However, in D4ST1-deficiency, the decorin GAG is completely replaced by CS, whereas in DS-epi1-deficiency, still some DS moieties are present. [ncbi.nlm.nih.gov]

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]

• Respiratory Distress

  The causes of death, available for five patients, were respiratory distress shortly after birth, a bacterial infection of the bloodstream (septicemia) due to a scalp hemorrhage at age 12, inflammation of the heart due to infection at 28 years, perforation [ehlersdanlosnews.com]

  Cause of death was available for five patients: respiratory distress shortly after birth, septicaemia due to scalp haemorrhage at age 12 years, infective endocarditis at 28 years, colonic perforation at 37 years and intracerebral haemorrhage at 59 years [jmg.bmj.com]

• Hearing Impairment

  Strabismus, refractive errors, and elevated intraocular pressure, as well as hearing impairment are common in these patients. Patients present with muscle hypoplasia and weakness, and there is evidence for an underlying myopathy. [oxfordmedicine.com]

  impairment ; Hiatus hernia ; High palate ; Hydronephrosis ; Hyperalgesia ; Hyperextensible skin ; Hypertelorism ; Intellectual disability ; Intestinal malrotation ; Joint dislocation ; Joint laxity ; Large fontanelles ; Long philtrum ; Microcornea ; [mousephenotype.org]

  impairment Low-set ears Posteriorly rotated ears Protruding ear 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]

  Both also had hearing impairment of high-pitched sounds, recurrent urinary tract infections with an enlarged or atonic bladder, and constipation. [omim.org]

• Hirsutism

  Hirsutism. Tooth abnormalities. Refractive errors (myopia, astigmatism). Strabismus. Kyphoscoliotic Ehlers-Danlos syndrome [ 7, 14 ] Kyphoscoliotic EDS (kEDS) is a rare, autosomal recessive EDS which has been described only around 60 times. [patient.info]

  Other skin features included widely spaced nipples (n=8); soft, smooth, doughy and/or velvety skin (n=8); thin and/or translucent skin (n=6); single transverse palmar creases, hirsutism, finger nail abnormalities (small, double-layered), molluscoid pseudotumors [jmg.bmj.com]

• Blue Sclera

  sclerae ; Brachycephaly ; Broad forehead ; Bruising susceptibility ; Cleft palate ; Constipation ; Cryptorchidism ; Delayed cranial suture closure ; Diastasis recti ; Distal arthrogryposis ; Downslanted palpebral fissures ; Ecchymosis ; Facial asymmetry [mousephenotype.org]

  sclerae, thin and hyperelastic skin, muscle atrophy Recessive SLC39A13 Comprehensive EDS Panel Please consult the Ehlers-Danlos Syndrome Test Guide for more information. [uwcpdx.org]

  Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB Fragilitas Oculi With Joint Hyperextensibility BCS1 EDS6B 229200 Genetic Test [ukgtn.nhs.uk]

  sclerae Glaucoma Hypertelorism Microcornea Myopia Retinal detachment Strabismus Abnormality of the genitourinary system Cryptorchidism Hydronephrosis Nephrotic syndrome Abnormality of the immune system Recurrent skin infections Abnormality of the integument [ncbi.nlm.nih.gov]

  sclerae and fragile, hyperextensible skin. [omim.org]

• Muscle Hypotonia

  Besides progressive kyphoscoliosis, muscle hypotonia, joint hypermobility, hyperextensible skin, and myopathy, sensorineural hearing loss is especially characteristic for this type of EDS. [medical-genetics.de]

  Congenital muscle hypotonia; 2. Congenital or early onset kyphoscoliosis (progressive or non-progressive); and 3. [raredr.com]

  Myopathic EDS (mEDS) Major criteria are: Congenital muscle hypotonia, and/or muscle atrophy, that improves with age; Proximal joint contractures (knee, hip and elbow); and Hypermobility of distal joints. There are four minor criteria. [ehlers-danlos.com]

  It causes congenital muscle hypotonia, and/or muscle atrophy, that improves with age. There may be joint contractures or hypermobility. [patient.info]

  thin skin, easy bruising, atrophic scarring, joint hypermobility Recessive CHST14 Comprehensive EDS Panel EDS with progressive kyphoscoliosis, myopathy, and hearing loss Severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, elastic [uwcpdx.org]

• Foot Deformity

  deformities, TMJ dysfunction, low muscle ton e, hernias, early osteoarthritis and degenerative discs, various GI problems and allergies, chronic headaches, eye problems, dysautonomia (i.e. [edswellness.org]

  The disorder is characterized by progressive multisystem fragility-related manifestations (skin hyperextensibilty and fragility, progressive spinal and foot deformities, large subcutaneous hematoma) and various malformations (facial features, congenital [link.springer.com]

  Conclusion DD-EDS is a newly recognized and delineated form of EDS, characterized by progressive multisystem fragility-related manifestations (skin hyperextensibilty and fragility, progressive spinal and foot deformities, large subcutaneous hematoma) [intechopen.com]

  Foot orthosis is recommended for talipes deformities and early intervention (physiotherapy) is recommended for motor developmental delay associated with muscle hypotonia. [jmg.bmj.com]

