• Jacqueline Anne Noonan (October 28, 1928 - July 23, 2020) was an American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. (wikipedia.org)
  • This is no small feat for Johannezan, who has intellectual disability and Noonan's Syndrome, a genetic disorder which includes unusual facial features, short stature, and heart issues. (touch.org.sg)
  • 90% have developmental disability  20% have autism  Communication disorder o Delayed speech o Severe hypernasality leads to poor articulation and atypical pattern of language development o May appear apraxic or dyspraxic  Increased psychiatric disorders o Bipolar, schizophrenia, mood disorders DDX  Cayler Cardiofacial Syndrome (asymmetric crying facies +conotruncal cardiac malformation): also 22q11.2 deletion  CHARGE Syndrome also features congenital heart disease, immunodeficiency, hypocalcemia, and hearing loss. (kipdf.com)
  • Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)
  • Here, we report the case of a 14-year-old boy with Noonan syndrome-like disorder in whom LMCAOA was detected following cardiopulmonary arrest. (bvsalud.org)
  • Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. (nih.gov)
  • Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disorder and is characterized by left ventricular hypertrophy (LVH), which is unexplained by abnormal loading conditions. (mdpi.com)
  • HGH is used in genetic disorder treatment for Prader-Willi syndrome and Noonan syndrome. (myelin.org)
  • LEOPARD syndrome is a complex dysmorphogenetic disorder of variable penetrance and expressivity. (medscape.com)
  • LEOPARD syndrome, also known as Noonan syndrome with multiple lentigines, is a rare autosomal dominant disorder most often caused by missense mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP2. (medscape.com)
  • Down syndrome, also known as trisomy 21, is the most common genetic disorder causing intellectual disability and the most frequently occurring human chromosomal syndrome. (medicalhomeportal.org)
  • In contrast, an indirect neighbor cell effect was observed in a mouse model of Noonan syndrome, an inherited disorder that increases the risk of developing leukemia. (emoryhealthsciblog.com)
  • Noonan syndrome is a disorder that prevents normal development in various areas of the body and is caused by a genetic mutation. (northdeltareporter.com)
  • It is a very rare syndrome characterised by short ribs, various gastrointestinal, cranial structural abnormality, post-axial polydactyly, cystic renal disease, heart and laterality disorder, ambiguous genitalia. (pediatriconcall.com)
  • Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. (biomedcentral.com)
  • She walked into our room and told us that Grayson had Noonan's Syndrome (this diagnosis was done purely by his appearance and without genetic testing), that he would likely have skeletal malformations, learning disorders, and serious heart conditions. (lymphaticnetwork.org)
  • The more specialists that came in, the more the Noonan's Syndrome diagnosis was questioned and soon it was ruled out. (lymphaticnetwork.org)
  • THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests. (kipdf.com)
  • THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests.org Gene Reviews  Cassidy SB and Allanson JE. (kipdf.com)
  • The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (handwiki.org)
  • Determining the genetic causes of inherited heart diseases provides valuable insight for molecular confirmation of clinical diagnosis, differential diagnosis of related disorders, and risk assessment of family members. (asperbio.com)
  • To confirm the diagnosis of Noonan syndrome, genetic tests are done. (msdmanuals.com)
  • 2} Differential diagnosis include Ellis-van Creveld syndrome, Acropectoral syndrome, Greig-cephalopolysyndactyly syndrome, Saldino-Noonan syndrome, Acrocallosal syndrome. (pediatriconcall.com)
  • Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. (pediatriconcall.com)
  • C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. (biomedcentral.com)
  • Securing a molecular diagnosis in this case allowed the cessation of immunosuppression, thus reducing the burden of unnecessary and potentially harmful treatment, and allowing genetic counselling. (biomedcentral.com)
  • We discuss the therapeutic implications of establishing a genetic diagnosis in this case and provide an overview of genetic mimics of scleroderma. (biomedcentral.com)
  • Use to confirm diagnosis of NF1 or Legius syndrome. (arupconsult.com)
  • Molecular testing is recommended for symptomatic individuals who do not fulfill National Institutes of Health (NIH) diagnostic criteria for NF1 (see Disease Overview) and for adults who desire prenatal or preimplantation genetic diagnosis in current or future pregnancies. (arupconsult.com)
  • Using Ion AmpliSeq Designer , they created a fully customized panel targeting 86 genes known to be implicated in Noonan syndrome and other RASopathies. (thermofisher.com)
