• Oct. 20, 2022 A study found that high aerobic fitness does not protect children from metabolic syndrome. (sciencedaily.com)
  • 11, 2022 Metabolic syndrome increases a person's risk for diabetes, heart disease, and stroke, and includes conditions such as obesity, high blood pressure and high blood sugar. (sciencedaily.com)
  • Irritable bowel syndrome (IBS) is influenced by many factorsneurological, immunological, psychological, and likely others. (va.gov)
  • People with irritable bowel syndrome, or IBS, have a gut that won't behave, even when it seems like there's nothing wrong. (aarp.org)
  • Irritable bowel syndrome (IBS) is a long-term gastrointestinal disorder that can cause persistent discomfort. (medicalnewstoday.com)
  • The syndrome usually affects women around the age of 18 years, with female to male ratio of cases of 2:1. (wikipedia.org)
  • It affects 1 in 1,000-2,500 live births with no sex predominance, and is the most common syndromal cause of congenital heart disease, except for Down's syndrome (Zaras, et al. (bartleby.com)
  • Reye (or Reye's) syndrome most often affects kids 4 to 14 years old. (kidshealth.org)
  • Apert syndrome is a condition where the bones of the skull fuse together too early, which affects the shape of the head and face. (medicalnewstoday.com)
  • Leigh Syndrome affects one in every 40,000 newborns and is produced by deficits in the mitochondria, which are in charge of providing the energy needed for cells to function correctly. (news-medical.net)
  • This explains why metabolic syndrome affects an estimated one in four adults. (nidirect.gov.uk)
  • Alagille syndrome is a genetic disorder that usually affects the development and function of the liver. (childrens.com)
  • Angelman syndrome affects approximately 1 in every 20,000 children, and it is estimated that more than 15,000 people in the United States have the condition. (medicinenet.com)
  • Down syndrome, which affects roughly 1 in 700 live births, is the most common genetic cause of mental retardation and congenital heart disease. (eurekalert.org)
  • Respiratory distress syndrome (RDS) is a breathing problem that sometimes affects babies born six weeks or more before their due dates. (hopkinsmedicine.org)
  • On April 25, 2023, Barbie® introduced its first doll with Down syndrome, a step to further increasing disability representation in the toy aisle. (ndss.org)
  • Tourette syndrome is a disorder of the nervous system. (medlineplus.gov)
  • William F. Hoyt was the first to call the syndrome Susac syndrome and later Robert Daroff asked Dr. Susac to write an editorial in Neurology about the disorder and to use the eponym of Susac syndrome in the title, forever linking this disease with him. (wikipedia.org)
  • Take, for instance, a common group of birth defects - forms of a disorder called DiGeorge syndrome. (scienceblogs.com)
  • For example, parents who have a child with Down syndrome or another chromosomal disorder, or who have a chromosomal disorder themselves, are more likely to have a child with Down syndrome. (specialolympics.org)
  • Abstract Noonan syndrome is an inherited disorder of cell growth affecting both males and females and characterized by distinctive facial features, short stature, heart defects, bleeding problems, chest wall abnormalities, and other signs and symptoms. (bartleby.com)
  • Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016). (bartleby.com)
  • Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children. (bartleby.com)
  • What they have is a genetic disorder called Noonan Syndrome, and they do not choose to have this. (bartleby.com)
  • Noonan Syndrome is an autosomal dominant disorder, which is inherited by the mutation from one affected parent. (bartleby.com)
  • Introduction Noonan syndrome, named eponymously for the pediatric cardiologist who first described it, is an autosomal dominant disorder (Gelb and Tartaglia, 2006). (bartleby.com)
  • People with Tourette Syndrome usually have an associated disorder as well, Wylie said, such as attention deficit disorder or obsessive-compulsive disorder. (cnn.com)
  • Wyburn-Mason syndrome is a congenital, nonhereditary, sporadic disorder without sexual or racial predilection. (medscape.com)
  • Wyburn-Mason syndrome is a congenital disorder. (medscape.com)
  • Because it can be a life-threatening disorder, Reye syndrome is a medical emergency . (kidshealth.org)
  • Apert syndrome is a genetic disorder. (medicalnewstoday.com)
  • Most cases of Apert syndrome appear with no previous family history of the disorder. (medicalnewstoday.com)
  • 2019 However, her urine test showed high protein levels, which suggested nephrotic syndrome , a kidney disorder. (merriam-webster.com)
  • 2019 At 7 months, Anthony was diagnosed with the kidney disorder nephrotic syndrome . (merriam-webster.com)
  • Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia have found that developmental delays associated with Leigh syndrome, the most common pediatric mitochondrial disorder, may occur earlier than previously recognized - even before metabolic stroke and regression - which could provide clinicians with an opportunity for earlier diagnosis and therapeutic interventions. (news-medical.net)
  • Guillain-Barré syndrome (GBS) is a rare disorder where the body's immune system damages nerve. (cdc.gov)
  • According to a recent study, approximately half of people with Angelman syndrome will have autism spectrum disorder . (medicinenet.com)
  • Apert syndrome is a genetic disorder in which certain skull bones fuse together prematurely, which is known as craniosynostosis . (childrens.com)
