Scroll down to find links related to Noonan syndrome, in the following categories: 

General  InformationResourcesDiagnosisCardiology,  Cognition/Behavior/Language

DermatologyFeedingGastroenterologyGrowthHematologyLymphaticMotor Development, Neurology/Neurosurgery (brain tumors, Chiari malformations, tethered cord)OncologyOphthalmologyOral & Maxillofacial (dental, orthodontics, & multiple giant cell lesions), OrthopedicsOtolaryngologyPainOther Journal ArticlesOrganizations & Online GroupsResearch OpportunitiesBlogs/Vlogs/Podcasts, and Miscellaneous


I do my best to keep this list updated and hope you find it useful.  If you find any broken links or know of an article, blog, or research opportunity that you think should be added, please contact me.


General Information

·        Noonan syndrome: improving recognition and diagnosis

2022 article by Martin Zenker, Thomas Edouard, Joanne C Blair, and Marco Cappa from Archives of Disease in Childhood

·        Noonan syndrome
2013 article by Amy E. Roberts, Judith E. Allanson, Marco Tartaglia, and Bruce D. Gelb from The Lancet 

·        Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines 
2010 article from Pediatrics, the official journal of the American Academy of Pediatrics  

·        Gene Reviews:  Noonan Syndrome
This was written by Dr. Amy Roberts.  It was last updated on February 17, 2022.  The "Revision History" at the bottom of the page is helpful in quickly checking out what is new.

·        Noonan Syndrome Article at MedScape
This was last updated on April 22, 2022.

·        Noonan Syndrome at National Organization for Rare Disorders (NORD)
This was updated in 2019.

·        "Noonan Syndrome" at Medline Plus,  National Library of Medicine of National Institutes of Health (NIH)
last updated June 1, 2018 

·        "Noonan Syndrome" in MedlinePlus Medical Encyclopedia, National Library of Medicine of National Institutes of Health (NIH)
last reviewed on January 6, 2022

·        "About Noonan Syndrome" from National Human Genome Research Institute of National Institutes of Health (NIH)
last updated in Dec. 2013

·        "Noonan Syndrome" at
last updated in 2023

·        “What Are The RASopathies?” 2016 video from RASopathies Net and YourekaScience (edited in 2021)

·        Overview of the genetics of Noonan syndrome

2014 Noonan Syndrome Foundation webinar by Dr. Patroula Smpokou, a geneticist, is available for free on YouTube.



·        Noonan Syndrome Clinical Management Guidelines
This guide was produced with funding from "DYSCERNE: A Network of Centres of Expertise for Dysmorphology" in the United Kingdom.  Version 1 was created in February 2010 and was last reviewed in February 2011; a review was scheduled for 2015.  The project did not receive ongoing funding so the Dyscerne web site no longer exists, but permission has been received to share the guidelines here.  

·        GEMSS - Genetic Education Materials for School Success

“The aim of GEMSS is to assure all children with genetic health conditions succeed in school-life.”  This link is to their section on Noonan syndrome, which may be especially useful to teachers who have students with Ns.

·        Resources from The MIND Group:

o   Talking With Your Child About Noonan Syndrome: A Guide for Caregivers

This free resource was published in 2018; it was written by Rene Pierpont & Saakshi Daswani.  Permission has been received to share a PDF here. 

o   Attention and Executive Function Concerns in Children with Noonan Syndrome: A Guide for Teachers

This free resource was published in 2020; it was written by Meghan Clifford & Rene Pierpont. Permission has been received to share a PDF here.  

o   Anna's Big Week: A Story About Living with Noonan Syndrome

This 2018 picture book for children, by Rene Pierpont and Saakshi Daswani, is a story about a 9-year-old girl with Noonan syndrome.

·        Clinical features, diagnosis and management guidelines for those affected by Noonan syndrome:  A Parents Guide To Noonan syndrome
This 2012 paper, by some of the leading experts in Ns, "was supported by an Independent Medical Education Grant from Novo Nordisk, Inc, through The Noonan Syndrome Support Group."  TNSSG has dissolved, but permission has been received to share the guide here.  

