Noonan Syndrome

People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. Affected individuals may have a high arch in the roof of the mouth (high-arched palate), poor teeth alignment, and a small lower jaw (micrognathia). Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin ( also called webbing) and a low hairline at the back of the neck.

• Publication year

  1996

• Venue

  Cassidy and Allanson's Management of Genetic Syndromes

• Publication date

  1996-02-01

• Fields of study

  Not labeled

• Identifiers
  DOI 10.4267/2042/38259
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results From a National Population-Based Study

  2018cited by this paper
• Psychopathological features in Noonan syndrome.

  2018cited by this paper
• Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway

  2017cited by this paper
• Coagulation abnormalities and haemostatic surgical outcomes in 142 patients with Noonan syndrome

  2017cited by this paper
• Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

  2017cited by this paper
• Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

  2017cited by this paper
• Nutritional aspects of Noonan syndrome and Noonan‐related disorders

  2016cited by this paper
• Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome

  2016cited by this paper
• A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair

  2016cited by this paper
• Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

  2016cited by this paper
• Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials.

  2016cited by this paper
• Objective studies of the face of Noonan, Cardio‐facio‐cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway

  2016cited by this paper
• Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

  2016cited by this paper
• Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature

  2016cited by this paper
• The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study

  2016cited by this paper
• Autoimmune liver disease in Noonan Syndrome.

  2015cited by this paper
• Chronic pain in Noonan Syndrome: A previously unreported but common symptom

  2015cited by this paper
• Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

  2015cited by this paper
• Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

  2015cited by this paper
• Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

  2015cited by this paper
• Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings

  2015cited by this paper
• Cardiomyopathies in Noonan syndrome and the other RASopathies.

  2015cited by this paper
• Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

  2014cited by this paper
• Gowers’ intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome

  2014cited by this paper
• Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

  2014cited by this paper
• Next-generation sequencing identifies rare variants associated with Noonan syndrome

  2014cited by this paper
• Cardiovascular disease in Noonan syndrome

  2014cited by this paper
• Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation

  2014cited by this paper
• Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11

  2014cited by this paper
• The RASopathies.

  2013cited by this paper
• Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

  2013cited by this paper
• Association between Noonan syndrome and Chiari I malformation: a case-based update

  2013cited by this paper
• Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

  2013cited by this paper
• Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

  2013cited by this paper
• Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

  2012cited by this paper
• Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome

  2012cited by this paper
• Growth standards of patients with Noonan and Noonan‐like syndromes with mutations in the RAS/MAPK pathway

  2012cited by this paper
• Bleeding disorders in Noonan syndrome

  2012cited by this paper
• Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

  2010cited by this paper
• Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

  2010cited by this paper
• Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

  2009cited by this paper
• Noonan Syndrome: Introduction and Basic Clinical Features

  2009cited by this paper
• MAKING SENSE OF YOUR GENES: A GUIDE TO GENETIC COUNSELING

  2009cited by this paper
• Noonan syndrome: Psychological and psychiatric aspects

  2008cited by this paper
• Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation

  2008cited by this paper
• Noonan syndrome. A review.

  2008cited by this paper
• Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome

  2008cited by this paper
• Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

  2007cited by this paper
• The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene

  2007cited by this paper
• Germline gain-of-function mutations in RAF1 cause Noonan syndrome

  2007cited by this paper
• Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations

  2007cited by this paper
• SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

  2007cited by this paper
• Germline gain-of-function mutations in SOS1 cause Noonan syndrome

  2007cited by this paper
• Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation

  2006cited by this paper
• Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype

  2006cited by this paper
• Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

  2006cited by this paper
• Acute lymphoblastic leukaemia in Noonan syndrome

  2006cited by this paper
• Noonan syndrome: relationships between genotype, growth, and growth factors.

  2006cited by this paper
• Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

  2006cited by this paper
• Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome

  2006cited by this paper
• Germline KRAS mutations cause Noonan syndrome

  2006cited by this paper
• Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

  2006cited by this paper
• The olfactory route for cerebrospinal fluid drainage into the peripheral lymphatic system

  2006cited by this paper
• The natural history of Noonan syndrome: a long-term follow-up study

  2006cited by this paper
• Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

  2006cited by this paper
• Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

  2005cited by this paper
• Psychological profile of children with Noonan syndrome

  2005cited by this paper
• PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.

  2005cited by this paper
• Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

  2005cited by this paper
• PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

  2005cited by this paper
• The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

  2005cited by this paper
• Noonan syndrome and related disorders: genetics and pathogenesis.

  2005cited by this paper
• Improved final height with long‐term growth hormone treatment in Noonan syndrome

  2005cited by this paper
• Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

  2004cited by this paper
• Noonan syndrome type I with PTPN11 3 bp deletion: Structure–function implications

  2004cited by this paper
• SHP-2 and myeloid malignancies.

