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Tenorio Syndrome

Overgrowth Macrocephaly and Intellectual Disability Syndrome


Presentation

  • Inflammation of the limbus and keratoconjunctivitis sicca are often present and reported to resemble Sjogren syndrome. Systemic Features: Infants appear large at birth with a large forehead and macrocephaly.[disorders.eyes.arizona.edu]
  • Acronym TNORS Synonyms Overgrowth, macrocephaly, and intellectual disability syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • His scientific work is extensively cited and he has been presented with numerous national and international awards.[books.google.com]
  • This is a very heterogeneous syndrome, both in terms of clinical presentation and laboratory manifestations.[scirp.org]
  • Age, heart rate, systolic blood pressure, presentation after cardiac arrest, presentation in cardiogenic shock, presentation in heart failure, presentation with ST-segment elevation MI, creatinine clearance, and Tn ratio were all independently associated[academic.oup.com]
Disability
  • OMIM : 57 Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID).[malacards.org]
  • Definition A disease characterized by overgrowth, macrocephaly, and intellectual disability. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome.[uniprot.org]
  • More Symptoms of Tenorio syndrome » Names and Terminology Synonyms : OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME ... Source: GTR (NCBI/NIH) 3 ... ...[familydiagnosis.com]
  • Intellectual disabilities, syncope, hypoglycemia, seizures, apneic episodes, mood anomalies, abnormal gait, and general clumsiness may be present. There was considerable clinical variation among the six reported patients.[disorders.eyes.arizona.edu]
  • SMS is characterised by intellectual disability ...[kegg.jp]
Inflammation
  • Inflammation of the limbus and keratoconjunctivitis sicca are often present and reported to resemble Sjogren syndrome. Systemic Features: Infants appear large at birth with a large forehead and macrocephaly.[disorders.eyes.arizona.edu]
  • This implies that interventions that target inflammation and/or factors that are associated with inflammation may be needed to decrease the excess morbidity seen despite virologic suppression.[academic.oup.com]
  • .: Diethylcarbamazine: Review of its action in onchocerciasis, filariasis and allergic inflammation. Tropical DiseaseBulletin, 82: Rl, 1985. 11. Mackenzie, C.D., Burgess, P. & Sisley, B.M.: Onchocerciasis. In “Immuno—Serology of Parasitic Discases”.[revistadigital.uce.edu.ec]
  • (PMID: 26027934) Kim H … Ronai ZA (Cell reports 2015) 3 4 60 MicroRNA-15b Modulates Japanese Encephalitis Virus-Mediated Inflammation via Targeting RNF125. (PMID: 26202983) Zhu B … Cao S (Journal of immunology (Baltimore, Md. : 1950) 2015) 3 4 60[genecards.org]
  • This guide includes information on canine bowel diseases and their symptoms and Bowel inflammation refers to two different forms i.e.[pirineosostenible.eu]
Wound Infection
  • Intensivnaya terapiya posleoperatsionnoy ranevoy infektsii i sepsisa [Intensive therapy of postoperative wound infection and sepsis]. Saint-Petersburg: Foliant [in Russian]. Podunay, Yu.A., Zalevskaya, I.N., & Rudneva, I.I. (2009).[ojs.tdmu.edu.ua]
Heart Disease
  • Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.com]
  • Diseases Heart Failure Background Education Residency St Francis Medical Center[ucomparehealthcare.com]
  • More severe defects might require surgical correction, although the management will be similar to that in sporadic cases of heart disease ( Table 4 , R47).[nature.com]
Prognathism
  • The most common indications for surgery are problems with feeding; persistent drooling; difficulties with articulation; orthodontic problems, including prognathism and development of an anterior open-bite and incisor spacing and/or flaring; and psychosocial[nature.com]
Hypertrichosis
  • Tenorio Syndrome : Autosomal dominant inheritance Macroglossia Hydrocephalus Macrocephaly Delayed cranial suture closure Mandibular prognathia Wide nose Anteverted nares Telecanthus Thick eyebrow Anxiety Delayed speech and language development Osteopenia Hypertrichosis[familydiagnosis.com]
  • Autonomic erectile dysfunction Orthostatic syncope Female anorgasmia Macrocephaly Anteverted nares Ventriculomegaly Gait disturbance Pneumonia Oxycephaly Osteopenia Cervical spine instability Hypoglycemia Telecanthus Thick eyebrow Hepatomegaly Macroglossia Hypertrichosis[mendelian.co]
Macrocephaly