  • Apert syndrome can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is all that is needed to cause the disorder. (childrens.com)
  • However, new mutations in the gene usually cause most cases of Apert syndrome, and happen in babies with no family history of the disorder. (childrens.com)
  • The 11 patients were diagnosed with antiphospholipid syndrome: 9 patients were treated successfully with laser photocoagulation and anticoag- ulant and anti-aggregant therapy. (who.int)
  • This association has controls prior to their participation in our been termed the antiphospholipid syndrome study. (who.int)
  • [13] [2] Other acquired hypercoagulable disorders that may result in Budd-Chiari syndrome include antiphospholipid syndrome and paroxysmal nocturnal hemoglobinuria , which are responsible for 10-12% and 7-12% of Budd-Chiari syndrome cases, respectively. (wikipedia.org)
  • The pathogenesis of the antiphospholipid syndrome. (medscape.com)
  • Antiphospholipid syndrome: Complement activation, complement gene mutations, and therapeutic implications. (medscape.com)
  • Nalli C, Andreoli L, Casu C, Tincani A. Management of recurrent thrombosis in antiphospholipid syndrome. (medscape.com)
  • Diagnosis and management of the antiphospholipid syndrome. (medscape.com)
  • Mendoza-Pinto C, García-Carrasco M, Cervera R. Role of Infectious Diseases in the Antiphospholipid Syndrome (Including Its Catastrophic Variant). (medscape.com)
  • Cruz-Tapias P, Blank M, Anaya JM, Shoenfeld Y. Infections and vaccines in the etiology of antiphospholipid syndrome. (medscape.com)
  • Familial antiphospholipid syndrome and HLA-DRB gene associations. (medscape.com)
  • Gómez-Puerta JA, Cervera R. Diagnosis and classification of the antiphospholipid syndrome. (medscape.com)
  • Dabit JY, Valenzuela-Almada MO, Vallejo-Ramos S, Duarte-García A. Epidemiology of Antiphospholipid Syndrome in the General Population. (medscape.com)
  • Lockshin MD. Update on antiphospholipid syndrome. (medscape.com)
  • Cervera R. Antiphospholipid syndrome. (medscape.com)
  • Pediatric antiphospholipid syndrome: clinical and immunologic features of 121 patients in an international registry. (medscape.com)
  • Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). (medscape.com)
  • Man YL, Sanna G. Neuropsychiatric Manifestations of Antiphospholipid Syndrome-A Narrative Review. (medscape.com)
  • Galli M, Luciani D, Bertolini G. Lupus anticoagulants are stronger risk factors for thrombosis than anticardiolipin antibodies in the antiphospholipid syndrome: a systematic review of the literature. (medscape.com)
  • [2] Inherited disorders of hypercoagulability may lead to thrombosis of the hepatic vein and Budd-Chiari syndrome. (wikipedia.org)
  • [2] [14] Budd-Chiari syndrome may be the presenting sign of these hypercoagulable disorders. (wikipedia.org)
  • In addition, people with Down syndrome are at increased risk for a range of other health conditions, including Autism Spectrum Disorders, problems with hormones and glands, hearing loss, vision problems, and heart abnormalities. (specialolympics.org)
  • The Vinaya Rett Syndrome and Related Spectrum Disorders Clinic provides comprehensive, multidisciplinary care for children and adults. (cincinnatichildrens.org)
  • We provide evaluation and treatment for all variations of Rett syndrome and related MECP2 spectrum disorders. (cincinnatichildrens.org)
  • It is important to note that portopulmonary hypertension is often confused with hepatopulmonary syndrome, but these are entirely different diseases (see "Related Disorders" below). (rarediseases.org)
  • Samantha West, Milwaukee Journal Sentinel , 10 June 2018 According to Mayo Clinic, nephrotic syndrome is usually caused by damage to small blood vessels in the kidneys that filter waste and excess water from your blood. (merriam-webster.com)
  • Universal Screening for Lynch Syndrome: Can Tumor Sequencing Have a Larger Public Health Impact on Treatment and Prevention of Colorectal Cancer? (cdc.gov)
  • Secondary Budd-Chiari syndrome, which is very rare compared to the primary variant, is due to compression of the hepatic vein by an outside structure (such as a tumor or polycystic kidney disease ). (wikipedia.org)
  • If 2 out the 3 screening tests show high cortisol levels, the doctor will do more tests to figure out the cause of endogenous cortisol production, such as a pituitary tumor making an excess of ACTH (also called Cushing disease), an adrenal tumor, or a tumor at a different site making too much of ACTH or a hormone that stimulates ACTH production (ectopic Cushing syndrome). (massgeneral.org)
  • Up to 85% of reported mutations in association with PTEN-related hamartoma tumor syndromes are detectable by this test. (cincinnatichildrens.org)
  • Blumenthal, G.M. and P.A. Dennis (2008) "PTEN Hamartoma Tumor Syndromes. (cincinnatichildrens.org)
  • 2019 Other conditions, such as cystic kidneys, genetic factors, nephrotic syndrome and autoimmune diseases also can cause kidney failure. (merriam-webster.com)
  • CDC is conducting surveillance and investigations of multisystem inflammatory syndrome in children and adults, a rare but serious condition associated with COVID-19. (cdc.gov)
  • Multisystem inflammatory syndrome (MIS) can affect children (MIS-C) and adults (MIS-A). MIS is a rare but serious condition associated with COVID-19 in which different body parts become inflamed, including the heart, lungs, kidneys, brain, skin, eyes, or gastrointestinal organs. (cdc.gov)
  • Budd-Chiari syndrome is a very rare condition, affecting one in a million adults. (wikipedia.org)
