When seizures are present they occur early and may be intractable. [ncbi.nlm.nih.gov]

Presented at the SAGES 2017 Annual Meeting in Houston, TX. Abstract ID: 95671 Program Number: P351 Presentation Session: Poster Session (Non CME) Presentation Type: Poster View this Poster Post Views: 189 « Return to SAGES 2019 abstract archive [sages.org]

Acronym FGS4 Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

FBrf0222196] Disease Summary Information Parent Disease Summary: intellectual disability, X-linked, syndromic Symptoms and phenotype Intellectual disability is characterized by impairments in intellectual functioning and adaptive behavior; symptoms must be present [flybase.org]

• Movement Disorder

  Neurologic features may include axial hypotonia, hypertonia/spasticity of the extremities, and dystonia or other movement disorders. Nearly 40% have seizures by age ten years. [ncbi.nlm.nih.gov]

  NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 CASK in Childhood onset dystonia or chorea or related movement [panelapp.genomicsengland.co.uk]

  Copper accumulation in tissues and organs can lead to liver disease, neurological symptoms including movement disorders, dysarthria, dystonia, migraines and seizures; and psychiatric symptoms including depression, personality changes and psychoses. [chginc.org]

• Hearing Impairment

  Affiliated tissues include brain and cerebellum, and related phenotypes are scoliosis and sensorineural hearing impairment UniProtKB/Swiss-Prot : 72 FG syndrome 4: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative [malacards.org]

  These can include: Chronic constipation Seizures Hearing impairment Speech delays Fatigue (likely due to hypotonia) Sensory Processing Disorder Tethered cord syndrome, often requiring surgery Bullying One issue that deserves special mention is challenging [appliedbehavioranalysisedu.org]

  Hearing impairment. Hearing problems are more common in people with diabetes. Alzheimer's disease. Type 2 diabetes may increase the risk of dementia, such as Alzheimer's disease. Depression. [mayoclinic.org]

  Showing of 75 | Medical Terms Other Names Learn More: HPO ID 1%-4% of people have these symptoms Feeding difficulties in infancy 0008872 Scoliosis 0002650 Seizure 0001250 Sensorineural hearing impairment 0000407 Percent of people who have these symptoms [rarediseases.info.nih.gov]

• Hearing Problem

  Diabetes may leave you more prone to skin problems, including bacterial and fungal infections. Hearing impairment. Hearing problems are more common in people with diabetes. Alzheimer's disease. [mayoclinic.org]

• Long Narrow Face

  tall forehead, frontal upsweep, long narrow face, puffy eyelids, open mouth 3. [ncbi.nlm.nih.gov]

  narrow face, prominent narrow jaw, frontal bossing, malar flushing), and developmental delay/intellectual disability. [chginc.org]

• Large Anterior Fontanels

  […] head * Large anterior fontanel * Prominent forehead * Frontal hair upsweep * Widely spaced eyes * Prominent lower lip * Small ears * Simple ears * Face wrinkles * Fine hair * Sparse hair * Epicanthal folds * Short space between eyelids * Down slanting [checkorphan.org]

• Profound Intellectual Disability

  Without dietary restriction of phenylalanine, most children with PKU develop profound and irreversible intellectual disability. [chginc.org]

See Workup for more detail. [emedicine.medscape.com]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

In each, there is an up to 4 weeks screen period followed by a treatment period of 26 weeks and a 4 week follow up period. [clinicaltrials.gov]

This type of treatment is the best treatment at this time for type 1 diabetes. This is an exciting time for patients and for physicians that are keen to develop, prescribe such therapies. Surgery is another option. [mayoclinic.org]

Clinical features, pathogenesis, and treatment of Guillain-Barré syndrome. The Lancet Neurology. 2008;7(10):939-50. Seta T, Nagayama H, Katsura K, Hamamoto M, Araki T, Yokochi M, et al. [revistas.fucsalud.edu.co]

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]

