ORPHA:1485 Synonym(s): Johnston-Aarons-Schelley syndrome Prevalence: Inheritance: Unknown Age of onset: Neonatal ICD-10: - OMIM: 208158 UMLS: C1859710 MeSH: - GARD: 3053 MedDRA: - The documents contained in this web site are presented for information [orpha.net]

Seite 207 - Pettenati MJ, Haines JL, Higgins RR, Wappner RS, Palmer CG, Weaver DD: Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 cases and review of the literature. ‎ [books.google.de]

Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises $299 Million January 23, 2019 By Daniel S. [globalgenes.org]

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• Arthralgia

  Familial Cold Autoinflammatory Syndrome Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria (FCU), is an autosomal dominant condition characterized by rash, conjunctivitis, fever/chills and arthralgias elicited by exposure [aetna.com]

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Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

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]

[ edit ] The treatment of arthrogryposis includes occupational therapy, physical therapy, splinting and surgery. [3] The primary long-term goals of these treatments are increasing joint mobility, muscle strength and the development of adaptive use patterns [en.wikipedia.org]

In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects. [actasdermo.org]

These symptoms are all associated with Larsen syndrome, so they can be used to confirm that a fetus has the disorder. [7] Prognosis While Larsen syndrome can be lethal if untreated, the prognosis is relatively good if individuals are treated with orthopedic [ipfs.io]

Conclusions It is important to know about this disease and to distinguish it from others like keratinization malfunctions such as ichtyosis, congenital, developmental and akinesia disturbance, etc., to know the prognosis for the affected newborn and to [springermedizin.de]

Prognosis [ edit ] People with AMC look their worst at birth. AMC is considered non-progressive, so with proper medical treatment, things can improve. The joint contractures that are present will not get worse than they are at the time of birth. [en.wikipedia.org]

The presence of syndactyly seems to represent a different genetic variant of LQTS also associated with a poor prognosis. [aetna.com]

Arthrogryposis (Multiple Congenital Contractures): Diagnostic Approach to Etiology, Classification, Genetics, and General Principles. Eur J Med Genet 2014;57:464-472. Filges I, Hall JG. [rarediseases.org]

Swinyard CA, Bleck EE (1985) The etiology of arthrogryposis (multiple congenital contracture). Clin Orthop 194: 15–29 PubMed Google Scholar 14. Hall JG (1989) Arthrogryposis. Am Fam Physician 39: 113–119 PubMed Google Scholar 15. [link.springer.com]

Radiologicabnormalities include poorly mineralized cranial bones,overtubulation of the long bones, hypoplastic clavicleswith incomplete ossification and slender, ribbonlike ribs(15).The etiology of RD is unknown. [docslide.us]

The tautness of the skin causes fetal akinesia, which gives rise to generalized flexion contractures, facial dysmorphism like ‘‘o-shaped’’ mouth, and lunghypoplasia leading to earlydeath.These findings generate an etiologically heterogeneous condi- tion [myslide.es]

Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology. [aetna.com]

[…] erythroderma of Brock - Bullous ichthyosis - EHK - EI - Epidermolytic hyperkeratosis Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

"Arthrogryposis multiplexa congenita: An epidemiologic study of nearly 9 million births in 24 EUROCAT registers". European Journal of Obstetrics & Gynecology and Reproductive Biology. 159 (2): 347–50. doi : 10.1016/j.ejogrb.2011.09.027. [en.wikipedia.org]

This update contains new epidemiological data and modifications to existing data for which new information has been made available. [docplayer.net]

Therefore, these estimates are an indication of the assumed prevalence but may not «Disease names» AND Epidemiology[MeSH:NoExp] be accurate. [fliphtml5.com]

Clinical manifestations, pathophysiology, and diagnosis of atrioventricular (AV) canal defects. UpToDate [online serial]. Waltham, MA: UpToDate; reviewed December 2013. Altman CA. [aetna.com]

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ Seite 332 - Crane JP, LeFevre ML, Winborn RC, et al. [books.google.de]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

Incontinence-associated dermatitis: moving prevention forward - Dimitri Beeckman, Jill Campbell, Karen Campbell, Denise Denise Chimentão, Rita Domansky, Mikel Gray, Heidi Hevia, Joan Junkin, Ayise Karada, Jan Kottner, Mary Arnold Long, Laurie McNichol [live.eprints.soton.ac.uk]

While pharmacotherapies have made some impact on the prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. [aetna.com]

Kappa, A gonadotropin releasing hormone analogue prevents cyclical attacks of porphyria. Arch.Intern.Med. 150 (1990) 1469–1474. PubMed Google Scholar Delfau, M.H., C. Picat, EW.M. [link.springer.com]