  • Adults and children with Down syndrome are different in so many ways. (specialolympics.org)
  • Adults with Down syndrome are living longer lives with increased well-being. (cdc.gov)
  • As with all adults, advancing age increases the chances a person with Down syndrome will develop Alzheimer's disease. (cdc.gov)
  • Amyloid accumulation is seen in almost all adults over 40 with Down syndrome. (cdc.gov)
  • Additionally, adults with Down syndrome experience "accelerated aging," meaning that in their 40s and 50s, they experience certain conditions that are more commonly seen in much older adults in the general population. (cdc.gov)
  • Most adults with Down syndrome do not self-report concerns about memory. (cdc.gov)
  • Dec. 8, 2020 Researchers have identified a novel mechanism by which periodontal disease may cause metabolic syndrome. (sciencedaily.com)
  • Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. (medscape.com)
  • Atypical Phenotypes Associated with Pathogenic CHD7 Varaints and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria. (medscape.com)
  • Clinical findings in the intermediate syndrome. (cdc.gov)
  • Karalliedde (Karalliedde and Senanayake 1989) first described the syndrome in 1987 and observed that, although clinical findings occurred in a delayed fashion, they were described as acute in onset. (cdc.gov)
  • The diagnosis of Brugada syndrome is established clinically in an individual with characteristic EKG findings and suggestive clinical history and/or family history. (nih.gov)
  • Espana A, Sanz ML, Sola J, Gil P. Wells' syndrome (eosinophilic cellulitis): correlation between clinical activity, eosinophil levels, eosinophil cation protein and interleukin-5. (medscape.com)
  • More rarely, the clinical picture of ADF is subtle, presenting as an obstructive syndrome, and in these cases the principal goal is to effectively relieve the mechanical bowel obstruction. (sciencedaily.com)
  • Proteus syndrome (PS) is characterized by hemihypertrophy and subcutaneous tumors with Proteus-like syndrome referring to individuals with clinical features of PS that do not meet diagnostic criteria. (cincinnatichildrens.org)
  • 2015) "Clinical Presentation of PTEN Mutations in Childhood in the Absence of Family History of Cowden Syndrome. (cincinnatichildrens.org)
  • These patients are also at risk for developing Chiari malformation, however their risk is lower than that of patients with Crouzon or Pfeiffer syndromes. (childrens.com)
  • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (medscape.com)
  • Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. (medscape.com)
  • The syndrome is caused by mutations in both copies of the CENPF gene, which codes for centromere protein F. This protein is involved in cell division, in which it forms part of a disc-shaped protein complex known as a kinetochore. (wikipedia.org)
  • Mutations in the gene result in slower cell division and some embryonic developmental processes being disrupted or not completed, and the syndrome can be classified as a ciliopathy. (wikipedia.org)
  • In 2015, mutations in CENPF were first identified as pathogenic, and a 2016 genetic analysis of Strømme's original two siblings found that both had mutations in both of their copies of CENPF, establishing it as the cause of the syndrome. (wikipedia.org)
  • At least two individuals with the syndrome in literature have avoided intestinal atresia, one of which had a sibling with the same mutations who did not. (wikipedia.org)
  • Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
  • DICER1 syndrome is caused by mutations in the DICER1 gene. (medlineplus.gov)
  • Most of the gene mutations involved in DICER1 syndrome lead to an abnormally short Dicer protein that is unable to aid in the production of miRNA. (medlineplus.gov)
  • Mutations in the FGFR2 gene cause Apert syndrome. (childrens.com)
  • Promoter analysis of PTEN will identify mutations in about 10% of patients with Cowden syndrome. (cincinnatichildrens.org)
  • Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. (wikipedia.org)
  • The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. (wikipedia.org)
  • Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Metabolic syndrome, a collection of related abnormalities like hypertension, obesity, insulin resistance, and excess cholesterol, poses a major risk for developing heart disease and diabetes. (sciencedaily.com)
  • Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V 1 -V 3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. (nih.gov)
  • There are several different abnormalities caused by Noonan Syndrome that can affect people. (bartleby.com)
  • Apert syndrome can also cause abnormalities in the fingers and toes. (medicalnewstoday.com)
  • To formally diagnose a person with Apert syndrome, a doctor will look for the characteristic bone abnormalities affecting the head, face, hands, and feet. (medicalnewstoday.com)
  • Individuals with a genetic predisposition to high cholesterol can be especially vulnerable to metabolic syndrome, but researchers have now found that blocking the enzyme stearoyl-CoA desaturase-1, which helps synthesize unsaturated fatty acids, greatly improves the profile of FH-mice affected by metabolic syndrome. (sciencedaily.com)
  • Background: Although metabolic syndrome (MetS) was described in the late 80s, the molecular mechanisms underlying clustering of risk factors in certain individuals are not fully understood. (lu.se)
  • Metabolic syndrome is the medical term for a combination of diabetes, high blood pressure and obesity. (nidirect.gov.uk)
