Complications phenotypic noonan syndrome. Medical search. Frequent questions

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)
PVS has been seen in the setting of well-defined congenital syndromes, most notably Holt-Oram syndrome, Noonan syndrome, and Leopard syndrome. (medscape.com)
A large study called the Second Natural History Study of Congenital Heart Defects analyzed the treatment, quality of life, echocardiography findings, complications, exercise responses, and predisposition to endocarditis with regards to cardiac valvular disease, and pulmonary stenosis was found to be the most benign valvular lesion. (medscape.com)
While pulmonic valvular stenosis is primarily a congenital malformation, it may also occur as part of congenital rubella syndrome. (medscape.com)
Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. (biomedcentral.com)
Congenital dilatation of the bile ducts (choledochal cyst/CDD) result in bile retention, with cholangitis, pancreatitis and malignancies as associated complications. (biomedcentral.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)
Background Neurocognitive impairment is a common complication of congenital heart disease (CHD) as well as acquired cardiovascular disease. (stanford.edu)

The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome . (medlineplus.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)
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)
Costello Syndrome is a rare condition that affects many different parts of the body. (diseasesdic.com)
Beginning in early childhood, people with Costello Syndrome additionally have an increased risk to develop certain cancerous and noncancerous tumors. (diseasesdic.com)
Costello syndrome is caused by changes (mutations) in the HRAS gene. (diseasesdic.com)
In 1971, Dr. Jack Costello, a pediatrician in New Zealand, identified two non-related individuals as having a cluster of characteristics that might be a new syndrome. (diseasesdic.com)
Some somatic mutations in the HRAS gene predispose individuals with Costello syndrome to an increased risk of neoplasms, with a 15% lifetime risk of developing malignant tumors. (diseasesdic.com)
Mutations in the HRAS gene cause Costello syndrome. (diseasesdic.com)
Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). (diseasesdic.com)
It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division. (diseasesdic.com)
Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. (diseasesdic.com)
Costello syndrome is a complex, multisystem condition, and it can lead to various complications. (diseasesdic.com)
Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). (bmj.com)

Mutation and Phenotypic Spectrum of Patients With RASopathies. (cdc.gov)
A Brief video on Bruce Gelb and his interest in RASopathies research, particularly Noonan syndrome. (rasopathiesnet.org)

Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. (cdc.gov)
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. (cdc.gov)
These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. (diseasesdic.com)
In nearly all patients with Apert syndrome, the cause is 1 of 2 FGFR2 mutations involving amino acids (Ser252Trp, Pro253Arg). (medscape.com)
The aim of this review is to describe the differences in the phenotypic expression and clinical outcomes of Sarc+ and Sarc− HCM and to briefly discuss the current knowledge about HCM caused by rare non-sarcomeric mutations. (mdpi.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)

Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. (nih.gov)
While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. (nih.gov)
Asthma is a clinical syndrome characterized by episodic reversible airway obstruction, increased bronchial reactivity, and airway inflammation. (medscape.com)
3 Additional rare autosomal dominant or recessive disorders, such as Smith-Lemli-Opitz syndrome, Timothy syndrome and CHARGE syndrome have been described as associated with autism in clinical reports. (bmj.com)
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)

Fryns-Aftimos Syndrome has an autosomal dominant inheritance pattern caused by a heterozygous mutation in the ACTB gene on chromosome 7p22. (wikipedia.org)
The most well established of these, including fragile X syndrome, tuberous sclerosis, Rett syndrome, and PTEN mutation account for up to 5% of ASDs. (bmj.com)

2021). For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (nih.gov)
For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (findzebra.com)
At present, the phenotypic heterogeneity and functional variation of human γδ T cells are increasing. (explorationpub.com)

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)

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. (cdc.gov)
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)
It is believed that developmental defects and the resulting dysfunction of the lymphatic system are the cause of primary lymphedema, as well as associated syndromes, and can be genetically determined [ 5 ]. (biomedcentral.com)

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)
We report a case of Noonan syndrome with giant coronary aneurysms.Case Report:A young woman with the phenotypic characteristics of Noonan's syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. (medscimonit.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)
Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)

