AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
Noonan SyndromeLEOPARD SyndromeSyndromeProtein Tyrosine Phosphatase, Non-Receptor Type 11SOS1 ProteinCostello SyndromeFaciesLoose Anagen Hair SyndromePulmonary Valve StenosisEyebrowsAbnormalities, MultipleFailure to ThriveCraniofacial AbnormalitiesProtein Tyrosine PhosphatasesCherubismSkin AbnormalitiesEctodermal DysplasiaBezoarsSexual DevelopmentMutationHeart Defects, CongenitalGerm-Line MutationGenes, Neurofibromatosis 1Leukemia, Myelomonocytic, JuvenileDiagnostic Techniques, EndocrineDown SyndromeMetabolic Syndrome Xras ProteinsNeurofibromatosis 1Cardiomyopathy, HypertrophicIntracellular Signaling Peptides and ProteinsPhenotype
CostelloMutationsPhenotypeAutosomalDiagnosisShort statureLEOPARDMutationRasopathiesKRASCardiofaciocutaneous syndromeGenotype163950Live birthsGenesSeverityRasopathyCharacteristicChromosomalLymphaticMyeloproliferativeClinicalSOS1MalformationNotablyMorphologyDeficiencySymptomsFacialMalignanciesTurnerChromosomeCancerIncidenceOccursTissueDisorderApproximatelyDistinctSevereCharacteristicsFeaturesPatientsIndividualsWilliams
Costello7
Mutations15
  • The pathophysiology of Noonan syndrome is not fully understood but is associated with mutations in genes that are part of the RAS/RAF/MEK/ERK signal transduction pathway, an important regulator of cell growth. (medscape.com)
  • like Noonan syndrome, all of these cancers are associated with RAS signaling pathway mutations. (medscape.com)
  • A study by Cessans et al comparing growth patterns in patients with Noonan syndrome based on genotype found that at birth, patients with PTPN11 mutations tended to be shorter and thinner than were those with mutations in SOS1 , KRAS , or Noonan syndrome with multiple lentigines-associated PTPN11 (NSML- PTPN11 ). (medscape.com)
  • Mutations in the BRAF gene are the most common cause of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • At least two mutations in the BRAF gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). (medlineplus.gov)
  • Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. (lu.se)
  • Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. (lu.se)
  • Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
  • Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. (biomedcentral.com)
  • The discussion of male infertility focuses on genetic factors impairing spermatogenesis and includes numerical chromosomal anomalies such as Klinefelter syndrome, structural chromosomal anomalies such as Y-chromosome microdeletions, certain single gene mutations, syndromic diseases, and epigenetic mutations. (ubbcluj.ro)
  • Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. (univ-paris5.fr)
  • In nearly all patients with Apert syndrome, the cause is 1 of 2 FGFR2 mutations involving amino acids (Ser252Trp, Pro253Arg). (medscape.com)
  • We used microfluidics-based PCR amplification coupled with NGS and multiplex ligation-dependent probe amplification (MLPA) to detect mutations in LDLR , APOB and PCSK9 in three phenotypic groups within the Generation Scotland: Scottish Family Health Study including 193 individuals with high total cholesterol, 232 with moderately high total cholesterol despite cholesterol-lowering therapy, and 192 normocholesterolaemic controls. (biomedcentral.com)
  • Legius syndrome , caused by SPRED1 mutations, has phenotypic overlap with neurofibromatosis type 1 (NF1) Opens in new window , but the phenotype is milder (Table X-1). (viquepedia.com)
  • Legius syndrome is associated with mutations Opens in new window in SPRED 1 gene, a gene that encodes a protein that operates in the same biological pathway as the NF1 gene product. (viquepedia.com)
Phenotype4
  • Several other genes that have been linked to a Noonan syndrome-like phenotype have been recognized as well but have been found in a very small number of persons. (medscape.com)
  • 10 13 To date, only five studies have systematically evaluated the prenatal phenotype of Noonan syndrome. (bmj.com)
  • These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
  • The study of the genotype-phenotype correlation is not simple in recently-described genetic syndromes, with limited numbers of clinical cases, but it is very important for the clinician, who has to interpret the genetic results and organize the follow-up for children with genetic syndromes. (mdpi.com)
Autosomal5
  • Fryns-Aftimos Syndrome has an autosomal dominant inheritance pattern caused by a heterozygous mutation in the ACTB gene on chromosome 7p22. (wikipedia.org)
  • However, once present Fryns-Aftimos syndrome is characterized by an autosomal dominant inheritance pattern, as previously mentioned, which means that individuals with a heterozygous or homozygous dominant genotype will display the phenotypic traits associated with the syndrome. (wikipedia.org)
  • The inheritance rate is low, although when part of Noonan syndrome it is autosomal dominant. (medscape.com)
  • Noonan syndrome occurs in either a sporadic or autosomal dominant fashion. (medscape.com)
  • Legius syndrome , initially described as a neurofibromatosis type 1-like syndrome , is a rare autosomal dominant disorder Opens in new window characterized by multiple café-au-lait macules associated with changes in skin coloring (pigmentation). (viquepedia.com)