  • Metabolic syndrome is associated with being overweight or obese, and a lack of physical activity. (nidirect.gov.uk)
  • Your chances of developing metabolic syndrome are greater if you have a family history of type 2 diabetes, or you've had diabetes during pregnancy ( gestational diabetes ). (nidirect.gov.uk)
  • You can prevent or reverse metabolic syndrome by making a number of lifestyle changes. (nidirect.gov.uk)
  • Noonan Syndrome (autosomal dominant condition) is a fairly common disease, affecting 1 in every 1,000-2,500 people. (bartleby.com)
  • Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. (nih.gov)
  • [ 34 ] Cutaneous dirofilariasis may also clinically resemble Wells syndrome. (medscape.com)
  • In contrast to other phakomatoses, Wyburn-Mason syndrome does not commonly cause cutaneous manifestations. (medscape.com)
  • In 2017, the FDA approved the first drug specifically to treat Churg-Strauss syndrome. (webmd.com)
  • 2017 American Kidney Fund states that, in children, nephrotic syndrome effects around 2 in every 10,000 and is most common among 2- to 6-year-olds. (merriam-webster.com)
  • If you have Tourette syndrome, you make unusual movements or sounds, called tics. (medlineplus.gov)
  • The cause of Tourette syndrome is unknown. (medlineplus.gov)
  • The site is home to a new project from the Tourette Syndrome Foundation of Canada. (cnn.com)
  • Build a biscuit, put a sheepdog on top" is actually a verbal tic, and it's been posted to @sammsy's feed as part of project designed to raise awareness about Tourette Syndrome. (cnn.com)
  • During that time, a program posted tweets containing real-life verbal tics, sent to the foundation from people who have Tourette Syndrome . (cnn.com)
  • We were trying to think of a way to get people to experience Tourette Syndrome," art director Rachel Kennedy said. (cnn.com)
  • People with Tourette Syndrome suffer from involuntary tics, which can be either verbal or physical. (cnn.com)
  • Many know it only as the "swearing disease," but only about 10% of people with Tourette Syndrome swear, says Cathy Wylie, president of the Tourette Syndrome Foundation of Canada. (cnn.com)
  • Wylie's son was diagnosed with Tourette Syndrome 20 years ago. (cnn.com)
  • It's unknown exactly how many children living in the United States or Canada have Tourette Syndrome. (cnn.com)
  • piriformis syndrome , irritation of the sciatic nerve as it passes over, under, or through the piriformis muscle of the buttock. (britannica.com)
  • Piriformis syndrome is due to entrapment and irritation of the sciatic nerve. (britannica.com)
  • In athletes, piriformis syndrome can also be seen following activities that cause repetitive hip rotation and extension , such as running and climbing. (britannica.com)
  • Piriformis syndrome is compression of the sciatic nerve by the piriformis muscle in the posterior pelvis, causing pain in the buttocks and occasionally sciatica. (msdmanuals.com)
  • Piriformis syndrome is uncommon. (msdmanuals.com)
  • In piriformis syndrome, the sciatic nerve is compressed by the piriformis muscle in the posterior pelvis. (msdmanuals.com)
  • In patients that have already been diagnosed with sarcoidosis, Heerfordt syndrome can be inferred from the major symptoms of the syndrome, which include parotitis, fever, facial nerve palsy and anterior uveitis. (wikipedia.org)
  • Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. (medlineplus.gov)
  • The original classifications included velo-cardio-facial syndrome, Shprintzen syndrome, 22q11 deletion syndrome, Sedlackova syndrome and conotruncal anomaly face syndrome. (scienceblogs.com)
  • Wyburn-Mason syndrome (WMS), also known as Bonnet-Dechaume-Blanc syndrome or retinoencephalofacial angiomatosis, is a rare nonhereditary congenital phakomatosis characterized by arteriovenous malformations (AVMs) of the retina, brain, and, in some cases, facial skin. (medscape.com)
  • Schmidt D. [Congenital retinocephalic facial vascular malformation syndrome. (medscape.com)
  • People born with Apert syndrome may experience problems with their vision and teeth because of the abnormal shape of the facial and skull bones. (medicalnewstoday.com)
  • A small region of this replicated segment is found in triplicate in all people with segmental trisomy and Down syndrome's facial features, and so it had been dubbed the "Down syndrome critical region" or DSCR. (eurekalert.org)
  • To see whether DSCR is as critical as many suggested, then-graduate student Lisa Olson, Ph.D., created "chromosomally" engineered mice, and found that mice with three copies of just their DSCR equivalent actually had facial and skeletal changes opposite of those seen in Down syndrome. (eurekalert.org)
  • Their faces were longer and narrower than normal, but Down syndrome is characterized by shorter than normal facial bones. (eurekalert.org)
  • Some genes in the region contribute to the effects on facial bones, but, in triplicate alone, this region produces different traits than those seen in Down syndrome," says Reeves. (eurekalert.org)
  • Recent studies have shown that intermediate syndrome is accompanied by the excretion of cholinesterase inhibitor metabolites in the urine and by severe depression in cholinesterase levels. (cdc.gov)
  • However, the syndrome has a wide range of severity that generally runs in the family it presents in, ranging from only mild learning disability and microcephaly with no other features in some families to death in utero with severe kidney, heart, eye, skeletal, brain and intestinal malformations in others. (wikipedia.org)
