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]

• Disability

  Name intellectual disability, X-linked, FG syndrome 4 FlyBase ID FBhh0000866 Intellectual disability, X-linked, FG syndrome 4, also called X-linked intellectual disability with or without nystagmus, is one of several diseases associated with defects in [flybase.org]

  Males have mild-to-severe intellectual disability, with or without nystagmus and other ocular features. Females typically have normal intelligence with some displaying mild-to-severe intellectual disability with or without ocular features. [ncbi.nlm.nih.gov]

  physical disabilities, coma and death. [chginc.org]

  Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker. [medlineplus.gov]

  Our patient, a 32-year-old male with FG Syndrome, intellectual disability, schizo-affective disorder, imperforate anus originally presented with constipation, abdominal pain, and intermittent rectal bleeding. [sages.org]

• 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]

  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]

  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]

  Some of these patients with FGS require decompression surgery, but the decision to operate can be difficult because of their developmental delay, difficulties with language skills, general fatigue, possibility of upper motor neuron dysfunction, behavioral [wikigenes.org]

• Multiple Congenital Anomalies

  Entry H00894 Disease Name FG syndrome; Opitz-Kaveggia syndrome Description FG syndrome (FGS), also known as Opitz-Kaveggia syndrome, is a rare X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder characterized by high clinical variability [genome.jp]

  An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. 57 Opitz JM...Kaveggia EG 4365204 1974 7 A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. 61 Dunn P...Schrauwen I 28139025 2017 [malacards.org]

  FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing. Genet Med. 2009 Nov;11(11):769-77. Risheg H, Graham JM, Clark RD, et al. [rarediseases.org]

  FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med. 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90. [medlineplus.gov]

  congenital anomalies, followed by pancytopenia in the first decade of life. [chginc.org]

• Epilepsy

  Variants in this gene are associated with a range of phenotypes that include generalized epilepsy with febrile seizures, early infantile epileptic encephalopathy, Dravet syndrome and intractable childhood epilepsy, severe myoclonic epilepsy of infancy [chginc.org]

  Genet. (1994) [Pubmed] Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy. Loesch, D.Z., Hay, D.A., Sheffield, L.J. Am. J. Med. [wikigenes.org]

• Constipation

  Definition FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. [uniprot.org]

  Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome [8]. [wikigenes.org]

  OMIM® : 57 FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003). [malacards.org]

  300422) Human gene(s) implicated [CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK](https://omim.org/entry/300172) Symptoms and phenotype FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation [flybase.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]

• Failure to Thrive

  […] to thrive, which may mask the symptoms of a Chiari I malformation [16]. [wikigenes.org]

• Heart Disease

  Fibrinogen, viscosity, and white blood cell count are major risk factors for ischemic heart disease: the Caerphilly and Speedwell collaborative heart disease studies. Circulation.1991; 83:836-844. LinkGoogle Scholar 47 Moller L, Kristensen TS. [ahajournals.org]

  If you have diabetes, you're more likely to have heart disease or stroke. Nerve damage (neuropathy). Excess sugar can injure the walls of the tiny blood vessels (capillaries) that nourish your nerves, especially in your legs. [mayoclinic.org]

• Jaundice

  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]

• Macrocephaly

  Definition FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. [uniprot.org]

  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]

  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 macrocephaly [malacards.org]

  People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly [rarediseases.info.nih.gov]

• 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. [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]

• Hypertelorism

  Chapter Notes Authors: Ute Moog Kerstin Kutsche view full author information Show allHide all Abnormality of head or neck Prominent forehead Wide nasal bridge Abnormality of the digestive system Feeding difficulties in infancy Abnormality of the eye Hypertelorism [ncbi.nlm.nih.gov]

  HP:0001319 4 feeding difficulties in infancy 31 very rare (1%) HP:0008872 5 prominent forehead 31 very rare (1%) HP:0011220 6 seizure 31 very rare (1%) HP:0001250 7 intellectual disability 31 HP:0001249 8 global developmental delay 31 HP:0001263 9 hypertelorism [malacards.org]

  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]

  0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Global developmental delay 0001263 Gray matter heterotopia 0002282 High pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypertelorism [rarediseases.info.nih.gov]

• Broad Nasal Bridge

  nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ [rarediseases.info.nih.gov]

  The characteristic facial gestalt of PHS includes microcephaly, coarse facies, broad nasal bridge, wide mouth, fleshly lips, and cup-shaped ears. [chginc.org]

• Seizure

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

  […] rare (1%) HP:0002650 2 sensorineural hearing impairment 31 very rare (1%) HP:0000407 3 neonatal hypotonia 31 very rare (1%) HP:0001319 4 feeding difficulties in infancy 31 very rare (1%) HP:0008872 5 prominent forehead 31 very rare (1%) HP:0011220 6 seizure [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]

  Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. [rarediseases.info.nih.gov]

  Lennox-Gastaut syndrome, infantile spasms, vaccine-related encephalopathy, and seizures. [chginc.org]

• Hyperactivity

  […] disorder Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Broad thumb [rarediseases.info.nih.gov]

  Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. [medlineplus.gov]

  Individuals with FG syndrome are also thought to have a distinctive behavioral phenotype of hyperactivity and excessive talkativeness. [chginc.org]

• Febrile Seizures

  Variants in this gene are associated with a range of phenotypes that include generalized epilepsy with febrile seizures, early infantile epileptic encephalopathy, Dravet syndrome and intractable childhood epilepsy, severe myoclonic epilepsy of infancy [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]

[…] of anemia in subjects with CKD on dialysis, with treatment up to 52 weeks. [clinicaltrials.gov]

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]

The treatment difference between groups was first seen very early in the trial. [nejm.org]

See Treatment and Medication for more detail. [emedicine.medscape.com]

Treatment Treatment Treatment is aimed at addressing the individual symptoms present in each case.[3][2][5] This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and [rarediseases.info.nih.gov]

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

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]

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

[…] 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]

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. However, the same healthy lifestyle choices that help treat prediabetes, type 2 diabetes and gestational diabetes can also help prevent them: Eat healthy foods. [mayoclinic.org]

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]

However, patients with NASH can progress to cirrhosis and therefore should be more actively managed to try and prevent disease progression. [fg.bmj.com]

The number of patients who would need to be treated to prevent one event of the primary outcome over a period of 24 months was 45 on the basis of Kaplan–Meier estimates.8 Most study patients were receiving cardiovascular risk management at baseline, as [nejm.org]

At the same time, new emphasis on prevention of complicated lesions (histological type VI) has made early detection of lesions and assessment of lesion extent and composition important clinical goals. [ahajournals.org]