  • Related phenotypes are macrocephaly and hydrocephalus UniProtKB/Swiss-Prot : 75 Tenorio syndrome: A disease characterized by overgrowth, macrocephaly, and intellectual disability.[malacards.org]
  • Definition A disease characterized by overgrowth, macrocephaly, and intellectual disability. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome.[uniprot.org]
  • More Symptoms of Tenorio syndrome » Names and Terminology Synonyms : OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME ... Source: GTR (NCBI/NIH) 3 ... ...[familydiagnosis.com]
  • Systemic Features: Infants appear large at birth with a large forehead and macrocephaly. Birth weight, length, and head circumference are usually above the 97 th percentile. The mandible appears large and the lips are full and ‘fleshy’.[disorders.eyes.arizona.edu]
  • The most frequent diagnoses were IH (12) and BWS (10); macrocephaly-capillary malformation (6); Costello syndrome (4); chromosomal disorder (3); Sotos syndrome (2); Weaver syndrome (2); Bannayan–Riley–Ruvalcaba syndrome (1), and macrocephaly-autism syndrome[analesdepediatria.org]
Osteopenia
  • Features of Tenorio Syndrome : Autosomal dominant inheritance Macroglossia Hydrocephalus Macrocephaly Delayed cranial suture closure Mandibular prognathia Wide nose Anteverted nares Telecanthus Thick eyebrow Anxiety Delayed speech and language development Osteopenia[familydiagnosis.com]
  • […] atresia Sudden cardiac death Abnormality of the skeletal system Short neck Camptocormia Anxiety Autonomic erectile dysfunction Orthostatic syncope Female anorgasmia Macrocephaly Anteverted nares Ventriculomegaly Gait disturbance Pneumonia Oxycephaly Osteopenia[mendelian.co]
Osteoporosis
  • Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett syndrome and a study of the effects of bisphosphonate treatment during microgravity[books.google.com]
Seizure
  • ., 2014). (616260) MalaCards based summary : Tenorio Syndrome, is also known as overgrowth, macrocephaly, and intellectual disability syndrome , and has symptoms including apnea , seizures and syncope .[malacards.org]
  • Hydrocephalus Macrocephaly Delayed cranial suture closure Mandibular prognathia Wide nose Anteverted nares Telecanthus Thick eyebrow Anxiety Delayed speech and language development Osteopenia Hypertrichosis Keratoconjunctivitis sicca Intellectual disability Seizures[familydiagnosis.com]
  • Intellectual disabilities, syncope, hypoglycemia, seizures, apneic episodes, mood anomalies, abnormal gait, and general clumsiness may be present. There was considerable clinical variation among the six reported patients.[disorders.eyes.arizona.edu]
  • Associated physical features and concerns, such as seizures, movement problems, hypopigmentation, sleep and feeding problems, are present in about 20-80% of children who have this disorder.[omicsonline.org]
  • Exome sequencing reveals de novo germline mutation of mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures.[smithkingsmore.org]
Clumsiness
  • Intellectual disabilities, syncope, hypoglycemia, seizures, apneic episodes, mood anomalies, abnormal gait, and general clumsiness may be present. There was considerable clinical variation among the six reported patients.[disorders.eyes.arizona.edu]
  • […] dysfunction Orthostatic syncope Female anorgasmia Macrocephaly Anteverted nares Ventriculomegaly Gait disturbance Pneumonia Oxycephaly Osteopenia Cervical spine instability Hypoglycemia Telecanthus Thick eyebrow Hepatomegaly Macroglossia Hypertrichosis Clumsiness[mendelian.co]
Delayed Speech and Language Development
  • speech and language development Osteopenia Hypertrichosis Keratoconjunctivitis sicca Intellectual disability Seizures Muscular hypotonia Syncope ... ...[familydiagnosis.com]
  • Learn more about how to achieve it with Mendelian Learn more Other signs and symptoms that you may find interesting Delayed speech and language development and Thrombocytopenia, related diseases and genetic alterations Delayed speech and language development[mendelian.co]
Abnormal Gait
  • Intellectual disabilities, syncope, hypoglycemia, seizures, apneic episodes, mood anomalies, abnormal gait, and general clumsiness may be present. There was considerable clinical variation among the six reported patients.[disorders.eyes.arizona.edu]
Abnormal Gait
  • Intellectual disabilities, syncope, hypoglycemia, seizures, apneic episodes, mood anomalies, abnormal gait, and general clumsiness may be present. There was considerable clinical variation among the six reported patients.[disorders.eyes.arizona.edu]