  2004cited by this paper
• Genotype-phenotype correlations in Noonan syndrome.

  2004cited by this paper
• Genetics and Variation in Phenotype in Noonan Syndrome

  2004cited by this paper
• Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

  2004cited by this paper
• Factor XI deficiency--from molecular genetics to clinical management.

  2003cited by this paper
• Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

  2003cited by this paper
• No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

  2003cited by this paper
• Type 1 Arnold-Chiari malformation and Noonan syndrome. A new diagnostic feature?

  2003cited by this paper
• Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio–facio–cutaneous and Costello syndromes

  2003cited by this paper
• Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

  2003cited by this paper
• PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

  2002cited by this paper
• Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

  2002cited by this paper
• Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

  2002cited by this paper
• PTPN11 mutations in LEOPARD syndrome

  2002cited by this paper
• Short stature in Noonan syndrome: response to growth hormone therapy

  2001cited by this paper
• Growth hormone therapy and growth in children with Noonan's syndrome: results of 3 years' follow-up.

  2001cited by this paper
• Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

  2001cited by this paper
• Multiple subcutaneous granular-cell tumours in a patient with Noonan syndrome.

  2000cited by this paper
• Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B.

  2000cited by this paper
• Developmental and behavioural phenotype in Noonan syndrome?

  2000cited by this paper
• Feeding difficulties and foregut dysmotility in Noonan’s syndrome

  1999cited by this paper
• Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

  1998cited by this paper
• Progressive hydrocephalus in Noonan syndrome.

  1997cited by this paper
• Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

  1996cited by this paper
• Web-neck anomaly and its association with congenital heart disease.

  1996cited by this paper

• Domain-specific phenotypic profiles in RAF1-related Noonan syndrome

  2026cites this paper
• Irreversible blindness induced by vitamin A deficiency in a child with avoidant/restrictive food intake disorder secondary to Noonan syndrome

  2026cites this paper
• Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies

  2026cites this paper
• Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort

  2026cites this paper
• PTPN11-Related Noonan Syndrome Predisposes to Multifocal Low-Grade CNS Tumors Harboring FGFR1 Variants

  2026cites this paper
• Developing a Replicable Cardiogenetic Care Model: Insights from the Saguenay–Lac-Saint-Jean Founder Population

  2026cites this paper
• RASopathy and Sudden Cardiac Death: A Literature Review

  2025cites this paper
• Noonan syndrome and autoimmune hepatitis: patient report and literature review

  2025cites this paper
• Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways

  2025cites this paper
• Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels

  2025cites this paper
• Hypertrophic cardiomyopathy combined with renal and adrenal aplasia in a male with Noonan syndrome from RAF1 variant

  2025cites this paper
• The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

  2025cites this paper
• Growth Standards for Children With Smith–Magenis Syndrome (SMS)

  2025cites this paper
• Multivessel Cerebral Occlusion in Noonan Syndrome.

  2025cites this paper
• Molecular genetics of congenital heart disease

  2025cites this paper
• Speech and language skills in a case of Watson syndrome

  2025cites this paper
• Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review

  2025cites this paper
• PTPN11 in cartilage development, adult homeostasis, and diseases

  2025cites this paper
• Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

  2025cites this paper
• The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age

  2025cites this paper
• Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment

  2025cites this paper
• Síndrome de Noonan: uma revisão de literatura

  2025cites this paper
• Clinical Spectrum of Noonan Syndrome–Associated Myeloproliferative Disorder

  2025cites this paper
• A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis

  2025cites this paper
• Unveiling the role of miRNAs in Diminished Ovarian Reserve: an in silico network approach

  2025cites this paper
• Out of Sync? Rare Genetic Disease and the Chronopolitics of Care

  2025cites this paper
• Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study

  2025cites this paper
• From Genetics to Phenotype: Understanding the Diverse Manifestations of Cardiovascular Genetic Diseases in Pediatric Populations

  2025influential citation
• 3D phenotyping in a Colombian population reveals unique population and ontogenic facial patterns in genetic and rare disorders

  2025cites this paper
• Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

  2025cites this paper
• Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review

  2025cites this paper
• Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome

  2025cites this paper
• Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice

  2025cites this paper
• EndoCompass Project: Research Roadmap for Growth Disorders

  2025cites this paper
• Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies

  2025cites this paper
• Oral Health and Dental Management Strategies in Noonan Syndrome: A Case Report

  2025cites this paper
• A New Internal Acoustic Canal Anomaly, Fused Single Internal Acoustic Canal: A Case Report

  2025cites this paper
• Efficacy of Sirolimus in Treating Refractory Lymphatic Malformation in Noonan Syndrome: A Case Study

  2025cites this paper
• Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk

  2025cites this paper
• Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin

  2025influential citation
• Yield of RASopathy Gene Panel in Karyotype-Normal or Microarray-Normal Fetuses With Increased Nuchal Translucency

  2025cites this paper
• Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review

  2025cites this paper
• Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

  2025cites this paper
• Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants

  2025cites this paper
• Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

  2025cites this paper
• Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation

  2025cites this paper
• monarchr: an R package for querying biomedical knowledge graphs

  2025cites this paper
• Germline activating sequence variations in RASopathy spectrum genes: genotype–phenotype correlation in a North Indian cohort

  2025cites this paper
• Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis

  2025cites this paper
• Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders—Part II

  2025influential citation
• Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome

  2025cites this paper
• Targeting pathological ERK1/2 signaling in cancer and beyond.

