info]

• Cesarean Section

  She was booked for an elective cesarean section at 36 weeks, and if spontaneous labour occurred prior to this, she was to have an emergency cesarean section. [hindawi.com]

  Some authors prefer cesarean section to minimize the risk of pelvic prolapse [ 2 ]. Because of abnormalities in wound healing, waiting time before suture stitches removal after cesarean or episiotomy may be doubled. [hoajonline.com]

  Although several pregnant women died of uterine rupture at term, we do not know whether the use of elective cesarean section would decrease mortality. [nejm.org]

  Despite these increased risks, it is unclear whether delivery via planned cesarean section over vaginal delivery to the patient or newborn is advantageous.[29] It is essential to note that any surgical procedures, including those necessary for the prevention [ncbi.nlm.nih.gov]

• Confusion

  Several avatars would come to stymie its identification to this day, despite its frequency, and foster confusion with other pathologies. [avensonline.org]

  Osteolysis Breakdown of bone 0002797 Periodontitis 0000704 Premature loss of primary teeth Early loss of baby teeth Premature loss of baby teeth [ more ] 0006323 Ptosis Drooping upper eyelid 0000508 Pulmonary artery aneurysm 0004937 Reduced consciousness/confusion [rarediseases.info.nih.gov]

  Superficially, the stretchy skin found in most forms of EDS may be confused with cutis laxa type 1 and type 2, as stretchy skin is also a feature of these conditions. [forgottendiseases.org]

  All very confusing. And that’s just one type of Ehlers-Danlos. But now, the world’s leading specialists in EDS have worked together with The EDS Society, to clarify the criteria for a diagnosis on the different types. [specialneedsjungle.com]

  These can be confused with seizure activity but the EEG remains normal - Restless leg syndrome at night, which sometimes evolves into very violent jerks - Bruxism, which we often encounter in EDS patients could be related to dystonia These dystonic contractions [symbiosisonlinepublishing.com]

• Polyneuropathy

  High frequency of neuropathic pain in Ehlers-Danlos syndrome: an association with axonal polyneuropathy and compression neuropathy? J Pain Symptom Manage. 2011; 41 :e4-6; author reply e6-7. | Article | PubMed Possover M and Forman A. [hoajonline.com]

  Axonal polyneuropathy. Atrophy of muscles in hands and feet. Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly. [patient.info]

  Minor clinical criteria include non-cardiogenic lower extremity edema, mild muscle weakness, atrophy of hand and foot muscles, axonal polyneuropathy, foot deformities, and cavitary prolapse (uterine, vaginal, rectal).[2] Cardiac-valvular EDS involves [ncbi.nlm.nih.gov]

[…] each elbow >10° (1 point each) forward flexion of trunk with palms on floor and knees fully extended (1 point) Imaging Radiographs look for joint dislocations/subluxations kyphoscoliosis Echocardiogram cardiac evaluation with echo is mandatory in the workup [orthobullets.com]

The initial workup after diagnosis of EDS should focus on determining the extent to which the underlying pathology affects the body. [ncbi.nlm.nih.gov]

With regard to the lower limbs, a choice between conservative treatment vs. surgical treatment is an important step in the treatment process. [f1000research.com]

Treatment for EDS Treatment isn’t widely available. For most patients treatment is limited to medications that control the symptoms listed above. [ehlersdanlossyndrome.org]

She started progressively on a treatment with Modopar (62,5mg q3d). [symbiosisonlinepublishing.com]

There is no cure for Ehlers-Danlos syndrome, but there are treatments to better help manage symptoms. The typical treatment is a combination of physical therapy and medication. [belmarrahealth.com]

Prognosis - Ehlers-Danlos syndrome type 2 Not supplied. Treatment - Ehlers-Danlos syndrome type 2 Not supplied. Resources - Ehlers-Danlos syndrome type 2 Not supplied. [checkorphan.org]

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]

The best treatment depends on the prognosis and current situation of the child. [f1000research.com]

Prognosis EDS may predispose individuals to a greater risk of open globe with ocular trauma. [eyewiki.aao.org]

Prognosis Prognosis varies considerably based on subtype and whether morbidity or mortality is a more significant consideration. Regarding morbidity, it correlates highly with the patient’s environment and subtype. [ncbi.nlm.nih.gov]

[…] have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors (calcified hematomas) may be associated with scars Inheritance Autosomal dominant single-gene disorder Etiology [en.wikibooks.org]

In our 2019 review of the literature, epidemiologic data based on the new 2017 classification system is minimal as most of the data is based on the 1997 nosology, in which genetic etiology was not yet a mainstay for diagnosis. [ncbi.nlm.nih.gov]

The usual medical culture perceives a disease as an entity that has an etiological basis, which presents a characteristic clinical picture, and which requires appropriate treatment. [avensonline.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 [clinicaladvisor.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]

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]

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]

In our 2019 review of the literature, epidemiologic data based on the new 2017 classification system is minimal as most of the data is based on the 1997 nosology, in which genetic etiology was not yet a mainstay for diagnosis. [ncbi.nlm.nih.gov]

Etiology and epidemiology of preterm premature rupture of the membranes. Clin Perinatol. 2001; 28 :721-34. | Article | PubMed Mercer BM. Preterm premature rupture of the membranes. [hoajonline.com]

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]

Reflections on the pathophysiology We estimate that the alteration in proprioception plays a large part in the clinical manifestation of EDS. [symbiosisonlinepublishing.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]

Pathophysiology Electron microscopy in EDS reveals disruption of the collagen fibrils, their appearance typically described as “collagen flowers”.[3] Classical EDS is caused by mutations to COL5A1 and COL5A2, which leads to abnormal fibrillar assembly [eyewiki.aao.org]

Jahan F, Nanji K, Qidwai W, Qasim R (2012) Fibromyalgia syndrome: an overview of pathophysiology, diagnosis and management. Oman Med J 27: 192-195. [omicsonline.org]

If they do, subtle signs and symptoms can be difficult to diagnose, and genetic testing is not indicated or pursued.[8][2][11][12] Pathophysiology The pathophysiology of most Ehlers Danlos syndrome subtypes involves heritable mutations in collagen synthesis [ncbi.nlm.nih.gov]

Prevention - Ehlers-Danlos syndrome type 2 Not supplied. Diagnosis - Ehlers-Danlos syndrome type 2 signs and symptoms of Ehlers-Danlos syndrome type II may vary on an individual basis for each patient. [checkorphan.org]

In additional, there are several steps you can take to prevent injury. [healthline.com]

If you have vascular or regular EDS with severe symptoms that prevent you from working, you may be able to get disability. [disabilitysecrets.com]

As veins and arteries can be more fragile in EDS, keeping blood pressure down can help prevent complications and ruptures. [belmarrahealth.com]

Prevention of Secondary Complications For recommendations on prevention of secondary manifestations of joint laxity and dislocations, see Hypermobile EDS, Management: Prevention of Secondary Complications. [ncbi.nlm.nih.gov]