Presentation
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]
When seizures are present they occur early and may be intractable. [ncbi.nlm.nih.gov]
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]
Entire Body System
- Developmental Delay
MICPCH in males may occur with or without severe epileptic encephalopathy in addition to severe-to-profound developmental delay. When seizures are present they occur early and may be intractable. [ncbi.nlm.nih.gov]
—I read with great interest the report by Say and Meyer (Journal 1981;135:711-712) describing an X-linked syndrome of trigoncephaly, short stature, and developmental delay. [jamanetwork.com]
Blepharophimosis, short humeri, developmental delay and Hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A 2014 164A:1821-5. Lesca G, Moizard MP, Bussy G, et al. [rarediseases.org]
delay 31 HP:0001263 9 hypertelorism 31 HP:0000316 10 wide nasal bridge 31 HP:0000431 Clinical features from OMIM®: 300422 (Updated 05-Apr-2021) Genetic tests related to Fg Syndrome 4: # Genetic test Affiliating Genes 1 Fg Syndrome 4 29 CASK MalaCards [malacards.org]
- Anemia
Condition or disease Intervention/treatment Phase Anemia Drug: FG-4592 Drug: Epoetin Alfa Phase 3 Detailed Description: This is a randomized, multicenter, open-label, active-controlled study of the treatment of anemia in subjects with CKD on dialysis. [clinicaltrials.gov]
Resulting complications include anemia, jaundice, predisposition to aplastic crisis, sepsis, cholelithiasis, and delayed growth. The change in the beta globin gene that causes sickle-cell anemia has been well described. [chginc.org]
- Collapse
Vessels may be distended to their in vivo dimensions and configurations by controlled pressure fixation procedures to minimize artifacts caused by postmortem collapse and contraction. [ahajournals.org]
Musculoskeletal
- Macrocephaly
Definition FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. [uniprot.org]
Ten had macrocephaly (five absolute, five relative). [ncbi.nlm.nih.gov]
FG syndrome is an X-linked condition comprising mental retardation, congenital hypotonia, macrocephaly, distinctive facial changes, and constipation or anal malformations [2]. [wikigenes.org]
The cardinal features of the syndrome are congenital hypotonia, delayed development of speech, relative macrocephaly (as compared to height and weight), anal anomalies or severe constipation, and dysmorphic facial features. [genome.jp]
Diagnosis Symptoms Mental retardation usually severe; Hyperactive behavior, often with an outgoing personality; Severe constipation Seizures Physical Examination Appearance of the Patient Short stature Head Macrocephaly Prominent forehead Eyes Hypertelorism [wikidoc.org]
- Decrease in Height
[…] length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Single transverse palmar crease 0000954 Skin tags 0010609 Sparse hair 0008070 Split hand Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [rarediseases.info.nih.gov]
Ears
- 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]
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 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]
Face, Head & Neck
- 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]
Urogenital
- Cryptorchidism
Droopy, "open-mouthed" expression, a thin upper lip, a full or pouting lower lip due to hypotonia Abdomen Inguinal hernia Extremities Broad thumbs and great toes Neurologic Severe hypotonia Others Imperforate anus may be present Undescended testes (cryptorchidism [wikidoc.org]
Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia). [medlineplus.gov]
[…] rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ] 0000453 Cleft palate Cleft roof of mouth 0000175 Cleft upper lip Harelip 0000204 Clinodactyly Permanent curving of the finger 0030084 Constipation 0002019 Cryptorchidism [rarediseases.info.nih.gov]
Megacolon, pyloric stenosis, renal cysts and stones, cryptorchidism, skeletal anomalies including joint contractures, hip dysplasia, pectus deformities, vertebral and rib anomalies, syndactyly or oligodactyly of the fingers, and ocular anomalies were [ncbi.nlm.nih.gov]
Dental hypoplasia, deafness and cryptorchidism are common features. Our laboratory offers DNA sequencing of all coding exons (1-45) of the MED12 gene. This assay may be ordered alone or as part of the X-linked Intellectual Disability (XLID) panel. [chginc.org]
Neurologic
- Abnormal Gait
Dystonia may also affect other parts of the body, causing impaired speech and/or an abnormal gait. Other features may include epilepsy and autism spectrum disorder. [chginc.org]
Workup
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]
Treatment
[…] of anemia in subjects with CKD on dialysis, with treatment up to 52 weeks. [clinicaltrials.gov]
The treatment difference between groups was first seen very early in the trial. [nejm.org]
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]
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]
Prognosis
Simple steatosis carries benign prognosis. NASH carries poor prognosis with increased liver-related and cardiovascular mortality. [fg.bmj.com]
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]
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]
Etiology
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]
Epidemiology
[…] 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]
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]
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
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
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]