  • Knowledge about the genetic causes of RASopathies is constantly evolving due to the efforts of clinical researchers like those at IPATIMUP. (thermofisher.com)
  • Compared with sarcomeric hypertrophic cardiomyopathy, hypertrophic cardiomyopathy in RASopathies (R-HCM) is associated with higher prevalence of congestive heart failure and shows increased prevalence and severity of left ventricular outflow tract obstruction. (nih.gov)
  • Noonan syndrome (NS) belongs to a group of genetic disorders called RASopathies that are caused by germ-line mutations that affect genes residing along the canonical RAS-MAPKinase signaling pathway. (armi.org.au)
  • The term RASopathies includes disorders with mutations in the genes that code for the proteins of the RAS/MAPK pathway, such as neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome. (medscape.com)
  • [2] The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963. (handwiki.org)
  • Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. (cdc.gov)
  • Standard genetic analysis methods involving single-gene tests are often utilized by inherited disease researchers but these methods alone may be time consuming and expensive to uncover the many variants involved in complex diseases such as Noonan syndrome. (thermofisher.com)
  • Fragile X Syndrome Genetics  PCR/Southern blot: No. of trinucleotide CGG repeats FMR1 gene o Normal: 5-44 Intermediate "gray zone": 45-54 o Premutation carrier: 55-200 Full mutation: >200  Genetic Anticipation: Maternal premutation carrier transmits unstable FMR1 allele to offspring. (kipdf.com)
  • Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. (biomedcentral.com)
  • Comprehensive genetic analysis of the dipeptidyl peptidase-4 gene and cardiovascular disease risk factors in obese individuals. (alchashop.com)
  • Noonan Syndrome - a condition that is caused by a gene abnormality on chromosome 12. (forteelements.com)
  • Previous studies show that inherited changes in the DNA code for the gene PTPN11 cause Noonan syndrome, a genetic disease that comes with a high risk for the blood cancer , JMML. (health-innovations.org)
  • [ 4 ] Molecular studies have proven that LEOPARD syndrome and Noonan syndrome are allelic disorders caused by different missense mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at band 12q24.1. (medscape.com)
  • LEOPARD syndrome may be caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene. (medscape.com)
  • In 2006, Tartaglia et al reported that germline mutations in the PTPN11 gene cause LEOPARD and Noonan syndromes, whereas somatic mutations in the same gene contribute to leukemogenesis. (medscape.com)
  • In this study, we sought to explore the wide spectrum of genetic heterogeneity associated with hearing loss in Japan, and to discover novel candidate genes associated with hearing loss, using trio analysis of probands and their parents, and four originally developed gene groups ranked by priority (tiers), as a new strategy to filter candidate variants. (biomedcentral.com)
  • Genetic heart conditions assembled in this testing menu are detectable mainly by multi-gene panels , but yet single gene testing and targeted mutation analysis are also available. (asperbio.com)
  • Noonan syndrome Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients vac ban by mut0 and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. (co.ke)
  • If we want to understand how the brain creates memories, and how genetic disorders distort the brain's machinery, then the fragile X gene is an ideal place to start. (emoryhealthsciblog.com)
  • Noonan syndrome can be inherited from a parent who has an affected gene or can occur spontaneously in a child whose parents are unaffected. (msdmanuals.com)
  • Although the underlying origin of these behaviours can sometimes be linked to a biological mechanism, such as a deficiency in the enzyme hypoxanthineguanine phosphoribosyl transferase (HPRT) in Lesch-Nyhan syndrome, in most conditions the pathway from gene to behaviour is less clear. (herts.ac.uk)
  • Neurofibromatosis type 1 (NF1) is one of the most common genetic conditions and has highly variable symptoms, even among family members with the same causative NF1 gene variant and within an individual at different times in life. (arupconsult.com)
  • One son has a rare combination of genetic abnormalities never seen together before. (handandheart.community)
  • Abnormalities in the limbs and extremities may occur in Noonan syndrome. (handwiki.org)
  • [9] Approximately 40-50% of fetuses diagnosed with AVCD have Down syndrome, and a further 15-20% are associated with other chromosomal abnormalities and syndromes, such as DiGeorge syndrome . (wikipedia.org)
  • In contrast, the RNF213 p.R4810K polymorphism has been established as a risk factor for angina pectoris and myocardial infarction in adults, and several congenital coronary malformations due to genetic abnormalities within the RAS/MAPK signaling pathway have been reported. (bvsalud.org)