  • The acute syndrome presents with rapidly progressive severe upper abdominal pain , yellow discoloration of the skin and whites of the eyes , liver enlargement , enlargement of the spleen , fluid accumulation within the peritoneal cavity , elevated liver enzymes , and eventually encephalopathy . (wikipedia.org)
  • Down syndrome is only rarely associated with severe cognitive impairment. (specialolympics.org)
  • People with Down syndrome are extremely likely to experience severe issues related to their heart, which places them at increased risk for early onset dementia. (cdc.gov)
  • Leigh syndrome is the most severe mitochondrial disease in children. (news-medical.net)
  • The diagnosis of myalgic encephalomyelitis/chronic fatigue syndrome should be questioned if patients do not have these symptoms at least half of the time with moderate, substantial, or severe intensity. (medscape.com)
  • Variants in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • A molecular diagnosis can be established in an individual with characteristic features and identification of a heterozygous pathogenic variant in SCN5A or one of the additional 42 genes associated with Brugada syndrome. (nih.gov)
  • Cauda equina syndrome is diagnosed based on characteristic symptoms and confirmed by neurologic and radiology testing. (medicinenet.com)
  • Cauda equina syndrome is clinically diagnosed based on the characteristic symptoms described above. (medicinenet.com)
  • Olson found that mice with just two copies of DSCR but three copies of the rest of the chromosome did have the shorter bones characteristic of Down syndrome. (eurekalert.org)
  • Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. (medscape.com)
  • Around one in 4000 is born with this syndrome, which arises from a deletion of a short segment of chromosome 22. (scienceblogs.com)
  • Down syndrome is the term for a set of cognitive and physical symptoms that can result from having an extra copy or part of a copy of chromosome 21. (specialolympics.org)
  • Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21. (specialolympics.org)
  • Down Syndrome occurs when an individual has an extra partial, or whole, copy of chromosome 21. (cdc.gov)
  • Chromosome 21 plays a key role in the relationship between Down syndrome and Alzheimer's disease as it carries a gene that produces one of the key proteins, amyloid protein, involved with changes in the brain associated with Alzheimer's. (cdc.gov)
  • Angelman syndrome is caused by the mutation or complete deletion of a specific gene on a chromosome. (medicinenet.com)
  • Down syndrome occurs when three -- instead of two -- copies of chromosome 21 are present in a fertilized egg, although rare cases occur when a section of the chromosome -- rather than the whole chromosome -- is found in triplicate in a situation called segmental trisomy. (eurekalert.org)
  • Mice with only one copy of DSCR were smaller than normal, similar to a well-studied mouse version of Down syndrome that has three copies of many more of the genes found on human chromosome 21. (eurekalert.org)
  • Breeding the single-DSCR with the well-studied Down syndrome mouse produced a mouse with only two copies of DSCR but three copies of all other genes on mouse chromosome 16. (eurekalert.org)
  • Some authors have concluded that muscarinic signs do not occur in patients with the intermediate syndrome (although - as noted above - sweating, anxiety, and restlessness, attributed to hypoxia, were noted). (cdc.gov)
  • Lynch syndrome (LS) is the most common hereditary syndrome associated with increased risk of colorectal cancer (CRC), accounting for about 3% of CRC patients. (cdc.gov)
  • 2003), MRI images from 27 patients fulfilling the diagnostic criteria of Susac's syndrome were reviewed. (wikipedia.org)
  • Multiple sclerosis (MS) and acute disseminated encephalomyelitis (ADEM) can mimic the MRI changes seen in patients with Susac's syndrome. (wikipedia.org)
  • Of those patients who have been diagnosed with Heerfordt syndrome, 15% have a close relative who also has the syndrome. (wikipedia.org)
  • Le syndrome des antiphospholipides a été diagnostiqué chez 11 patients : neuf patients ont été traités avec succès par photocoagulation au laser associant un traitement anticoagulant et antiagrégant. (who.int)
  • The majority of patients have a slower-onset form of Budd-Chiari syndrome. (wikipedia.org)
  • Koga C, Sugita K, Kabashima K, Matsuoka H, Nakamura M, Tokura Y. High responses of peripheral lymphocytes to mosquito salivary gland extracts in patients with Wells syndrome. (medscape.com)
  • The effect of triple therapy on the mortality of catastrophic anti-phospholipid syndrome patients. (medscape.com)
  • The outlook for patients affected by cauda equina syndrome is determined by the extent of damage to involved nerve tissue. (medicinenet.com)
  • Patients with Apert syndrome have varying degrees of webbed or fused fingers and toes ( Syndactyly ). (childrens.com)
  • Patients with Apert syndrome are at a high risk for hydrocephalus . (childrens.com)
  • Approximately 80% of patients with CS, 60% patients with BRRS, 20% of patients with PS/PSL syndrome will have a PTEN mutation identifiable by sequencing. (cincinnatichildrens.org)
  • This is called hepatopulmonary syndrome (HPS) and it occurs in approximately 5-32% of patients with scarring of the liver (cirrhosis)1. (rarediseases.org)
  • The risk that a child will inherit the familial pathogenic variant and develop Brugada syndrome may be less than 50% because of reduced penetrance and the possibility of other genetic and environmental factors. (nih.gov)
  • Wyburn-Mason syndrome has no reported racial predilection, and there is no familial form of the syndrome. (medscape.com)
