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Ehlers-Danlos Syndrom Classic Type 2

EDS2


Presentation

  • 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]
  • 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]
  • Case report A 12-year-old girl presented to the Department of Dermatology at The Cleveland Clinic Foundation in January 1982, with a history of delayed wound healing, easy bruisability, and double-jointedness.[mdedge.com]
Tall Stature
  • CADASIL NGS panel HTRA1, NOTCH3 Del Dup NGS Caffey disease COL1A1 Del Dup NGS Campomelic dysplasia SOX9 Del Dup NGS Camptodactyly, tall stature, and hearing loss syndrome FGFR3 Del Dup NGS Camurati-Engelmann disease TGFB1 Del Dup NGS Cantu syndrome ABCC9[ctgt.net]
  • stature JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM,85(8):2927-2930 2000 Author:Ogata, T; Kosho, T; Wakui, K; Fukushima, Y; Yoshimoto, M; Miharu, N ターナー症候群を招く遺伝的機序 ホルモンと臨床,48:45-55 2000 Author:緒方 勤、室谷浩二、古庄知己 FISH解析が過剰マーカー染色体の同定に有用であった非典型的cat eye[soar-rd.shinshu-u.ac.jp]
Marfanoid Habitus
  • Marfanoid habitus. Talipes equinovarus. Refractive errors (myopia, hypermetropia). Skin fragility (easy bruising, friable skin, poor wound healing), widened atrophic scarring. Scleral and ocular fragility/rupture. Microcornea. Facial dysmorphology.[patient.info]
Easy Bruising
  • 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]
  • 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]
  • Possible diagnosis of EDS type VIII: Clinical features of EDS VIII such as hyperextensible joints, atrophic scarring, and easy bruising can often overlap with other forms of EDS.[uwcpdx.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]
  • Easy bruising is common. Joint hypermobility is the primary clinical manifestation.[nature.com]
Heart Disease
  • NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24 Del Dup NGS Congenital heart[ctgt.net]
  • Disease Ana Morales, Dawn C.[nature.com]
Hair Hypoplasia
  • KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NOS1AP, PKP2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN, TRPM4 Del Dup NGS Cardiac valvular dysplasia, X-linked FLNA Del Dup NGS Cartilage-hair[ctgt.net]
Frontal Bossing
  • Affiliated tissues include skin, and related phenotypes are hypertelorism and frontal bossing UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, musculocontractural type 2: A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations[malacards.org]
Phenylketonuria
  • Multiple sclerosis Cystic Fibrosis Ehlers-Danlos syndrome, hypermobility type Parkinson disease Phenylketonuria Huntington disease Ehlers-Danlos syndrome, classic type Duchenne Muscular Dystrophy Neurofibromatosis, type 1 Retinitis pigmentosa Ehlers-Danlos[genefo.com]

Workup

  • […] 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]

Treatment

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

  • 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]
  • Due to different clinical symptoms, natural history and prognosis, EDS type IV should be assessed separately within the group of EDS.[ojrd.biomedcentral.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]

Etiology

  • […] 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]
  • 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]
  • Genetic and molecular basis similar to EDSH might be considered as eventual candidates for the FM etiology. Distinctive clinical criteria for EDSH and FM remain crude and unsettled. Microscopy does not distinguish both conditions.[omicsonline.org]
  • 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]

Epidemiology

  • 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]
  • 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. Obstet Gynecol. 2003; 101 :178-93.[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]
  • Epidemiology The Ehlers-Danlos syndromes are a group of hereditary disorders of connective tissue, whose prevalence is estimated between 1/10,000 and 1/25,000, with no ethnic predisposition.[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Reflections on the pathophysiology We estimate that the alteration in proprioception plays a large part in the clinical manifestation of EDS.[symbiosisonlinepublishing.com]
  • 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]
  • Morbidity in EDS is related to the primary pathophysiology and includes dislocations, pain, or both from chronic joint laxity and instability.[emedicine.medscape.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.[soar-rd.shinshu-u.ac.jp]

Prevention

  • 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]
  • As veins and arteries can be more fragile in EDS, keeping blood pressure down can help prevent complications and ruptures.[belmarrahealth.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]
  • The patient should be monitored at all times to prevent dangerous aneurisms and cardiac trouble.[ehlersdanlossyndrome.org]

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