  • Moynahan first documented the association of the syndrome with cardiac abnormalities and short stature in 1962. (medscape.com)
  • Mainly, hormone imbalances in the body damage patients' fertility function, common diseases include hypothalamic brain disease (such as promotional gonadotomy deficiency, congenital low -proliferation gonadotropin syndrome), pituitary diseases (such as insufficient pituitary function, high prolactin leather), and internal internal Disciplinary or exogenous hormone abnormalities (such as excessive glucocorticoids, hyperthyroidism or loss of thyroid function). (healthofeden.com)
  • Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. (cdc.gov)
  • They go on to conclude that by starting with skin cells of JMML patients with inherited PTPN11 mutations, they were able to create JMML cells with only these mutations, screening out the 'genetic noise' that can obscure disease mechanisms. (health-innovations.org)
  • Germline PTPN11 defects cause Noonan syndrome (NS), and specific inherited mutations cause NS/JMML. (health-innovations.org)
  • In 2005, Ogata and Yoshida documented that PTPN11 mutations can be identified in approximately 40% of Noonan syndrome patients and in greater than 80% of LEOPARD syndrome patients. (medscape.com)
  • [ 11 ] They revealed that whereas Noonan syndrome is caused by gain-of-function PTPN11 mutations, LEOPARD syndrome mutants are catalytically defective and act as dominant negative mutations that interfere with growth factor/Erk-mitogen-activated protein kinase-mediated signaling. (medscape.com)
  • Reported in 2005, Kalidas et al performed mutation screening and linkage analysis of PTPN11 in 3 families, each of which had a history of LEOPARD syndrome for 3 generations. (medscape.com)
  • No variations in sequence were observed in the other 2 families, and negative lod scores excluded linkage to the PTPN11 locus, showing that LEOPARD syndrome is genetically heterogeneous. (medscape.com)
  • Writzl et al reported a family with molecularly proven (p.Thr468Met in PTPN11) LEOPARD syndrome in a father and his adult son. (medscape.com)
  • 9 cm with chronic care professionals asked if left ventricle. (lorenzopetrantoni.com)
  • [ 1 ] Thus, the left ventricle slowly depolarizes by means of cell-to-cell conduction that spreads from the right ventricle to the left ventricle. (medscape.com)
  • LBBB in children is associated with cardiovascular disease, surgery, or ablation within the left ventricle and is not observed in the general population. (medscape.com)
  • And this because the left ventricle is weakened due to its overuse. (wikipedia.org)
  • An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. (nih.gov)
  • For example, in aortic valve stenosis, blood cannot move from the left ventricle into the aorta. (arrhythmia.center)
  • The heart must work harder and eventually weakens, with the result that the left ventricle enlarges and eventually stops functioning normally. (arrhythmia.center)
  • In mitral regurgitation (the mitral valve is located between the left upper and lower chambers), the left ventricle must work harder to cope with the blood flowing out. (arrhythmia.center)
  • Fabrice's work is currently supported by the Upenn Orphan disease Center, the UK Noonan syndrome Association and by the Additional Ventures Single Ventricle Research Fund Award. (armi.org.au)
  • In particular among the 30% of infants without congenital cardiac diseases born from diabetic mothers, the echocardiographic exam presents an interventricular septum and ventricular walls hypertrophy with a ratio from interventricular septal / left posterior ventricle wall higher than 1,3 [ 17 ]. (biomedcentral.com)
  • In this condition the mitral valve (the inlet valve to the left ventricle) may not work well and not infrequently there might be varying degrees (usually minor) of blood leakage from the mitral valve. (childheartspecialist.com)
  • Coronary sinus, normally located between the LEFT ATRIUM and LEFT VENTRICLE on the posterior surface of the heart, can serve as an anatomical reference for cardiac procedures. (bvsalud.org)
  • 2001). In spite of the prevalence of autistic-like behaviours in many syndromes, autism is typically associated with a few conditions only, notably tuberous sclerosis. (herts.ac.uk)
  • She was also the original describer of hypoplastic left heart syndrome. (wikipedia.org)
  • Chest x-ray showed the presence of hypoplastic ribs 5th - 10th on the left side and dextrocardia. (pediatriconcall.com)
  • Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity. (ucsd.edu)
  • Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. (ucsd.edu)
  • Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. (ucsd.edu)
  • This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes . (wikipedia.org)
  • Down Syndrome - a condition also known as trisomy 21 that develops when a baby has one extra chromosome. (forteelements.com)