  • Kristen Jordan Shamus, Detroit Free Press , 9 July 2019 At 3 years old, her son Jaxson was diagnosed with nephrotic syndrome . (merriam-webster.com)
  • These cases are known as idiopathic Budd-Chiari syndrome. (wikipedia.org)
  • Primary Budd-Chiari syndrome occurs due to thrombosis of the hepatic vein. (wikipedia.org)
  • Budd-Chiari syndrome is also seen in tuberculosis , congenital venous webs and occasionally in inferior vena caval stenosis . (wikipedia.org)
  • An important non-genetic risk factor is the use of estrogen-containing forms of hormonal contraception , which is implicated in 22% of cases of Budd-Chiari syndrome. (wikipedia.org)
  • Any obstruction of the venous vasculature of the liver is referred to as Budd-Chiari syndrome, from the venules to the right atrium . (wikipedia.org)
  • Wells syndrome (eosinophilic cellulitis) following vaccination: Two pediatric cases with positive patch test to aluminium salts. (medscape.com)
  • The Cure Mito Foundation, a parent-led organization dedicated to advancing research and treatments for Leigh syndrome, has launched the first-of-its-kind online resource about Leigh syndrome, the most common type of pediatric mitochondrial disease. (news-medical.net)
  • What are the signs and symptoms of Pediatric Alagille Syndrome? (childrens.com)
  • How is Pediatric Alagille Syndrome diagnosed? (childrens.com)
  • What are the signs and symptoms of Pediatric Apert Syndrome? (childrens.com)
  • Microglia, a type of central nervous system cell, is primarily responsible for neuronal death in Leigh Syndrome and the neurological symptoms related to this mitochondrial disease. (news-medical.net)
  • Treatment and prognosis for intermediate syndrome. (cdc.gov)
  • Magnesium sulfate ( Epsom Salts ) has been proposed as a treatment for Irukandji syndrome after being apparently successfully used in one case. (wikipedia.org)
  • In recent decades, thanks to appropriate support and treatment, life expectancy for people with Down syndrome has increased dramatically: from 25 years in 1983 to more than 60 years today. (specialolympics.org)
  • Identification of attention problems and other psychiatric comorbidities will be an important element in developing appropriate educational and treatment goals to benefit individuals with Noonan syndrome" (Pierpont et al. (bartleby.com)
  • The outlook for children with Reye syndrome has improved thanks to earlier diagnosis and better treatment. (kidshealth.org)
  • But it's best to be sure because early diagnosis is the key to successful treatment of Reye syndrome. (kidshealth.org)
  • Treatment of Apert syndrome will vary between individuals. (medicalnewstoday.com)
  • What is the treatment for cauda equina syndrome? (medicinenet.com)
  • Women who have a really bad infection and delay treatment-or only partially complete therapy-risk persistent symptoms, reinfection, or much longer, chronic syndromes," says Roger Dmochowski, MD, professor of urology at Vanderbilt University and member of the American Urological Association. (oprah.com)
  • If your irritable male syndrome is caused by a decrease in testosterone levels, one of the main treatment options is testosterone replacement therapy. (healthline.com)
  • Mental health treatment is important if your relationship is affected by irritable male syndrome. (healthline.com)
  • With this in-depth knowledge we will be able to analyze more effectively if the child has characteristics of ADHD or of the "Mouth Breathing Syndrome" and from there to properly guide the families and school staff in the search of a specific treatment the needs of the child. (bvsalud.org)
  • It is not yet known why this syndrome occurs, but Down syndrome has always been part of the human condition. (cdc.gov)
  • Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. (medlineplus.gov)
  • The worldwide incidence of Wyburn-Mason syndrome is also rare. (medscape.com)
  • [ 47 ] Also consider terbinafine-induced DRESS (drug reaction with eosinophilia and systemic symptoms) syndrome. (medscape.com)
  • This should provide the population using well defined diagnostic criteria, and over time may indicate if the syndrome is stable or increasing in frequency. (cdc.gov)
  • The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome . (medlineplus.gov)
  • In these cases, affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by variants in genes involved in RAS/MAPK signaling. (medlineplus.gov)
  • present in Noonan Syndrome. (bartleby.com)
  • Noonan Syndrome is a dominant gene pattern. (bartleby.com)
  • with the Noonan Syndrome! (bartleby.com)
  • This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! (bartleby.com)
  • first diagnosis of Noonan syndrome was in 1883 by means of Kobylinski. (bartleby.com)
  • webbing is one of the main symptoms of Noonan syndrome. (bartleby.com)
  • According to the National Down Syndrome Society, about 30% of people with Down Syndrome who are in their 50s have Alzheimer's disease. (cdc.gov)
  • NDSS had the opportunity to advise Mattel to ensure the doll reflected characteristics and symbols of Down syndrome. (ndss.org)
  • A liver biopsy means we study a small sample of liver tissue, which can have certain characteristics that indicate Alagille's syndrome. (childrens.com)
  • For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk. (specialolympics.org)
  • Compression of the spinal cord at this level can lead to a number of typical symptoms of the syndrome (low back pain , sciatica , saddle sensory changes, bladder and bowel incontinence , and lower extremity motor and sensory loss). (medicinenet.com)