·        European Network on Noonan Syndrome and Related Disorders – NSEuronet Database  “a database that contains all published germline mutations in the known RASopathy genes (excluding NF1), unpublished mutations observed by the consortium partners and collaborators, as well as polymorphisms and unclassified variants”



·        RASOPATHY DIAGNOSIS ADVANCES, Quick, accurate diagnoses are now commonplace

2012 article from American Journal of Medical Genetics

·        Genetic Testing Registry from National Center for Biotechnology Information (NCBI)

As of March 2024, this site lists 545 tests for Noonan syndrome in 20 countries.

·        Noonan Spectrum Disorders/Rasopathies NGS panel from Asper Biogene - Estonia
This 37-
gene panel includes A2ML1, ACTB, ACTG1, BRAF, CBL, CHD7, DHCR7, ELN, EPHB4, FGD1, HRAS, JAG1, KAT6B, KDM6A, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NCF1, NF1, NOTCH2, NRAS, PPP1CB, PTPN11, RAF1, RAI1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, and TBX1. Turnaround time is 6 to 9 weeks.

·        Noonan Syndrome Panel from Blueprint Genetics - USA


·        Noonan and RASopathies NGS Panel from Fulgent Diagnostics - USA
This 31-gene panel includes A2ML1, ACTB, ACTG1, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SOS1, SOS2, SPRED1. Turnaround time is 3-5 weeks.

·        RASopathy/Noonan Spectrum Panel from Cincinnati Children's Heart Institute Diagnostic Lab - USA
Click on this link and then on “Congenital Heart Disease Panels” to find the link to a PDF with info. on a 31-gene (A2ML1, ACTB, ACTG1, BRAF, CBL, CDC42, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTEN, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TBCK, TSC1, TSC2) and on two less comprehensive prenatal ones. Turnaround time is 8-10 weeks for full mutation analysis and 1-2 weeks for known mutation analysis.

·        Invitae RASopathies Comprehensive Panel - USA

This 28-gene panel includes A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, and YWHAZ. Turnaround time is 10-21 calendar days.

·        Noonan Spectrum Disorders Panel from Baylor College of Medicine's Medical Genetics Laboratories - USA
This 26-gene panel includes:  
A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RASA2, RAF1, RIT1, SHOC2, SOS1, SOS2, SPRED1, SYNGAP1, TRAF7, and YWHAZ. Turnaround time is 13 days.

·        Noonan spectrum disorder NGS panel from Connective Tissue Gene Tests - USA
This 25-
gene panel includes A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, and SPRED1.Turnaround time is “typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.”

·        Noonan and Comprehensive RASopathies Panel from GeneDX - USA

This 25-gene panel includes ACML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, and SPRED1.  Turnaround time is 4 weeks.

·        Greenwood Genetic Center Rasopathy NGS Panel - USA

This 23-gene panel includes A2ML1, BRAF, CABIN1, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, and SPRY1.  Turnaround time is 8 to 10 weeks.

·        Noonan Spectrum Disorders/RASopathies Panel from Prevention Genetics - USA
This 24-gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MAPK1, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, and SPRED1.  Turnaround time: “3 weeks on average for standard orders or 2 weeks on average for STAT orders.”

·        Expanded RASopathy Panel from Partners Healthcare Center/ Personalized Medicine - USA
This 23-gene panel includes ACTB, ACTG1, BRAF, CBL, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RRAS, RIT1, SHOC2, SOS1, SOS2, and SPRED1.  Turnaround time is 4 to 6 weeks.

·        Noonan Spectrum Panel from Children's Hospital of Philadelphia - USA
This 21-gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1.  Turnaround time is 4-6 weeks.