Early recognition of poor prognosis in Guillain-Barré syndrome. Neurology 2011; 76: 968-75. [ Links ] 102. Soysal A, Aysal F, Caliskan B, et al. Clinico-electro physiological findings and prognosis of Guillain-Barré syndrome-10 years’ experience. [scielo.org.ar]

Simple steatosis carries benign prognosis. NASH carries poor prognosis with increased liver-related and cardiovascular mortality. [fg.bmj.com]

Natural History, Complications and Prognosis About a third of reported cases of individuals with FG syndrome die in infancy, usually due to respiratory infection; premature death is rare after infancy. [wikidoc.org]

Last updated: 3/16/2016 Prognosis Prognosis Serious complications of FG syndrome, such as heart defects, breathing complications, or gastrointestinal (GI) malformations, may shorten the lifespan of affected individuals. [rarediseases.info.nih.gov]

Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS). Presse Med. 2013 Jun. 42(6 Pt 2):e193-201. [Medline]. [emedicine.medscape.com]

28 May 2018 Chapter Developmental language disorders Louise Cummings Published online: 05 June 2014 Chapter A survey of developmental pragmatic disorders Louise Cummings Published online: 27 July 2009 Article Research in Mental Retardation: Toward an Etiologic [cambridge.org]

Or Prior therapy with cyclosporine, thalidomide, or lenalidomide within 12 weeks prior to Day 1 Baseline erythropoietin level of >400 mIU/mL Clinically significant anemia due to non-MDS etiologies Information from the National Library of Medicine To learn [clinicaltrials.gov]

Finding new etiologies of mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol. 2008;50:104–111. [PubMed] [Google Scholar] 17. Schwartz CE, Tarpey PS, Lubs HA, et al. [ncbi.nlm.nih.gov]

Etiology GBS is considered to be a postinfectious, immune-mediated disease targeting peripheral nerves. [emedicine.medscape.com]

Xq22.3 Epidemiology and Demographics The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. [wikidoc.org]

Guillain-Barré syndrome, influenza, and influenza vaccination: the epidemiologic evidence. Clin Infect Dis 2014; 58: 1149-55. [ Links ] 40. Thornton CA, Latif AS, Emmanuel JC. [scielo.org.ar]

[…] study reported a decreased GBS incidence following administration of tetanus toxoid containing vaccinations when compared with the baseline population [60] An epidemiologic study failed to show any conclusive epidemiologic association between GBS and [emedicine.medscape.com]

In the 1950s pathologists extended classifications of atherosclerosis for the purpose of estimating the prevalence of individual lesion types in epidemiological studies. [ahajournals.org]

Pathophysiology Genetics Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. In one of these regions, a mutation in a particular gene called MED12 has been found to cause the disorder. [wikidoc.org]

Hypothesis: vasa vasorum and neovascularization of human coronary arteries—a possible role in the pathophysiology of atherosclerosis. N Engl J Med.1984; 310:175-177. [ahajournals.org]

Prevention Type 1 diabetes can't be prevented. But the healthy lifestyle choices that help treat prediabetes, type 2 diabetes and gestational diabetes can also help prevent them: Eat healthy foods. [mayoclinic.org]

The Theme, ‘The Hurried Child Syndrome’s is in commemoration of the celebration of the World Day for the prevention of child abuse. [vanguardngr.com]

[…] stakeholders both in the public and private sector, was an initiative by a none governmental organization, A Mother’s Love Initiative in collaboration with the National Orientation Agency in commemoration of the celebration of the World Day for the prevention [blueprint.ng]

Centers for Disease Control and Prevention. Available at http://www.cdc.gov/zika/hc-providers/diagnostic.html. 2016 Feb 11; Accessed: 2016 Feb 12. Souayah N, Nasar A, Suri MF, Qureshi AI. [emedicine.medscape.com]

Vaccine -preventable diseases, vaccines and Guillain-Barré syndrome. Vaccine 2019; 37: 5544-50. [ Links ] 16. Yuki N. Infectious origins of, and molecular mimicry in, Guillain-Barré and Fisher syndromes. [scielo.org.ar]