  • There are no two identical cases of congenital heart disease, and there are specific genetic syndromes with a higher probability of having a defect, such as trisomy 21. (arrhythmia.center)
  • Down syndrome refers to the phenotype or the pattern of physical traits, while trisomy 21 represents the genotype, i.e., the underlying chromosomal basis of the condition. (medicalhomeportal.org)
  • [ Bull: 2022 ] A smaller percentage of individuals with Down syndrome have trisomy 21 mosaicism from postzygotic nondisjunction during mitosis of the fertilized egg or from postzygotic loss of a chromosome 21 from a trisomic zygote. (medicalhomeportal.org)
  • Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. (biomedcentral.com)
  • Researchers at the Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) has been developing targeted NGS assays to further clinical research into Noonan syndrome. (thermofisher.com)
  • Asthma is a clinical syndrome characterized by episodic reversible airway obstruction, increased bronchial reactivity, and airway inflammation. (medscape.com)
  • Turner Syndrome - an abnormality that develops when one of the two X chromosomes a baby girl inherits is partly or completely missing. (forteelements.com)
  • Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)
  • Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. (medlineplus.gov)
  • Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (handwiki.org)
  • But with Noonan syndrome, symptoms change when the patient enters puberty, as Jakob is. (northdeltareporter.com)
  • However, some specific symptoms and problems caused by the syndrome can be treated. (msdmanuals.com)
  • Symptoms of Legius syndrome (LS), such as café au lait macules, overlap with those of NF1. (arupconsult.com)
  • RASopathy disorders are a group of genetic syndromes caused by mutations in the Ras/mitogen-activated protein (MAPK) pathway. (thermofisher.com)
  • For comprehensive investigation of the genetic heterogeneity of diseases with a wide range of causative genes, such as hearing loss, and to identify novel candidate genes, WES analysis overcomes the limitations of targeted analysis and is considerably more cost-effective than whole genome sequencing (WGS) analysis. (biomedcentral.com)
  • The etiology of HCM is extremely heterogeneous, including malformation syndromes, inborn errors of metabolism, neuromuscular disorders, and in the majority of the cases mutations in cardiac sarcomere protein genes [ 5 ]. (biomedcentral.com)
  • Journal of the Association of Genetic Technologists 2020 3 46 (1): 21-23. (cdc.gov)
  • Prader-Willi Syndrome Genetics  Genotype-Phenotype correlations o Type I deletions: more compulsions, poorer adaptive skills, lower IQ and lower academic achievement  75% microdeletion paternal chromosome 15q11.2-q13. (kipdf.com)
  • The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. (cdc.gov)
  • The purpose of this case report is to encourage physicians to include Barth syndrome in the differential for cardiomyopathy of uncertain etiology in males, especially in the presence of growth delays, hypotonia, neutropenia, and/or family history of pediatric male death of unknown etiology. (uky.edu)
  • 2021). For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (nih.gov)
  • Genetic testing is also confirmatory and details the underlying mutation. (uky.edu)
  • Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. (cdc.gov)
  • While Down's syndrome is the most common cause of intellectual disability, fragile-X syndrome is the most common inherited cause of learning disability (see Sabaratnam, 2003). (herts.ac.uk)
  • One of the most common RASopathy disorders is Noonan syndrome, which is present in about 1 in 1,000 to 2,500 live births. (thermofisher.com)
  • [3] [1] Noonan syndrome is a type of RASopathy , the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway. (handwiki.org)
  • Noonan syndrome can impact many areas of the body and is typically characterized by distinct facial features, short stature, congenital heart defects, developmental delay, and other comorbid conditions. (thermofisher.com)
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. (medicalhomeportal.org)
  • Noonan syndrome often involves short stature, distinctive facial features, congenital heart defects and bleeding problems. (emoryhealthsciblog.com)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)
  • Electrocardiographic changes including left axial deviation, an abnormal R / S ratio on the left precordial leads and an abnormal Q wave, or heart rhythm disturbances in patients with hypertrophic cardiomyopathy are reported in a variable percentage of patients. (biomedcentral.com)
  • Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. (cdc.gov)
  • Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant. (cdc.gov)