·        Noonan Syndrome and Related Disorders Multi-Gene Panel, Blood from Mayo Clinic  - USA
This 20-gene panel includes ACTB, ACTG1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, and SPRED1.  Turnaround time is 28 to 42 days.

·        Expanded NF1 RASopathy Panel by Next-Gen Sequencing and Deletion/Duplication Analysis of LZTR1, NF1 and SPRED1 (RAS-NG) – USA

This RASopathy panel is one of a few offered by University of Alabama at Birmingham. It looks at 18 RASopathy related genes: BRAF, CBL, HRAS, KRAS, LZTR1, NRAS, MAP2K1, MAP2K2, NF1, PTPN11, PPP1CB, RAF1, RIT1, RASA2, SHOC2, SOS1, SOS2, and SPRED1) and includes deletion/duplication analysis for the NF1 and SPRED genes. Turnaround time: “30 working days for blood, saliva, or DNA; 40 working days for fresh/frozen tumor.”

·        NoonanNext from Ambry Genetics – USA

This 18-gene panel includes BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, and SPRED1. Turnaround time is 14-21 days.

·        Noonan Syndrome Genetic Testing from EasyDNA - Australia
This 14-
gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1. 



·        RASopathies and cardiac manifestations

2023 review article by Hilal, Chen, Chen, and Choudhury in Frontiers in Cardiovascular Medicine

·        Hypertrophic Cardiomyopathy in Noonan syndrome treated by MEK-inhibition

2020 letter by Gregor Andelfinger et al in Journal of the American College of Cardiology  

·        Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

2020 research review by Léa Linglart and Bruce D. Gelb in American Journal of Medical Genetics  

·        Cardiovascular disease in Noonan syndrome

2013 article by W. Prendiville,l K. Gauvreau, Erica Tworog-Dube, L. Patkin, R.S. Kucherlapati, A.E. Roberts, and R.V. Lacro from Archives of Disease in Childhood  

·        Pulmonary Hypertension in the RASopathies

2013 article by Krishna S. Vas and Jacqueline Noonan from Journal of Cardiology and Vascular Medicine



·        Neuropsychiatric phenotypes in children with Noonan syndrome

2023 Developmental Medicine & Child Neurology article by Naylor, Bruno, Shrestha, Friedman, Jo, Reiss, and Green

·        Social behavior in RASopathies and idiopathic autism

2022 Journal of Neurodevelopmental Disorders article by Foy, Hudock, Shanley, & Pierpont

·        Personality and Psychopathology in Adults with Noonan Syndrome

2019 Journal of Clinical Psychology in Medical Settings article by Roelofs et al

·        PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention

2018 Cerebral Cortex article by Johnson, Ishak, Naylor, Stevenson, Reiss, and Green

·        Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

2018 Journal of Neurodevelopmental Disorders article by Pierpont et al.

·        RASopathies are associated with a distinct personality profile

2018 American Journal of Medical Genetics Part B: Neuropsychiatric Genetics article by Bizaoui, Gage, Brar, Rauen, & Weiss

·        Learning Disability in RASopathies

2017 chapter, by I Maccora et al, of Learning Disabilities - An International Perspective (edited by Carolyn S. Ryan)

·        Psychopathological features in Noonan syndrome

2017 European Journal of Paediatric Neurology article by Perrino et al.

·        Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway

2017 Developmental Medicine and Child Neurology article by Garg, Brooks, Burns, Burkitt-Wright, Kerr, Huson, Emsley, and Green

·        Intellectual development in Noonan syndrome: a longitudinal study

2016 Brain and Behavior article by Roelofs, Janssen, Wingbermühle, Kessels, and Egger  

·        Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

2015 Journal of Pediatric Neuropsychology article by Elizabeth I. Pierpont

·        Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings

2014 Developmental Medicine & Child Neurology article by Elizabeth I. Pierpont, Erica Tworog-Dube, and Amy E. Roberts

o   A podcast discussing this article can be found at

·        Behavioral Profile in RASopathies

2014 American Journal of Medical Genetics article by Dr. Paolo Alfieri and others

·        Autism traits in the RASopathies

2013 Journal of Medical Genetics article by B. Adviento, I.L. Corbin, F. Widjaja, G. Desachy, N. Enrique, T. Rosser, S. Risi, E.J. Marco, R. L. Hendren, C.E. Bearden, K.A. Rauen, and L.A. Weiss