  • This article will provide an overview of Apert syndrome, including the symptoms, treatments, and outlook for this condition. (medicalnewstoday.com)
  • What treatments are available for irritable male syndrome? (healthline.com)
  • Accordingly, I urge all DiGeorge researchers, "DiGeorge families", and the entire medical community to respect and honor the remarkable man who first described the syndrome and who discovered the role of the thymus gland in human function by continuing to call it what it is, DiGeorge Syndrome. (scienceblogs.com)
  • Researchers also know some, but not all, of the risk factors for Down syndrome. (specialolympics.org)
  • After five years of work, Johns Hopkins researchers report that a particular genetic region long assumed to be a critical factor in Down syndrome isn't nearly as important as once thought. (eurekalert.org)
  • Now researchers can take a deep breath, accept that the syndrome is complex, and move forward. (eurekalert.org)
  • DSCR doesn't seem to be required for Down syndrome-like features to result, either, the researchers report. (eurekalert.org)
  • That "hybrid" mouse was similar to its Down syndrome parent but more mildly affected, the researchers report. (eurekalert.org)
  • In some persons, the symptoms of CFS develop following an otherwise self-limited illness, such as influenza, infectious mononucleosis, acute cytomegalovirus (cy-to-meg-lo-virus) infections, or a nonspecific acute viral syndrome. (cdc.gov)
  • The intermediate syndrome is a delayed-onset of muscular weakness and paralysis following an episode of acute cholinesterase inhibitor poisoning. (cdc.gov)
  • [2] The syndrome can be fulminant , acute, chronic, or asymptomatic. (wikipedia.org)
  • Churg-Strauss syndrome is also called eosinophilic granulomatosis with polyangiitis, or EGPA. (webmd.com)
  • Ghislain PD, Van Eeckhout P. Eosinophilic cellulitis of papulonodular presentation (Wells' syndrome). (medscape.com)
  • Holme SA, McHenry P. Nodular presentation of eosinophilic cellulitis (Wells' syndrome). (medscape.com)
  • Eosinophilic cellulitis (Wells' syndrome) associated with colon carcinoma. (medscape.com)
  • Heelan K, Ryan JF, Shear NH, Egan CA. Wells syndrome (eosinophilic cellulitis): Proposed diagnostic criteria and a literature review of the drug-induced variant. (medscape.com)
  • Chronic Fatigue Syndrome, or CFS, comprises a complex of symptoms characterized by chronic, debilitating fatigue and other nonspecific symptoms. (cdc.gov)
  • Chronic fatigue syndrome (CFS) is a complex and serious illness that is often misunderstood. (medscape.com)
  • Experts have noted that the terminology "chronic fatigue syndrome" can trivialize this illness and stigmatize persons who experience its symptoms. (medscape.com)
  • [ 1 ] The name was coined by a group of clinicians convened by CDC in the late 1980s to develop a research case definition for the illness, which, at the time, was called chronic Epstein-Barr virus syndrome. (medscape.com)
  • Beyond myalgic encephalomyelitis/chronic fatigue syndrome: redefining an illness. (medscape.com)
  • Can an Aspirin a Day Prevent Colorectal Cancer in People with Lynch Syndrome? (cdc.gov)
  • Identifying people with Lynch syndrome could have substantial health benefits for them, their families, and communities. (cdc.gov)
  • The theory of sanitation syndrome implicated urban whites in creating segregated cities in South Africa, as many of the people causing and complicit with the forced relocations were members of the urban middle and upper classes. (wikipedia.org)
  • The syndrome was given its name in 1952 by Hugo Flecker , after the Aboriginal Irukandji people who live in Palm Cove , north of Cairns , Queensland , Australia , where stings are common. (wikipedia.org)
  • however, two people in Australia are believed to have died from Irukandji stings, [10] which has greatly increased public awareness of Irukandji syndrome. (wikipedia.org)
  • Heart defects occur in most people with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Some people with the signs and symptoms of cardiofaciocutaneous syndrome do not have an identified variant in the BRAF , MAP2K1 , MAP2K2 , or KRAS gene. (medlineplus.gov)
  • People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). (medlineplus.gov)
  • in people with DICER1 syndrome, the cysts develop early in childhood. (medlineplus.gov)
  • People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). (medlineplus.gov)
  • The degree of intellectual disability in people with Down syndrome varies but is usually mild to moderate. (specialolympics.org)
  • Cognitive impairment-which means problems with thinking and learning-is common in people with Down syndrome and usually ranges from mild to moderate. (specialolympics.org)
  • They describe different types of psychogenic illnesses from the 18th-century belief that listening to certain musical instruments made people ill, to telephone sickness and Wind Turbine Syndrome as they analyse mass hysteria through the ages. (springer.com)
  • About 50% of people with Down syndrome in their 60s have Alzheimer's disease. (cdc.gov)
  • In observance of Sept. 21 as World Alzheimer's Day and recognition that people with Down syndrome have an increased risk of developing Alzheimer's, CDC and its partners are focused on sharing information and resources to help support people with Down syndrome, their families, caregivers, health care providers, and public health professionals. (cdc.gov)
  • Estimates for the number of people with Down syndrome in the United States have grown from nearly 50,000 in 1950 to 206,366 in 2010. (cdc.gov)