  2025cites this paper
• Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm

  2025cites this paper
• Growth hormone signaling and clinical implications: from molecular to therapeutic perspectives

  2025cites this paper
• Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature

  2024cites this paper
• From Traditional to Cutting‐Edge: Transforming Pulmonary Valve Assessment With Advanced Echocardiography Techniques

  2024cites this paper
• Rasopathy-Associated Mutation Ptpn11D61Y has Age-Dependent Effect on Synaptic Vesicle Recycling

  2024cites this paper
• Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician

  2024cites this paper
• Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

  2024cites this paper
• New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients

  2024cites this paper
• Noonan Syndrome in a Nigerian Neonate: A Case Report and Review of Literature

  2024cites this paper
• Genetics, emotion and care: Navigating future reproductive decisions in families of children with rare genetic conditions

  2024cites this paper
• Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

  2024cites this paper
• SOS1 ‐Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy—An Arrhythmia Phenotype?

  2024cites this paper
• Genchain: A Blockchain Based Genetic Disease Prediction System

  2024cites this paper
• Parenting Stress Index in Caregivers of Individuals With Noonan Syndrome

  2024influential citation
• Discovery of Novel Biomarkers with Extended Non-Coding RNA Interactor Networks from Genetic and Protein Biomarkers

  2024cites this paper
• Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review

  2024cites this paper
• Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285

  2024cites this paper
• Cardiac Phenotype and Gene Mutations in RASopathies

  2024cites this paper
• Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing

  2024cites this paper
• Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1 (2023 Version) Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases

  2024cites this paper
• Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features

  2024cites this paper
• Noonan syndrome‐like disorder: Case report and review of the literature

  2024cites this paper
• Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study

  2024cites this paper
• Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review

  2024cites this paper
• Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?

  2024cites this paper
• Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study

  2024cites this paper
• Evaluation of bleeding diathesis in patients with Noonan syndrome and comparison with thromboelastography (TEG) test results: A single center experience

  2024cites this paper
• Evaluation of Growth Characteristics and Final Height of Cases Diagnosed with Noonan Syndrome on Growth Hormone Treatment

  2024influential citation
• Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

  2024cites this paper
• Updates on germline predisposition in pediatric hematologic malignancies: What is the role of flow cytometry?

  2024cites this paper
• Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

  2024cites this paper
• Transfer Learning in Cancer Genetics, Mutation Detection, Gene Expression Analysis, and Syndrome Recognition

  2024cites this paper
• Noonan syndrome and type 1 Chiari malformation: Possible association

  2024cites this paper
• Macrocephaly and Finger Changes: A Narrative Review

  2024cites this paper
• Determination of promising inhibitors for N-SH2 domain of SHP2 tyrosine phosphatase: an in silico study

  2024cites this paper
• A Case Report of Verheij Syndrome

  2024cites this paper
• Mutation analysis of SHP2, SOS1, and SOS2 related to dysregulation of Ras/MAPK pathway in Noonan syndrome

  2024cites this paper
• Risk assessment and genetic counseling for hematologic malignancies—Practice resource of the National Society of Genetic Counselors

  2024cites this paper
• Noonan syndrome‐like phenotype associated with an ERF frameshift variant

  2024cites this paper
• Severe generalized edema in a premature neonate: A case report and literature review

  2024cites this paper
• RASopathies: Evolving Concepts in Pathogenetics, Clinical Features, and Management

  2024cites this paper
• Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib

  2024cites this paper
• Undiagnosed RASopathies in infertile men

  2024cites this paper
• Near Adult Height and Body Mass Index Changes in Growth Hormone Treated Short Children with Noonan Syndrome: The Belgian Experience

  2024influential citation
• Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

  2024cites this paper
• Understanding the Genetic and Non-Genetic Interconnections in the Aetiology of Syndromic Congenital Heart Disease: An Updated Review: Part 2

  2024cites this paper
• Simultaneous Reconstruction of Voluntary and Spontaneous Smiles and Eyelid Closure With Triple Latissimus Dorsi Muscle Flaps

  2024cites this paper
• Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy

  2024influential citation