·        Learning and memory in children with Noonan syndrome

2013 American Journal of Medical Genetics article by Elizabeth I. Pierpont, Erica Tworog-Dube, and Amy Roberts  

·        The Language Phenotype of Children and Adolescents with Noonan Syndrome
2010 article by E.I. Pierpont, S.E. Weismer, A.E. Roberts, E. Tworog-Dube, M.E. Pierpont, N.J. Mendelsohn, and M.S. Seidenberg from Journal of Speech, Language, and Hearing Research 

·        Genotype differences in cognitive functioning in Noonan syndrome
2009 article by E.I. Pierpont, M.E. Pierpont, N.J. Mendelsohn, A.E. Roberts, E. Tworog-Dube, and M.S. Seidenberg from Genes, Brain, and Behavior 

·        Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior:Cardiofaciocutaneous Syndrome and Noonan Syndrome 
2010 article by E.I. Pierpont, M.E. Pierpont, N.J. Mendelsohn, A.E. Roberts, E. Tworog-Dube, K. A. Rauen, and M.S. Seidenberg  from  The American Journal of Medical Genetics 

·        RAS pathway, a potentially unifying theory of autism
March 2012 article by Alan Packer for Simons Foundation Autism Research Initiative



·       Increased numbers of melanocytic neoplasms in RASopathies: A systematic review and meta-analysis 2023 article from Journal of the American Academy of Dermatology

·        Dermatological manifestations in Noonan syndrome: A prospective multicentric study of 129 mutation‐positive patients 2018 article from British Journal of Dermatology 



·        Feeding Problems in Patients with Noonan Syndrome: A Narrative Review 2022 article from Journal of Clinical Medicine

·        Feeding Problems in RASopathies 2022 webinar from RASopathies Network

·        Young children with Noonan syndrome: evaluation of feeding problems

2020 European Journal of Pediatrics article by Draaisma, J.M.T., Drossaers, J., van den Engel-Hoek, L. et al.   

·        Managing Feeding Difficulties – Costello CFC, and Noonan syndromes

2013 presentation by Rebecca Howarth, a speech/language therapist of Central Manchester and Manchester Children’s University Hospitals



·        Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?

2022 article from American Journal of Medical Genetics

·        Feeding difficulties and foregut dysmotility in Noonan’s syndrome
1999 article from Archives of Disease in Childhood  



·        Growth charts for boys and girls with Noonan syndrome, created by Novo Nordisk (one of the pharmaceutical companies that produces growth hormone), are included in Noonan Syndrome Clinical Management Guidelines 

·        Vosoritide Improves Growth in Noonan Syndrome and Patients with NPR2 Mutations 2022 abstract from European Society for Paediatric Endocrinology

·        Long-Term Effectiveness and Safety of Childhood Growth Hormone Treatment in Noonan Syndrome 2021 Hormone Research in Paediatrics article

·        Response to long-term growth hormone therapy in patients affected by RAsopathies and growth hormone deficiency: Patterns of growth, puberty and final height data

2015 from American Journal of Medical Genetics

·        Height Outcome of the Recombinant Human Growth Hormone Treatment in Subjects with Noonan Syndrome: A Meta-Analysis 2014 article from the Journal of Genetic Syndromes & Gene Therapy

·        Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway 2012 article from American Journal of Medical Genetics

·        Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
2011/2012 article from Proceedings of the National Academy of Sciences of the United States of America 

·        Somatropin Information from

·        These are some of the pharmaceutical companies that produce and sell growth hormone:

o   Genotropin (Pfizer)

o   Humatrope (Lilly)

o   Norditropin (Novo Nordisk) 

o   Nutropin® (Genentech)

o   Omnitrope (Sandoz)

Many of these pharmaceutical companies offer financial assistance programs, some without any income restrictions.  There’s a list of the programs at:  . 