  • 3 Some estimates put the worldwide population of people with Down syndrome at more than 6 million. (cdc.gov)
  • Scientists think the increased risk of Alzheimer's disease among people with Down syndrome results from the extra genes present as well as other health issues such as congenital heart defects. (cdc.gov)
  • About 50% of people with Down syndrome have a congenital heart defect - a condition rarely seen in the general population. (cdc.gov)
  • Many people with Down syndrome are diagnosed with Alzheimer's disease in their 50s, but it is not uncommon for symptoms to occur in their late 40s. (cdc.gov)
  • The presence of Alzheimer's disease in people with Down syndrome can lead to a rapid, progressive decline in brain health. (cdc.gov)
  • Many family members and caregivers observe that people with Down syndrome appear to "slow down" in their late 40s and 50s. (cdc.gov)
  • People with the syndrome describe a tic like a sneeze - impossible to hold in without extreme discomfort. (cnn.com)
  • People with Apert syndrome may have an average level of intellect, or a mild to moderate intellectual impairment. (medicalnewstoday.com)
  • The central nervous system's messages to the muscles are disrupted in people with Angelman syndrome. (medicinenet.com)
  • With the correct intervention, people with Angelman syndrome can strengthen their muscles, improve their gross motor skills, and lead better life. (medicinenet.com)
  • People with Angelman syndrome frequently smile and laugh and have happy, excitable personalities. (medicinenet.com)
  • Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma). (medlineplus.gov)
  • Rarely do they present with a history of persistent occlusive syndrome: This is the case of a 59-year-old man who underwent an aortic-bi-femoral bypass five years ago, presenting with dyspepsia and biliary vomiting. (sciencedaily.com)
  • Cauda equina syndrome is a complication from the compression of the nerves at the end of the spinal cord within the spinal canal. (medicinenet.com)
  • Cauda equina syndrome can be caused by any condition that results in direct irritation or pinching of the nerves at the end of the spinal cord. (medicinenet.com)
  • Partial cauda equina syndrome is the terminology that applies when there is incomplete compression of the nerves of the lower spinal cord. (medicinenet.com)
  • Reeves' lab is now testing another long-standing but poorly supported tenet of Down syndrome research by using the mouse models to study the involvement of neural crest cells, precursors to structures affected in Down syndrome, including the face, heart and the nerves that serve the intestines. (eurekalert.org)
  • According to the Centers for Disease Control and Prevention, approximately 6,000 babies are born in the United States each year with Down syndrome, or approximately 1 out of every 691 live births. (specialolympics.org)
  • This medicine can put your disease into remission, which is when you no longer have any symptoms or signs of Churg-Strauss syndrome. (webmd.com)
  • The goal in treating Churg-Strauss syndrome is to put your disease into remission. (webmd.com)
  • Diagnosing Alzheimer's disease in a person with Down syndrome can be difficult because of the challenges involved in assessing thinking-skill changes in persons with intellectual disabilities. (cdc.gov)
  • Recent Examples on the Web Ameera did indeed have a kidney disease, explaining her nephrotic syndrome symptoms. (merriam-webster.com)
  • Many children with Alagille syndrome show jaundice and other signs of liver disease in the early months after being born. (childrens.com)
  • If we know or suspect your child has Alagille syndrome, we do additional tests to check on their liver, kidneys, heart and other organs that are often affected by the disease. (childrens.com)
  • The hepatopulmonary syndrome (HPS) is a rare lung complication of liver disease. (rarediseases.org)
  • DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. (medlineplus.gov)
  • PHTS is associated with predisposition for benign and malignant hamartoma tumors and includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome, and Proteus-like syndrome. (cincinnatichildrens.org)
  • Individuals with Cowden syndrome (CS) have an increased risk for tumors of the thyroid, breast, and endometrium. (cincinnatichildrens.org)
  • Angelman syndrome usually manifests itself as developmental delays between the ages of 6 and 12 months. (medicinenet.com)
  • Make an appointment with a doctor if your child appears to have developmental delays or other signs or symptoms of Angelman syndrome. (medicinenet.com)
  • Children with Apert syndrome can have various degrees of learning problems and developmental delays. (childrens.com)
  • The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • What Are the Signs & Symptoms Reye Syndrome? (kidshealth.org)
  • The signs and symptoms of Reye syndrome almost always follow the start of a viral illness, such as an upper respiratory tract infection ( a cold , the flu, etc.), a diarrheal illness, or chickenpox. (kidshealth.org)
  • Approximately twelve of them have Lynch syndrome, a hereditary condition that increases the risk of colorectal cancer and other cancers. (cdc.gov)
  • Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Yih WK, Weintraub E, Kulldorff M. No risk of Guillain-Barré syndrome found after meningococcal conjugate vaccination in two large cohort studies external icon . (cdc.gov)
  • Simpson JK, Patalay R, Francis N, Roberts N. Influenza Vaccination as a Novel Trigger of Wells Syndrome in a Child. (medscape.com)