Down-slanting palpebral fissures Throat 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 [wikidoc.org]

Healthcare providers diagnosed cysts, fibroids and even early menopause, but Moore said no one presented a treatment plan that worked. For the next four years, Moore searched for answers. [healthywomen.org]

Guillain-Barré syndrome and Fisher syndrome: case definitions and guidelines for collection, analysis, and presentation of immunization safety data. Vaccine 2011; 29: 599-612. [ Links ] 5. Hadden RD, Cornblath DR, Hughes RA, et al. [scielo.org.ar]

Elenco Malattie Rare rilevate in Regione Toscana Le malattie rare rilevate in Toscana attraverso il Registro Toscano Malattie Rare sono distinte in 2 tipologie: esenti a livello nazionale (codice di esenzione presente nel DPCM 12/01/2017) non esenti [malattierare.toscana.it]

• Developmental Delay

  —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]

• Weight Loss

  Extreme hunger, unintended weight loss, fatigue and weakness, blurred vision, irritability, and other mood changes. If you or your child are experiencing any of these symptoms, you should talk to your doctor. [mayoclinic.org]

• Delayed Speech Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

  Aliases & Classifications for Fg Syndrome 2 Summaries for Fg Syndrome 2 OMIM : 56 Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly [malacards.org]

• Constipation

  Related phenotypes are constipation and delayed speech and language development UniProtKB/Swiss-Prot : 73 FG syndrome 2: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. [malacards.org]

  These can include hypotonia, chronic constipation, a wide and high forehead, small ears, chronic ear infections, respiratory conditions, and sensory integration issues, among other markers. [appliedbehavioranalysisedu.org]

  Showing of 11 | Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Broad hallux Broad big toe Wide big toe [ more ] 0010055 Constipation 0002019 Decreased body weight Decreased weight Low [rarediseases.info.nih.gov]

  Conversely, FGS1 is further characterized by constipation, anal anomalies, small and simple ears, tall and prominent forehead, downslanting palpebral fissures, broad thumbs and halluces, and abnormalities of the corpus callosum (Opitz et al. [preventiongenetics.com]

  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]

• Macrocephaly

  Aliases & Classifications for Fg Syndrome 2 Summaries for Fg Syndrome 2 OMIM : 56 Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly [malacards.org]

  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]

  […] the Disease Disease at a Glance Symptoms Causes Advocacy and Support Groups Research Summary Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly [rarediseases.info.nih.gov]

  Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). [medlineplus.gov]

• Frontal Upsweep of Hair

  Hair: frontal upsweep of hair with cowlick Clinical features from OMIM: 300321 Drugs & Therapeutics for Fg Syndrome 2 Genetic Tests for Fg Syndrome 2 Genetic tests related to Fg Syndrome 2: # Genetic test Affiliating Genes 1 Fg Syndrome 2 29 FLNA Anatomical [malacards.org]

  upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Large forehead Increased size of forehead 0002003 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Prominent forehead Pronounced forehead Protruding forehead [ [rarediseases.info.nih.gov]

• Hearing Impairment

  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]

• Delayed Speech and Language Development

  Related phenotypes are constipation and delayed speech and language development UniProtKB/Swiss-Prot : 73 FG syndrome 2: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. [malacards.org]

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

• Neonatal Hypotonia

  hypotonia Low muscle tone, in neonatal onset 0001319 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220 Protruding ear Prominent ear Prominent ears [ more ] 0000411 Underdeveloped superior crus of antihelix 0011246 X-linked inheritance [rarediseases.info.nih.gov]

  Symptoms & Phenotypes for Fg Syndrome 2 Human phenotypes related to Fg Syndrome 2: 31 (show all 10) # Description HPO Frequency HPO Source Accession 1 constipation 31 HP:0002019 2 delayed speech and language development 31 HP:0000750 3 neonatal hypotonia [malacards.org]

• Language Delays

  […] speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

  Related phenotypes are constipation and delayed speech and language development UniProtKB/Swiss-Prot : 73 FG syndrome 2: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. [malacards.org]

Monoclonal gammopathy of renal significance (MGRS) histopathologic classification, diagnostic workup, and therapeutic options. Neth J Med. 2019;77:243–54. CAS PubMed Google Scholar Jain A, Haynes R, Kothari J, Khera A, Soares M, Ramasamy K. [link.springer.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

There is no cure for SPS, but treatments can help control the symptoms. [medicalnewstoday.com]

She believes her story and those of other Black women survivors she meets highlight the disparities Black women can face in receiving proper treatment, from being able to afford healthcare insurance and treatment by specialists to dealing with potential [healthywomen.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]

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]

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]

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]

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]

Pathophysiology and management of monoclonal gammopathy of renal significance. Blood Adv. 2019;3:2409–23. CrossRef CAS PubMed PubMed Central Google Scholar Leung N, Bridoux F, Batuman V, Chaidos A, Cockwell P, D’Agati VD, Dispenzieri A, et al. [link.springer.com]

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]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

References https://batten.virginia.edu/about/news/black-americans-are-systematically-under-treated-pain-why https://www.cancer.org/cancer/colon-rectal-cancer/about/what-is-colorectal-cancer.html https://www.cancer.org/cancer/endometrial-cancer/causes-risks-prevention [healthywomen.org]

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]