·        Bleeding Issues in RASopathies

2022 RASopathies Network webinar

·        RASopathies and Hemostatic Abnormalities: Key Role of Platelet Dysfunction

2021 article from Orphanet Journal of Rare Diseases

·        Coagulation Abnormalities and Hemostatic Surgical Outcomes in 142 Patients with Noonan Syndrome
2016 article from Blood, journal of the American Society of Hematology

·        Hemostatic Abnormalities in Noonan Syndrome
2014 article from Pediatrics, the official journal of the American Academy of Pediatrics

·        Bleeding disorders in Noonan syndrome
2012 article by Benjamin J. Briggs and Joseph D. Dickerman from Pediatric Blood & Cancer 

·        Imbalance of Plasminogen Activator Inhibitor Type-1 (PAI-1) and Tissue Plasminogen Activator (t-PA) Activity in Patients With Noonan Syndrome
2010 article from Journal of Pediatric Hematology/Oncology 



·        Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk
2017 article from Clinical Care Research

·        Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling
2015 article from Blood Cancer Journal 

·        JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities
2015 article from Blood

·        RAS Diseases In Children
2014 article from Haematologica, the journal of the European Hematology Association

·        “Blessing in Disguise”: Noonan Syndrome with JMML
2014 article from Archives of Disease in Childhood  

·        Juvenile myelomonocytic leukaemia and Noonan syndrome
2014 article from Journal of Medical Genetics  

·        Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
2011 article from European Journal of Human Genetics



·        Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review

2021 article from Molecular Syndromology

·        Lymphatic Webinar from the RASopathies Network, April 25th 2021

·        Case Report: Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation

2020 article from Pediatrics 

·        Imaging of central lymphatic abnormalities in Noonan syndrome

2019 article from Pediatric Radiology 

·        The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
2015 article from European Journal of Human Genetics


Motor Development

·        Motor performance in children with Noonan syndrome
2017 article from American Journal of Medical Genetics



·        Tethered Cord: Implications for the RASopathies
2024 RASopathies Network webinar

·       Management of failed Chiari decompression and intrasyringeal hemorrhage in Noonan syndrome: illustrative cases
2022 article from Journal of Neurosurgery

·        Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature
2020 article from Diagnostics



·        Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients
2018 article from European Journal of Pediatrics

·        Ocular manifestations of Noonan syndrome:  A prospective clinical and genetic study of 25 patients
2016 article from Ophthalmology



·        Orthopaedic Conditions in Ras/MAPK Related Disorders  
2011 article is from the Journal of Pediatric Orthopaedics 

·        Bone resorption in syndromes of the Ras/MAPK pathway
2011 article from Clinical Genetics:  An International Journal of Genetics, Molecular, and Personalized Medicine 



·        How common are ear, nose and throat disorders in children with Noonan syndrome and other RASopathies?

2023 article from International Journal of Pediatric Otorhinolaryngology 

·        Audiological Findings in Noonan syndrome
2016 article from Pediatric Otorhinolaryngology  

·        Otolaryngologic manifestations of Noonan syndrome
2015 article from Ear, Nose, and Throat Journal  

·        External ear anomalies and hearing impairment in Noonan Syndrome
2015 article from International Journal of Pediatric Otorhinolaryngology


Oral & Maxillofacial

·        Maxillofacial features in patients with Noonan Syndrome
2017 article from WebmedCentral Orthodontics

·        Oral manifestations of Noonan syndrome: review of the literature and a report of four cases
2014 article from Romanian Journal of Morphology and Embryology 

·        Case report: Noonan syndrome with multiple giant cell lesions and review of the literature
2012 article from American Journal of Medical Genetics  