Diagnosis5
  • Confirming a diagnosis of Fryns-Aftimos syndrome typically consists of serial single-gene testing or multigene panel of genes of interest or exome sequencing. (wikipedia.org)
  • Noonan syndrome: clinical features, diagnosis, and management guidelines. (medscape.com)
  • Author and journalist Olivia Gordon, has written a moving book about her son's diagnosis with Noonan Syndrome, and it's now published in the United States. (rasopathiesnet.org)
  • [1] Diagnosis of the syndrome can be made at birth based on physical characteristics, but a true medical diagnosis is confirmed following a diagnostic test called fluorescence in situ hybridization (FISH). (physio-pedia.com)
  • The diagnosis of Legius syndrome is suspected in patients with multiple café-au-lait maculae with or without freckling and no other NF1 diagnostic criteria in whom an NF1 mutation was excluded by mutation analysis (Messianen et al. (viquepedia.com)
Short stature3
  • Consequentially, it has been observed that those with this syndrome also have a short stature and the presence of an extra (duplicated) thumb. (wikipedia.org)
  • Noonan syndrome (MIM: 163950) is characterised by postnatal short stature, distinctive facial features, congenital heart defects, variable degree of developmental delay and other structural abnormalities. (bmj.com)
  • In syndromes in which there are differences in physical appearance, such as short stature/accelerated growth, facial dysmorphism or delayed sexual development, affected individuals can suffer from low self-esteem and this can often precipitate secondary behavioural difficulties. (herts.ac.uk)
LEOPARD1
Mutation2
Rasopathies2
KRAS1
  • 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)
Cardiofaciocutaneous syndrome8
  • The altered signaling interferes with the normal development of many organs and tissues, resulting in the characteristic features of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Heart defects occur in most people with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. (medlineplus.gov)
  • Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). (medlineplus.gov)
  • Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. (medlineplus.gov)
  • Variants in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome. (medlineplus.gov)
Genotype1
  • Growth patterns of patients with Noonan syndrome: correlation with age and genotype. (medscape.com)
1639502
  • 2021). For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (nih.gov)
  • Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al. (nih.gov)
Live births1
Genes3
  • The severity of the disorder can be determined by the size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. (wikipedia.org)
  • The severity of symptoms are linked to the size of the deletion on chromosome 7p22 because certain individuals may have a larger deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. (wikipedia.org)
  • My translational interests and contributions have spanned blood/lymphatic vascular endothelial cell biology and pathobiology in vitro and in vivo, hepatosplanchnic lymphatic/microcirculatory physiology, small animal models, in vivo lymphatic imaging, thoracic duct lymph drainage, lymphogenous cancer spread, and genomics/proteomics of lymphedema-angiodysplasia syndromes in man and experimental models, including defects, deficiency, and overexpression of human and murine lymphangio- gene-sis genes and their syndromic/phenotypic manifestations. (arizona.edu)
Severity2
  • The presentation and severity of the previously mentioned symptoms vary depending on the severity of the syndrome. (wikipedia.org)
  • The level of intellectual disability can be affected by severity of the phenotypic expression. (herts.ac.uk)
Rasopathy2
  • Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. (nih.gov)
  • A new online study by Paige Naylor, doctoral candidate at Palo Alto University in California, is recruiting families who has a child with any RASopathy syndrome between the ages of 8-18, and who can communicate in English. (rasopathiesnet.org)
Characteristic2
  • Fryns-Aftimos syndrome (also known as Baraitser-Winter Syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features. (wikipedia.org)
  • While uncommon, it is the typical morphology characteristic of Noonan syndrome. (medscape.com)
Chromosomal1
  • Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. (herts.ac.uk)
Lymphatic2
  • Treatment is focused on the symptoms of Noonan syndrome and may include cardiac therapy, growth hormone therapy, physical and speech therapy, ophthalmologic treatment, management of bleeding disorders, treatment of lymphatic problems, and urologic therapy (in males). (medscape.com)
  • I continue to work on a variety of infectious diseases and immune disorders (e.g., inflammatory bowel disease, AIDS, Kaposi sarcoma, tuberculosis, filariasis, congenital/hereditary lymphatic system syndromes, opportunistic infections/neoplasms) and direct an internationally recognized Lymphedema-Angiodysplasia clinic. (arizona.edu)
Myeloproliferative2
  • [ 6 ] Juvenile myelomonocytic leukemia and myeloproliferative disorder have also been associated with Noonan syndrome. (medscape.com)
  • The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. (lu.se)
Clinical1
SOS11
