Filter...

AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes

Select a category...

Noonan SyndromeTurner SyndromeLEOPARD SyndromeProtein Tyrosine Phosphatase, Non-Receptor Type 11SOS1 ProteinSyndromeCostello SyndromeFaciesLoose Anagen Hair SyndromePulmonary Valve StenosisEyebrowsras ProteinsAbnormalities, MultipleFailure to ThriveProtein Tyrosine PhosphatasesCherubismMutationSkin AbnormalitiesCraniofacial AbnormalitiesHeart Defects, CongenitalEctodermal DysplasiaSexual DevelopmentBezoarsLeukemia, Myelomonocytic, JuvenileGenes, Neurofibromatosis 1Germ-Line MutationDiagnostic Techniques, EndocrineNeurofibromatosis 1Cardiomyopathy, HypertrophicIntracellular Signaling Peptides and ProteinsDNA Mutational AnalysisPhenotype

SOS1PhenotypeBRAFAutosomal dominantCardiofaciocutaneous syndromeMutationsCostelloCongenital heart d1963PTPN11Clinical featuresLive birthsLEOPARDSymptomsAbnormalitiesDiagnosisGenotypeRASopathyCardiacGenetic disorderWebbed neckFeaturesOccursMalesFacialCharacteristicMolecularApproximatelyLeukemiaPatientsPeoplePersonsFoundDevelopment

SOS13

• Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. (jefferson.edu)
• 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)
• Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. (bvsalud.org)

Phenotype3

• The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. (jefferson.edu)
• 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)

BRAF1

• Mutations in KRAS , NRAS , BRAF , and MAP2K1 also have been identified, but in smaller numbers of patients. (medscape.com)

Autosomal dominant3

• Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. (biomedcentral.com)
• Costello syndrome is an autosomal dominant disorder. (forgottendiseases.org)
• Noonan syndrome occurs in either a sporadic or autosomal dominant fashion. (medscape.com)

Cardiofaciocutaneous syndrome1

• OBJECTIVES: To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). (bvsalud.org)

Mutations8

• A number of genetic mutations can result in Noonan syndrome. (wikipedia.org)
• LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. (jefferson.edu)
• In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. (jefferson.edu)
• 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)
• Costello syndrome generally results from spontaneous mutations in a gene called HRAS . (forgottendiseases.org)
• Because the mutations occur spontaneously, parents are unlikely (though not completely impossible) to have a second child with this syndrome. (forgottendiseases.org)

Costello11

• Costello syndrome is a member of a group of conditions called RASopathies . (forgottendiseases.org)
• As an example, people with Costello syndrome have an increased risk for a type of cancer called rhabodmyosarcoma, which tends to form in muscles that attach to bones (1, 2). (forgottendiseases.org)
• Other forms of cancer associated with Costello syndrome include neuroblastoma, which is a cancer that develops in nerve tissue formed very early in development (before birth). (forgottendiseases.org)
• According to one review, the lifetime cancer risk for people with Costello syndrome is 15% (2). (forgottendiseases.org)
• Costello syndrome affects many body systems, and patients typically have intellectual disability and loose skin. (forgottendiseases.org)
• Roughly two-thirds of people with Costello syndrome also have heart problems (see list below), and close to half have benign/non-cancerous tumors, including papillomas. (forgottendiseases.org)
• A diagnosis of Costello syndrome is suspected based on clinical findings, including those listed on this page. (forgottendiseases.org)
• If you suspect that your child has Costello syndrome, check with your family physician, who will compare your child's signs and symptoms with those known to occur in Costello syndrome. (forgottendiseases.org)
• If your child's doctor isn't familiar with Costello syndrome, the information from Costello Kids may help. (forgottendiseases.org)
• Distinguishing them from Costello syndrome may not be easy in young children, but the differences between the three syndromes become more obvious as children age. (forgottendiseases.org)
• Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. (medscape.com)

Congenital heart d4

• 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. (wikipedia.org)
• Noonan syndrome is the second most common syndromic cause of congenital heart disease. (wikipedia.org)
• 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)

19632

• The condition was named after American pediatric cardiologist Jacqueline Noonan, who described her first case in 1963. (wikipedia.org)
• [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)

PTPN111

• Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. (medscape.com)

Clinical features2

• These patients were previously thought to have a form of Turner syndrome , with which Noonan syndrome shares numerous clinical features. (medscape.com)
• Noonan syndrome: clinical features, diagnosis, and management guidelines. (medscape.com)

Live births1

• The incidence of Noonan syndrome is estimated to be 1 case per 1000 to 1 case per 2500 live births. (medscape.com)

LEOPARD1

• Other RASopathies include Noonan syndrome , Noonan syndrome with multiple lentigines (formally LEOPARD syndrome), neurofibromatosis type 1, cardio-facio-cutaneous (CFC) syndrome, and Legius syndrome. (forgottendiseases.org)

Symptoms2

• 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. (wikipedia.org)
• 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)

Abnormalities2

• Abnormalities in the limbs and extremities may occur in Noonan syndrome. (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)

Diagnosis1

• The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (wikipedia.org)

Genotype1

• Growth patterns of patients with Noonan syndrome: correlation with age and genotype. (medscape.com)

RASopathy1

• Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway. (wikipedia.org)

Cardiac1

• Cardiac transplantation in children with Noonan syndrome. (jefferson.edu)

Genetic disorder1

• Noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. (medscape.com)

Webbed neck2

• Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (wikipedia.org)
• A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. (handwiki.org)

Features3

• 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)
• About 25% of the individuals had Noonan-like features. (bvsalud.org)

Occurs1

• Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). (jefferson.edu)

Males1

• The final adult height of individuals with Noonan syndrome is about 161-167 cm in males and 150-155 cm in females, which approaches the lower limit of normal. (wikipedia.org)

Facial2

• The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (wikipedia.org)
• Infants with Noonan syndrome can be difficult to recognize by facial appearance alone. (medscape.com)

Characteristic1

• In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. (wikipedia.org)

Molecular1

• INTRODUCTION AND OBJECTIVES: Molecular characterization of congenital heart diseases now includes the not infrequent dysmorphic Noonan syndrome. (bvsalud.org)

Approximately1

• Approximately 25% of individuals with Noonan syndrome have mental retardation . (medscape.com)

Leukemia1

• [ 6 ] Juvenile myelomonocytic leukemia and myeloproliferative disorder have also been associated with Noonan syndrome. (medscape.com)

Patients4

• Bleeding diathesis is present in as many as half of all patients with Noonan syndrome. (medscape.com)
• 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)
• A study by Jongmans et al also demonstrated an elevated cancer risk in patients with Noonan syndrome. (medscape.com)
• Short stature, developmental delay, language difficulties and ectodermal anomalies were more frequent in CFC patients when compared with other neuro-cardio-faciocutaneous syndromes (P (bvsalud.org)

People3

• The development of the ears and auditory system may be affected in people with Noonan's syndrome. (wikipedia.org)
• This graph shows the total number of publications written about "Noonan Syndrome" by people in this website by year, and whether "Noonan Syndrome" was a major or minor topic of these publications. (jefferson.edu)
• Below are the most recent publications written about "Noonan Syndrome" by people in Profiles. (jefferson.edu)

Persons1

• Niemczyk J, Equit M, Borggrefe-Moussavian S, Curfs L, von Gontard A. Incontinence in persons with Noonan Syndrome. (medscape.com)

Found1

• 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)

Development1

• Development of the mouth may also be affected in Noonan syndrome. (wikipedia.org)