·        Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders  

2023 article from European Journal of Pediatrics

·        Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients
2019 article from American Journal of Medical Genetics 

·        Chronic pain in Noonan Syndrome: A previously unreported but common symptom
2015 article from American Journal of Medical Genetics 


Other Journal Articles

·        Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

2018 article from Human Mutation

·        Noonan syndrome in diverse populations
2017 article from American Journal of Medical Genetics

·        Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature
2013 article from Seminars in Arthritis & Rheumatism 

·        The Face of Noonan Syndrome: Does Phenotype Predict Genotype 
2010 article from The American Journal of Medical Genetics 

·        The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
2008 article from Human Mutation



Organizations & Online Groups

Please note the different types of Facebook groups (updated in September 2019): 

Private: Only current members can see what members post, comment, and share in the group. Anybody on Facebook can see who the admins and moderators are, but only group members can see a list of other members.  Some private groups (formerly called “secret groups”) are hidden in a search and other private groups (formerly called “closed groups” are visible in a search.

Public: Anybody can see what members post, comment, and share in the group. Anybody on Facebook can see a list of the group’s members, including admins and moderators.


Organizations (when relevant, social networking is listed below main website)

·        RASopathiesNet – (partnership between RASopathies Network USA, a 501c3 Non-Profit, and the RASopathies Network UK) - main website

o   RASopathies Network -  public Facebook page

o   RASopathiesNet - Twitter page

o   rasopathiesnet – Instagram page

·        Asociación Civil Sindrome de Noonan Argentina, en Colaboración con Otras RASopatías (Argentina)

·        Noonan Syndrome Awareness Association (Australia)

·        L’association Noonan (France)

o   Association Noonan – public Facebook page

o   Association Noonan - Twitter

·        Noonan-Kinder e.V. Deutschland (Germany)

·        Associazione Nazionale Sindrome di Noonan e RASopatie (Italy)  

o   Associazione Nazionale Sindrome di Noonan e RASopatie ODV – public Facebook page

·        Angeli Noonan, Associazione Italia Sindrome di Noonan-Onlus (Italy)

o   Angeli Noonan Onlus - public Facebook page

·        Stichting Noonan Syndroom (Netherlands)

·        Asociación del Síndrome de Noonan Perú – private Facebook group

·        Federacion Española Síndrome de Noonan y otras Rasopatías - public Facebook page and Noonan España  (Spain)

o   Síndrome de Noonan en España - Información - public Facebook page

o   Noonan Andalucia – Facebook profile page

o   Asociación Sindrome De Noonan Aragon – public Facebook page

o   Asociacion Sindrome de Noonan Asturias

o   Asociación Síndrome Noonan de Cantabria

§  Asociación Síndrome Noonan de Cantabria  - public Facebook page

o   Asociación Síndrome de Noonan de Cataluña – public Facebook page

o   Síndrome de Noonan Comunidad Valenciana – public Facebook page

·        Creciendo con Noonan (Spain)

o   Asociación Creciendo con Noonan – public Facebook page

·        Noonan Syndrom Schweiz (Switzerland)

·        Noonan Syndrome Foundation (USA) - main website

o   Noonan Syndrome Foundation - public Facebook page

o   Go Team Noonan! – Twitter page

o   Noonan Syndrome Foundation - private Facebook group

o   The Noonan Syndrome Friends: The NSF Teen and Young Adult Group - private Facebook group for teenagers and young adults with Noonan syndrome, but there are some older adult members

o   Adults Living With Noonan Syndrome - private Facebook group for adults who have Noonan syndrome

o   Noonan Syndrome Angels: Support For Those Left Behind. - private Facebook group for those who have “lost loved ones to Noonan Syndrome Spectrum Disorders and other Overlapping Rasopathy Syndromes”

·        Noonan Syndrome Association (United Kingdom)

·        Noonan Syndrome Association UK - public Facebook page

·        Svenska Noonanföreningen   (Sweden)



Organizations That Focus on Issues Common to People with Noonan Syndrome

·        Adult Congenital Heart Association

·        Children's Cardiomyopathy Foundation

·        Conquer Chiari

·        The Hypermobility Syndromes Association

·        The ILC Foundation, Improving The Life of Children for children and youth with chronic pain and illness

·        National Lymphedema Network

·        The MAGIC Foundation  “An organization providing support and education regarding growth disorders in children, as well as related adult disorders.”