  • 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)
Malformation3
  • This syndrome is a malformation syndrome, characterized by numerous facial dysmorphias not limited to hypertelorism, iris or retinal coloboma, cleft lip, and congenital heart defects. (wikipedia.org)
  • While pulmonic valvular stenosis is primarily a congenital malformation, it may also occur as part of congenital rubella syndrome. (medscape.com)
  • Dr. State's lab has played a leading role in demonstrating the contribution of rare and de novo variation to autism spectrum disorders (ASD), Tourette disorder (TD), and brain malformation syndromes. (ucsf.edu)
Notably1
  • 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)
Morphology1
  • Macrocephaly Opens in new window was present in several individuals as well as a Noonan-like Opens in new window facial morphology. (viquepedia.com)
Deficiency2
  • Causes of male infertility - UpToDate Causes of male infertility Endocrine and systemic disorders (hypogonadotropic hypogonadism) Congenital disorders Congenital GnRH deficiency (Kallmann syndrome) Iron overload syndromes Multiorgan genetic disorders (Prader-Willi syndrome, Laurence-Moon-Biedl syndrome, familial cerebellar ataxia) Low sperm count (oligospermia) A malfunctioning immune system. (ubbcluj.ro)
  • 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)
Symptoms1
  • Fryns-Aftimos Syndrome is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. (wikipedia.org)
Facial2
Malignancies1
  • Hematologic malignancies occurred most frequently, while 2 malignancies not previously observed in Noonan syndrome were found: a malignant mastocytosis and malignant epithelioid angiosarcoma. (medscape.com)
Turner2
  • The observation that patients with Noonan syndrome have normal karyotypes was important in allowing the distinction to be made between the Turner and Noonan syndromes. (medscape.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)
Chromosome1
  • Males with Klinefelter's syndrome have an extra X chromosome, which causes abnormal development of the testicles. (ubbcluj.ro)
Cancer1
Incidence1
Occurs2
  • Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g. (nih.gov)
  • Head-banging is often associated with dental pain or upper respiratory tract infections causing sinusitis or otitis (Clarke, 2002) or gastrointestinal reflux, as commonly occurs in Cornelia de Lange syndrome. (herts.ac.uk)
Tissue2
  • In Noonan syndrome, tissue pad overgrowth within the sinuses interferes with the normal mobility and function of the valve. (medscape.com)
  • A study by Forte et al found that in both Crouzon and Apert syndrome, the bony orbit is shortened, orbital and orbital soft-tissue volumes are reduced, and the globe's volume is increased. (medscape.com)
Disorder4
  • Noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. (medscape.com)
  • William's Syndrome was first recognized as a unique disorder in 1961. (physio-pedia.com)
  • Later, A.J. Beuren described eleven new patients with the characteristics described by Williams and the disorder became known as Williams-Beuren Syndrome. (physio-pedia.com)
  • The above two pictures are from the following souce: Kaplan P, Wang P, Francke U. Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. (physio-pedia.com)
Approximately1
Distinct2
  • Type V is considered as a distinct entity as, unlike the other types, is usually associated with both cystic renal disease and liver fibrosis (Caroli syndrome). (biomedcentral.com)
  • 1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. (findzebra.com)
Severe2
  • 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)
Characteristics1
  • [1] J.C.P. Williams observed in four patients an association between supravalvular aortic stenosis and the common physical and mental characteristics of this patient population and stated that it "may constitute a previously unrecognized syndrome" [1] . (physio-pedia.com)
Features1
  • Typical NF1-associated features such as neurofibromas, iris Lisch nodules, malignant peripheral nerve sheath tumors, optic pathway gliomas, and typical osseous lesions (sphenoid wing dysplasia, pseudarthrosis, and vertebral body dysplasia) are not reported in Legius syndrome. (viquepedia.com)
Patients4
  • Bleeding diathesis is present in as many as half of all patients with Noonan syndrome. (medscape.com)
  • Noonan syndrome was first recognized as a unique entity in 1963, when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. (medscape.com)
  • The primary source of morbidity and mortality in patients with Noonan syndrome depends on the presence and type of congenital heart disease. (medscape.com)
  • Patients present with Legius syndrome have multiple café-au-lait spots Opens in new window , which are flat patches on the skin that are darker than the surrounding area. (viquepedia.com)
Individuals1
  • Café-au-lait macules Opens in new window in individuals with Legius syndrome result from biallelic SPRED 1 inactivation in melanocytes. (viquepedia.com)
Williams2
  • Supravalvular lesions may occur in the setting of TOF, Williams syndrome, and Alagille syndrome, as well as in Noonan syndrome. (medscape.com)
  • The above series of 3 pictures A, B, C was from the following journal article: Pober B, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. (physio-pedia.com)