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

• Hyperalgesia

  Downslanted palpebral fissures ; Ecchymosis ; Facial asymmetry ; Flat forehead ; Fragile skin ; Generalized hypotonia ; Generalized joint laxity ; Glaucoma ; Global developmental delay ; Hearing impairment ; Hiatus hernia ; High palate ; Hydronephrosis ; Hyperalgesia [mousephenotype.org]

  0002761 Glaucoma 0000501 Global developmental delay 0001263 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hiatus hernia Stomach hernia 0002036 High palate Elevated palate Increased palatal height [ more ] 0000218 Hydronephrosis 0000126 Hyperalgesia [rarediseases.info.nih.gov]

• Nephrolithiasis

  […] the bladder 0000009 Glaucoma 0000501 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hydronephrosis 0000126 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Nephrolithiasis [rarediseases.info.nih.gov]

  The patient also had bilateral nephrolithiasis, a unilateral inguinal hernia, and bilateral cryptorchidism. [intechopen.com]

  The patient had bilateral nephrolithiasis, unilateral inguinal hernia, and bilateral cryptorchidism. [omim.org]

  Top 5 symptoms associated to CHST14 gene Symptoms // Phenotype % Cases Autosomal recessive inheritance Very Common - Between 80% and 100% cases Nephrolithiasis Very Common - Between 80% and 100% cases Hyperextensible skin Very Common - Between 80% and [mendelian.co]

Consensus is that conservative treatment is more effective than surgery, particularly since patients have extra risks of surgical complications due to the disease. [checkorphan.org]

More Types of Ehlers-Danlos syndrome, musculocontractural type » Genetics of Ehlers-Danlos syndrome, musculocontractural type Diagnosis See also related information on diagnosis: Diagnosis of Ehlers-Danlos Syndrome Treatments See also the following treatment [familydiagnosis.com]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

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]

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling. [mayocliniclabs.com]

[…] and bracing may help strengthen muscles and support joints. 3 While some disorders result in a normal life expectancy, those that affect blood vessels generally result in a shorter life expectancy. 5 edss affect about 1 in 5,000 people globally. 1 The prognosis [stotmo.jeuk.amsterdam]

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]

Recognising clinical symptoms as belonging to the EDS and classifying them as a given EDS type is prerequisite for clinical prognosis, specific therapy, and official acceptance as severe handicap. [nature.com]

(Ehlers-Danlos Syndrome) Etiology Genetic mutations (either inherited or spontaneous) are the underlying reason for this syndrome. The defective genes are usually passed on from one or both parents to the child. [news-medical.net]

They reported another patient with ATCS, a boy aged 3 months, from a consanguineous Turkish family including three affected siblings who died of unknown etiology between the ages of 1 and 4 months [ 9 ]. [intechopen.com]

(Etiology) Ehlers-Danlos Syndrome, Arthrochalasia Type is caused by mutation(s) in the COL1A1 or COL1A2 genes. These genes code for type 1 collagen, which is found in abundance in the human body. [dovemed.com]

Although the precise etiology of the syndrome remains unknown, it is ex- tremely important for the physician to recognize the patient with Sandifer s y n d r o m e. [dokumen.tips]

The genetic etiology of another rare form of EDS associated with PH was established by recognition of the similarity of the neurology features with that of PH due to FLNA mutations.31 Mutations conferring loss of function at the FLNA (encoding Filamin [zdoc.site]

[…] genetic disease - Rare neurologic disease - Rare renal disease - Rare skin disease - Rare surgical cardiac disease - Rare systemic or rheumatologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

[…] after birth, within a specific cell, are a hallmark of cancer and are called ‘somatic cancer mutations’.1 Mutations that are present in every cell, either because they have been inherited or occur at conception, Author: Ahead, Division of Genetics and Epidemiology [kipdf.com]

[…] adc.bmj.com/content/early/2014/07/01/archdischild-2013-304822.full.html#ref-list-1This article cites 25 articlesPCollectionsTopic (190 articles)Surgical diagnostic tests (198 articles)Surgery (371 articles)Screening (public health) (371 articles)Screening (epidemiology [vdocuments.mx]

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]

Deficiency has been epidemiologically associated with cardiovascular disease, clear molecular mechanisms are, however, missing [ 44 ]. Diagnosis of Vitamin D is fairly cheap and oral substitution with cholecalciferol well tolerated. [ojrd.biomedcentral.com]

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 ( IF 3.664 ) Pub Date : 2017-12-01, DOI: 10.1093 [x-mol.com]

It participated in different pathophysiological processes such as cardiovascular disease, tumorigenesis, inflammation, injury repair, and fibrosis (Malfait et al., 2010; Janecke et al., 2016; Mizumoto et al., 2017). [frontiersin.org]

Pathophysiology of D4ST1-deficient EDS 3.1. [intechopen.com]

Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. 2012; 20(1):4-7. [invitae.com]

The medical history infusion Pump with minimum compliance revealed postprandial regurgitation during the (Arndorfer er a/. 1977). previous two months, but the torticollis could Case reports recognition Of the pathophysiology Of the occurring Over a 48 [dokumen.tips]

He is a board of the European Predictive, Preventive and Personalized Medicine Association (EPMA) and EPMA Journal. He has published more than 60 papers in reputed journals. [omicsonline.org]

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

Ehlers-Danlos Syndrome, Arthrochalasia Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

The loss of the decorin DS proteoglycan due to CHST14 mutations may prevent proper collagen bundle formation or maintenance of collagen bundles. [genetics.ouhsc.edu]