·        The Human Growth Foundation

·        National Scoliosis Foundation


Social Network Groups Not Associated with Any of Above Organizations

·        RASopathies Family (formerly Noonan Syndrome Family) (private Facebook Group):  This very active international group, which is not associated with any official organization, is informative and supportive.

·        SHOC2 Community Noonan-Like Syndrome (private Facebook group)

·        Noonan Syndrome Support - Ontario Canada (private Facebook group)

·        New England (USA) Noonan Syndrome Community (private Facebook group)

·        Cincinnati RASopathy Families (private Facebook group) 

·        Noonan Syndrome Midwest (private Facebook group for people in Midwest of USA)

·        Rasopathies Families Michigan (private Facebook group)

·        Noonan Syndrome TEXAS (private Facebook group) 

·        Noonan Syndrome Western North America (private Facebook group) 

·        Noonan Syndrome Support Group - Australia (private Facebook group)

·        Noonan's NZ  (private Facebook group for people in New Zealand)

·        Noonan Syndrome UK Parents Group (private Facebook group)

·        Noonan Syndrome family fun!! UK meets :)  (private Facebook group for people in the United Kingdom)

·        Noonan Syndrome Ireland  (public Facebook page)

·        CFC/Noonan/costello syndromes (RAS-MAPK Pathway) Ireland (private Facebook group)

·        Noonan CFC Costello ja muut RasoPatiat [Finnish] (private Facebook group)

·        Noonan Syndrome Scandinavia (private Facebook group)

·        SÍNDROME DE NOONAN NO BRASIL (private Facebook group)

·        SINDROME DE NOONAN EN ESPAÑOL [Spanish] (private Facebook group)

·        Por que se conozca el Sindrome de NOONAN – private Facebook group

·        Syndromes de Costello,cfc,rasopathies [French] (private Facebook group) 

·        Nos enfants noonan [French] (private Facebook group)


Research Opportunities

·        Current Studies from The MIND Group often includes studies of Noonan syndrome and other RASopathies

·        RASopathies Longitudinal Cohort Study – “The study team hopes to gain a better understanding of the characteristics and cancer risk in individuals with RASopathies, and will work to understand how the specific genetic variant of each individual contributes to their characteristics. With this information, we will be able to make more informed recommendations for cancer screening and improve treatment options for individuals with a RASopathy. We will collect health information from people who have or are at risk of developing a RASopathy, with the exception of neurofibromatosis type 1 (NF1) which is supported through other studies.” recruiting as of July 2021

·        Vosoritide for Selected Genetic Causes of Short Stature – 3 to 10-year-olds with RASopathies may be eligible for this clinical trial  active, not recruiting as of March 2024

·        Central nervous system cancers in patients with non-NF-1 RASopathies – still recruiting?

·        Survey About RASopathies, which may lead to a research study on anesthesia use in people who have them 

·        Study Looking at Relationship Between Quality of Life, Behavior, and Social Cognition In RASopathy Syndromes – This study is currently recruiting English-speaking families of 8 to 18-year-old children with RASopathies. still recruiting?

·        BRIDGE (Brain Imaging, Development, Genetics) Lab at Stanford University -  information on research studies currently recruiting – As of February 2024, there is a study recruiting 5 to 16-year-olds with Noonan syndrome.