Workup

  • Evaluation of the diagnostic workup in young women referred for recurrent lower urinary tract infections. Urology 2001 ; 57 : 1068 –72. Bjornsdottir LT , Geirsson RT, Jonsson PV.[ard.bmj.com]

Treatment

  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.com]
  • 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]
  • Treatment References Article Title: A new overgrowth syndrome is due to mutations in RNF125 Tenorio J, Mansilla A, Valencia M, Martinez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillen-Navarro E, Gordo G, Mansilla E, Garcia-Santiago F, Gonzalez-Casado[disorders.eyes.arizona.edu]
  • Tooth Colored Fillings Class I Class II Class III Class IV Class V Silver Fillings Class I Class II Inlays, Onlays, Crown, Root Canal Treatment & Bridges Inlays Onlays Crown Root Canal Treatment Bridges Dental Implants Why Implants Immediate Implant Placement[drmichaeltenorio.com]

Prognosis

  • Prognosis Prognosis depends on the severity of the disease; in the most severe cases, SGBS is life-threatening before birth or in infancy, whereas in milder cases patients often live into adulthood.[orpha.net]
  • Avtoref. diss. … dokt. med. nauk [The effectiveness of intensive therapy in patients with systemic lupus erythematosus with a poor vital prognosis. Author. diss. ... Doct. Med. Sci.]. Moscow; 2000. 58 p.]. 32.[rsp.ima-press.net]
  • Bomardier C , Gladman DD, Urowitz MB, Caron D, Chang CH, the Committee on Prognosis Studies in SLE. Derivation of the SLEDAI. A disease activity index for lupus patients. Arthritis Rheum 1992 ; 35 : 630 –40.[ard.bmj.com]
  • Generally, the prognosis of Henoch-Schonlein purpura [DS:H01584] ...[kegg.jp]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Congenital malformation H01795 Blepharophimosis-mental retardation syndrome Ohdo syndrome Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features[kegg.jp]
  • Diffuse duodenal nodular lymphoid hyperplasia: a large cohort of patients etiologically related to Helicobacter pyloriinfection In some cases this is not the only treatment necessary to cure the gastritis but in most Natural Balance L.I.D. cure acid reflux[pirineosostenible.eu]

Epidemiology

  • Epidemiology There are few epidemiological studies about the PCOS, mainly on population-based.[scirp.org]
  • Clinical Epidemiology. The essentials., Fifth. Phyladelphia:Willians& Wilkins; 2014. Chapter 1, Basic Principles; p. 7–11. Fletcher RH, Fletcher SW, Fletcher GS. Clinical Epidemiology. The essentials., Fifth. Phyladelphia: Willians& Wilkins; 2014.[rbmfc.org.br]
  • ., & Pankiv, V.I. (2002) Epidemiolohiia zakhvoriuvan shchytopodibnoi zalozy v umovakh yodnoi nedostatnosti [Epidemiology of thyroid disease in terms of iodine deficiency]. Likarska sprava – Medical Practice, 1, 31-33 [in Ukrainian].[ojs.tdmu.edu.ua]
  • Summary Epidemiology The birth prevalence is unknown. Approximately 250 cases have been reported to date. Clinical description SGBS manifests a broad clinical picture with varying degrees of severity.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Moutsopoulos, MD, FACP, FRCP is a Professor and Head of the Department of Pathophysiology, Medical School, University of Athens, Greece.[books.google.com]
  • In this disease, GAGs progressively accumulate in the lysosomes, ultimately causing cell, tissue, and organ dysfunction by largely unknown pathophysiological mechanisms.[emedicine.medscape.com]
  • Pre-eclampsia: pathophysiology, diagnosis, and management. Vasc Health Risk Manag 2011;7:467-74. - Weinstein L. Síndrome of hemolysis, elevated liver enzymes, and low platelet count: a severe consequence of hipertensión in pregnancy.[revistamedica.org]
  • The specific pathophysiology of this syndrome has not yet been established, however it is associated with the presence of insulin resistance, obesity, diabetes mellitus type 2, dyslipidemia, metabolic syndrome, hypertension, cardiovascular disease, hyperplasia[scirp.org]
  • Pathophysiology and clinical spectrum of infections in systemic lupus erythematosus. Rheum Dis Clin North Am. 2009;35(1):75-93. doi: 10.1016/j.rdc.2009.03.003 61. Ramos-Casals M, Cuadrado MJ, Alba P, et al.[rsp.ima-press.net]

Prevention

  • […] of Teeth Stainless Steel Crown Extractions Routine Tooth Extraction Extraction of Root Tip Why Third Molar Extraction Third Molar Extraction Horizontal Vertical Mesio Angular Disto Angular Maxillary Erupted Tooth(Mandibular) Erupted Tooth(Maxillary) Preventive[drmichaeltenorio.com]
  • Standardized Mississippi protocol treatment of 190 patients with HELLP syndrome: Slowing disease progression and preventing new major maternal morbidity. Hyperten Pregnancy 2012: 31(1)79-90. - Vigil-De Gracia P, Ortega-Paz L.[revistamedica.org]
  • GPC3 gene mutations prevent glypican 3 from inhibiting the hedgehog signaling pathway. The resulting overactivity of this pathway leads to an increased rate of cell growth and division starting before birth.[ghr.nlm.nih.gov]
  • The Best Way To Cure Gastritis and To Prevent A Seek prompt medical care if you have symptoms of acute gastritis Tambin denominada gastritis erosiva aguda o gastritis recursos externos CIE-10 K29.0 – K29.7 CIE-9 535.0 535.5 MeSH D005756 Wikipedia no es[pirineosostenible.eu]
  • HA were used for prevention and treatment of relapses in 4 (24 %) patients; and HA were combined with donor lymphocyte infusions. Standard chemotherapy was applied for these purposes relatively rarely.[bloodjournal.ru]

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