The definition and classification of hypertrophic cardiomyopathy (HCM) have varied over the decades, primarily because the phenotypic expression of ventricular hypertrophy can result from a myriad of diseases, especially among children. (medscape.com)
In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms.Conclusions:These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan's syndrome. (medscimonit.com)

Background:Noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. (medscimonit.com)

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)

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)
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)
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)
Variants in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. (medlineplus.gov)

The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan's syndrome. (medscimonit.com)
While uncommon, it is the typical morphology characteristic of Noonan syndrome. (medscape.com)

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)
The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. (nih.gov)
Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. (beds.ac.uk)

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)

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)

[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)

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)

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)

Fryns-Aftimos Syndrome is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. (wikipedia.org)
The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of 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)

Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). (bmj.com)

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)
The video displays children with William's Syndrome and the common facial characteristics distinct to the genetic disorder. (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)
1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. (findzebra.com)

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)

Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan's syndrome. (medscimonit.com)
Olivieri LJ, Baba RY, Arai AE, Bandettini WP, Rosing DR, Bakalov V, Sachdev V, Bondy CA. Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in Turner syndrome. (ctsicn.org)

After publishing his findings in 1977, no further research was published on this possible syndrome until Der Kaloustian, Moroz, McIntosh, Watters, and Blainchan (1991) reported another individual with similar characteristics. (diseasesdic.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)
[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)

Cutaneous and skeletal manifestations of the 13 year old patient with Myhre syndrome we describe in this report. (biomedcentral.com)

William's Syndrome was first recognized as a unique disorder in 1961. (physio-pedia.com)

Juvenile xanthogranuloma in Noonan syndrome. (cdc.gov)

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)

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)
C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. (biomedcentral.com)

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). (ctsicn.org)
The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (lookformedical.com)

The inheritance rate is low, although when part of Noonan syndrome it is autosomal dominant. (medscape.com)

3, 4, 5] Eisenmenger syndrome associated with trisomy 13 also results in RVOTO in conjunction with other cardiac malformations. (medscape.com)

With the arrival and widespread adoption of high-throughput DNA sequencing, genetic discoveries in neurodevelopmental disorders (NDDs) and genetic syndromes are advancing very quickly. (mdpi.com)

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)

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)

Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. (medlineplus.gov)
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)

Worldwide, economic costs for asthma are more than those for tuberculosis and acquired immunodeficiency syndrome (AIDS) combined. (medscape.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)

Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. (medlineplus.gov)
The classic features of Apert syndrome, including the broad skull, bulging in the temporal area, and retrusion and vertical shortening of the maxilla. (medscape.com)

Noonan Syndrome: Common Molecular Alterations and the Consequences. (cdc.gov)

Heart defects occur in most people with cardiofaciocutaneous syndrome. (medlineplus.gov)

Supravalvular lesions may occur in the setting of TOF, Williams syndrome, and Alagille syndrome, as well as in Noonan syndrome. (medscape.com)

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)

Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels. (cdc.gov)

The most common etiologies of acquired are carcinoid syndrome, rheumatic fever, and homograft dysfunction. (medscape.com)

Anatomy1

Diseases24

Chemicals and Drugs5

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Phenomena and Processes4

Congenital8

Costello14

RASopathies2

Mutations7

Clinical5

Mutation2

Heterogeneity3

Tuberous sclerosis1

Lymphatic3

Severe5

Ventricular2

Hypertrophic1

Fragile-X syndro1

Genes4

Characteristic2

Severity4

Phenotype2

Malformation1

Stenosis1

Heterozygous1

Chromosomal1

Symptoms3

Overlap1

Distinct4

Typically1

Abnormalities3

Characteristics3

Manifestations1

Disorder1

Juvenile1

Differences1

Diagnosis2

Defective2

Inheritance1

Trisomy1

Disorders1

Tissue2

Disease1

Rare2

Tuberculosis1

Deficiency1

Features2

Molecular1

Defects1

Williams1

Occurs2

Children1

Common1