·        Hypertrophic Cardiomyopathy Study for Individuals with Noonan Syndrome with Multiple Lentigines / LEOPARD syndrome – “We are conducting a research study at Boston Children’s Hospital (BCH) to learn more about hypertrophic cardiomyopathy (HCM) in individuals of all ages who have been diagnosed with Noonan Syndrome with Multiple Lentigines (NS-ML). NS-ML, also known as LEOPARD Syndrome. We are asking individuals to send us as many of the following medical records over the years so that we can look for patterns and trends:

o   all heart echo reports and recordings

o   clinic notes

o   genetic testing results

We believe this effort will help us better understand how HCM affects people with NS-ML, which will help us design future research studies that may help patients with this diagnosis.

If you are interested in this research study or if you would like more information, please contact the research nurse for this study, Jane Messere, RN at 857-218-3628 or at and she would be happy to provide you with more information. Thank you.” still recruiting?

·        CASPER (Cognitive and Social Profiling:  Exploring RASopathies)  UK – “The study has now finished recruiting participants and the results are being analyzed and prepared for publication.”

·        Search for Noonan syndrome at, a service of the U.S. National Institutes of Health



·        The Adventures of Tutu and Tubie
The author has two daughters, one who has Ns (NF1).

·        Bean, Bug, & Me
“The author is a thirty four year old Mum to two wonderful children (currently three and almost one), one of whom has Noonan Syndrome.” 

·        Coasting In On Fumes
This is a blog by a woman who has Ns (PTPN11) and has two young sons who also have it.

·        Dear Abby

This blog is written by the mother of Aberdeen who has Ns (KRAS).

·        Keeping Up with Tiny Titan
This blog is by Ann Yurcek, whose children include Becca (Ns-PTPN11 and many complex medical problems).

·        The Little Lamb and the Strong Lion

This is the story of Landen who has NswML (PTPN11) and has had a heart transplant.

·        lifewithcartman
Carson has Ns (PTPN11). His mother writes this blog.

·        Mom of a Noonan Warrior
Finley has Ns (SHOC2).  His mother writes this blog.

·        Noonan Mom
The author of this blog has three sons with Ns (SOS1).

·        Noonan Syndrome: Navigating the Challenges and Celebrating the Victories

This podcast is from a mother and grandmother of a child with Ns-PTPN11.

·        North West Jess
Jess has a daughter with Ns (clinical diagnosis). 
Noonan Syndrome: Our Story is her 2018 post about Ns and how it has affected their family.  

·        Nosenfantsnoonan (in French, but Google Translate is available on the top of the screen)

The author of this blog has a daughter with Ns (SHOC2).

·        PreachersWifeSpeaks
The woman who writes this blog has a son with Ns (PTPN11).

·        Saving Brigitte
This one is by the mother of Brigitte, who has Ns (SOS1).

·        Scott Shoemake's Vlog on YouTube
Vlog #2 is about Scott’s son Holden, who has Ns (KRAS).

·        Simple Tangles | untangling this thing we call life…
This blog is written by a mother of three children, one with Ns (PTPN11) and two with Asperger's syndrome.

·        The Sol Train
The mom who writes this blog has four children, including one who has Ns (RAF1). 

·        Struggling To Thrive
The blog is written by the mother of a child with Ns (SHOC2). 

·        This Noonan Life

This blog is written by an adult with Ns.

·        Welcome to the Mayr Madness!
Grace, who has Ns (PTPN11), is one of several children of the mother/blogger who writes this one. 



·        “Living with Noonan Syndrome: insights and perspectives of adults”

      2024 webinar from Stanford Medical’s BRIDGE


Families can register for a free account to track growth on this site. Their Noonan syndrome growth chart is based on from 2012.

·        Positive Exposure
Positive Exposure is a 501(c)3 charitable organization that was founded by fashion photographer Rick Guidotti. It “utilizes photography, film and narrative to transform public perceptions of people living with genetic, physical, intellectual and behavioral differences.” The gallery section of its web site includes some of Rick’s photos of people with Noonan syndrome.


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