We present clinical and molecular findings of three patients with an EDS VIB phenotype from two consanguineous families. [scicrunch.org]

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]

Abstract : We present clinical and molecular findings of three patients with an EDS VIB phenotype from two consanguineous families. [hal.archives-ouvertes.fr]

Patients with ATCS present similar craniofacial and muscoloskeletal features as the EDS VIB patients reported here, but lack the severe skin manifestations. [orbi.uliege.be]

• Turkish

  A genome-wide SNP scan and sequence analyses identified a homozygous frameshift mutation (NM_130468.2:c.145delG, NP_569735.1:p.Val49*) in CHST14, encoding dermatan-4-sulfotransferase 1 (D4ST-1), in two Turkish siblings. [scicrunch.org]

  Additional features included facial dysmorphism and ocular involvement, with early-onset high myopia, glaucoma, and retinal detachment in the Turkish sisters, and microcornea, bulging eyes, and myopia in the Indian girl. [omim.org]

• Disproportionate Short Stature

  Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ANKH COL2A1 COL1A1 FBN1 SLC39A13 CTSK FAM20C FGFR3 COL10A1 PTPN11 More info about this panel Congenital Disorders of Glycosylation: Deletion/Duplication [mendelian.co]

• 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]

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

  impairment Deafness Hearing defect [ more ] 0000365 Hiatus hernia Stomach hernia 0002036 High palate Elevated palate Increased palatal height [ more ] 0000218 Hydronephrosis 0000126 Hyperalgesia 0031005 Hyperextensible skin Hyperelastic skin Skin hyperelasticity [rarediseases.info.nih.gov]

• 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]

• 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]

  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]

  The, ehlers, danlos, society 4 Spondylodysplastic eds (spEDS) characterized by short stature (progressive in childhood muscle hypotonia (ranging from severe congenital, to mild later-onset and bowing of limbs. 4 Musculocontractural eds (mcEDS) characterized [stotmo.jeuk.amsterdam]

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

• Withdrawn

  […] symbols: D4ST-1, D4ST1, HD4ST ) Mouse Orthologs Chst14 (Withdrawn symbols: 2600016L03Rik, D4st1 ) Source OMIM:601776 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes [mousephenotype.org]

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]

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]

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

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]

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]

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]

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]

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]

Joint hypermobility syndrome: the pathophysiologic role of tenascin-X gene defects. Arthritis Rheum 2004;50: 2742–2749. 52. Calderwood DA, Huttenlocher A, Kiosses WB, Rose DM, Woodside DG, Schwartz MA, et al. [zdoc.site]

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]