  • Thus, studying an inherited human cancer syndrome with hiPSCs illuminated early oncogenesis prior to the accumulation of secondary genomic alterations, enabling us to discover microRNA dysregulation, establishing a genotype-phenotype association for JMML and providing therapeutic targets. (health-innovations.org)
  • It potentially affected by his left ventricular systole, infertility. (lorenzopetrantoni.com)
  • The classic echocardiogram finding is left ventricular noncompaction, although not always present. (uky.edu)
  • [3] [10] The remaining 30-40% of cases are not linked to a syndrome, with AVCD observed without other major defects. (wikipedia.org)
  • Other congenital anomalies (e.g., heart and gastrointestinal defects) and acquired conditions (e.g., hypothyroidism, hearing impairment, and celiac disease) occur more frequently in children with Down syndrome. (medicalhomeportal.org)
  • Objectives  Recognize features of common genetic syndromes associated with developmental disabilities. (kipdf.com)
  • Become familiar medical problems associated with these syndromes and their developmental/behavioral outcomes. (kipdf.com)
  • The development of the ears and auditory system may be affected in people with Noonan's syndrome. (handwiki.org)
  • Left bundle branch (LBB) block (LBBB) occurs when transmission of the cardiac electrical impulse is delayed or fails to be conducted along the rapidly conducting fibers of the main LBB or in both left anterior and posterior fascicles. (medscape.com)
  • Knowledge of the anatomy and electrophysiology of the cardiac conduction system from the atrioventricular (AV) junction to the distal Purkinje fibers is essential to understanding the pathophysiology of left bundle branch (LBB) block (LBBB). (medscape.com)
  • I will discuss how we can leverage our hPSC-based platform to study cardiogenesis and cardiac function in genetic disorders as a unique opportunity to discover the molecular perturbations responsible for CHDs or cardiomyopathies. (armi.org.au)
  • Combined Non-Invasive Cardiac Imaging and Genetic Testing of Elite Volleyball Players: A Ten-Year Experience. (ucsd.edu)
  • A small percentage (3-4%) of Down syndrome results from an unbalanced translocation between chromosome 21 and another chromosome (usually 13, 14, or 15). (medicalhomeportal.org)
  • Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. (uky.edu)
  • Barth syndrome presents in infancy or childhood with cardiomyopathy, hypotonia, growth delays, and cyclic neutropenia. (uky.edu)
  • Barth syndrome is transmitted in an X-linked recessive pattern. (bvsalud.org)
  • The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. (bvsalud.org)
  • [8] 45% of children with Down syndrome have congenital heart disease. (wikipedia.org)
  • The probability of having a baby with Down syndrome increases as the mother's age increases, but due to higher pregnancy rates in younger women, most children with Down syndrome are born to women under 35 years of age. (medicalhomeportal.org)
  • Noonan Syndrome: Common Molecular Alterations and the Consequences. (cdc.gov)
  • We highlight this case to provide an overview of these genetic mimics of scleroderma, and highlight the molecular pathways that can lead to pathological fibrosis. (biomedcentral.com)
  • It also notes that a variety of genetic alterations provoke leukemia when engineered into bone marrow stromal cells in mice ( like this ), but Qu and his colleagues described one that is associated with a known human disease. (emoryhealthsciblog.com)
  • The prevalence of Down syndrome varies by age (due to the combined impact of increasing life span and selective terminations decreasing birth prevalence) and country (because of dramatic differences in availability of prenatal testing and termination and population attitudes). (medicalhomeportal.org)
  • [ Mai: 2013 ] Prevalence would have been higher but for Down syndrome-related elective pregnancy terminations. (medicalhomeportal.org)
  • Genetic testing revealed c.13216delG (p.E4406Rfs*35), c.14874G>C (p.K4958N), and c.9892G>A (p.A3298T) in RYR1, and the compound heterozygosity of variants was confirmed by analysis of the parents. (bvsalud.org)
  • Treatment of short bowel syndrome that prevents absorption of nutrients in the body. (myelin.org)
  • Myhre Syndrome is a rare genetic mimic of scleroderma that should be considered alongside several other monogenic diseases presenting with pathological fibrosis from early in life. (biomedcentral.com)
  • In a number of syndromes, such as Cornelia de Lange, milder phenotypic expression is associated with less severe intellectual disability. (herts.ac.uk)
  • for example, females with fragile-X syndrome have milder phenotypic expression and less severe intellectual disability. (herts.ac.uk)
  • Health Supervision for Children with Fragile X Syndrome Pediatrics Vol. 127 No. 5 May 2011, pp. 994-1006. (kipdf.com)
  • Fragile X Syndrome - a condition that is passed down from a mother, particularly to boys. (forteelements.com)