Scroll down to find links related to Noonan syndrome, in the following categories:
General Information, Resources, Diagnosis, Cardiology,
Cognition/Behavior/Language, Dermatology, Feeding and Gastroenterology,
Growth, Hematology, Lymphatic, Motor Development, Oncology, Ophthalmology,
Oral & Maxillofacial (dental, orthodontics, & multiple giant cell lesions),
Orthopedics, Otolaryngology, Pain, Other Journal Articles,
Organizations & Online Groups, Research Opportunities, Blogs/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.
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 free abstract, full article for a fee
Noonan
Syndrome: Clinical Features, Diagnosis, and Management Guidelines
This 2010 article was published in Pediatrics, the official journal
of the American Academy of Pediatrics. free abstract, full article for a fee
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 May 18, 2020.
Noonan Syndrome
Abstract 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)
This was last updated August 18, 2020.
"Noonan
Syndrome" in MedlinePlus Medical Encyclopedia, National Library of
Medicine of National Institutes of Health (NIH)
This was last reviewed on January 28, 2020.
"Learning About
Noonan Syndrome" from National Human Genome Research Institute of National
Institutes of Health (NIH)
This was last updated on Dec. 2013.
Noonan
Syndrome Article at MayoClinic.com
This was last updated on November 30, 2016.
1 Qu’est-ce que le syndrome de Noonan? (1 What is Noonan syndrome?)
2022 video, in French but can be watched with English subtitles on some devices
2016 video from RASopathies Net and YourekaScience (edited in 2021)
Overview of the genetics of Noonan syndrome
This 2014 Noonan Syndrome Foundation webinar by Dr. Patroula Smpokou, a geneticist, is available for free on YouTube.
This 2013 RASopathies Foundation webinar by Beth Hopkins Denenberg, a pediatric genetic counselor, is available for free on YouTube.
"Noonan Syndrome: From Hither To Yon"
This 2013 RASopathies Foundation webinar by Dr. Bruce Gelb, 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:
· 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.
· 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.
· 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
This 2012 article from American Journal of Medical Genetics is available for free online through Wiley Online Library.
Genetic Testing Registry from National Center for Biotechnology Information (NCBI)
As of May 2021, this site lists 555 tests for Noonan syndrome in 20 countries.
Noonan Syndrome Panel from Blueprint Genetics - USA
This 35-gene panel includes ACTB, ACTG1, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP, SYNGAP1
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 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.
Noonan Spectrum Disorders/Rasopathies NGS panel from
Asper Biogene - Estonia
This 25-gene
panel includes A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1,
MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2,
SOS1, SOS2, SPRED1. Turnaround time is 6 to 9 weeks.
Noonan Spectrum Test from SW Thames Regional Genetics Laboratory - UK
This 23-gene panel includes A2ML1, ARAF, BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, MAP3K8, NF1, NRAS, NSUN2, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1, and SPRY1.
Greenwood Genetic Center Rasopathy Sequencing 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
20-gene panel includes A2ML1, BRAF, CBL, HRAS,
KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1,
RRAS, SHOC2, SOS1, SOS2, and SPRY1. Turnaround time: “The great
majority of tests are completed within 20 days.”
Noonan Spectrum
Panel from Children's Hospital of Philadelphia - USA
This 20-gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1,
MAP2K2, MRAS, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1,
PPP1CB. Turnaround time is 4-6 weeks.
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 is 25 working days.
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.
RASopathy Gene Panel from NewGene - UK
This 15-gene panel includes A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1,
NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, and SPRED1. Turnaround time is 40
working days.
Expanded RASopathy Panel from Partners Healthcare Center/
Personalized Medicine - USA
This
15-gene panel includes BRAF, CBL, HRAS,
KRAS, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1, RIT1, SHOC2, SOS1, and
SPRED1. Turnaround
time is 4 to 6 weeks.
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.
Noonan Spectrum Disorders Panel from Baylor College of
Medicine's Medical Genetics Laboratories - USA
This 12-gene panel includes: BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2,
NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1. Turnaround time is 42 days.
Noonan Syndrome
and Related Disorders Multi-Gene Panel, Blood from Mayo Clinic - USA
This 11-gene panel includes BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS,
PTPN11, RAF1, SHOC2, and SOS1. Turnaround time is 12 weeks.
Orphanet's List
of International Laboratories Offering NS Testing
Hypertrophic Cardiomyopathy in Noonan syndrome treated by MEK-inhibition
2020 article review by Gregor Andelfinger et al in Journal of the American College of Cardiology
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment
2020 article review by Léa Linglart and Bruce D. Gelb in American Journal of Medical Genetics free abstract, full article for a fee
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 free abstract, full article for a fee
This 2013 RASopathies Foundation webinar by Dr. Bruce Gelb, is available for free on YouTube.
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
2022 Journal of Clinical Medicine article by Wingbermühle, Roelofs, Oomens, Kleefstra, Kessels, and Egger
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 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
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 RASopthies
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. free abstract, full article for a fee
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
2015 Journal of Pediatric Neuropsychology article by Elizabeth I. Pierpont
2014 Developmental Medicine & Child Neurology article by Elizabeth I. Pierpont, Erica Tworog-Dube, and Amy E. Roberts
A podcast discussing this article can be found at https://www.youtube.com/watch?v=lZhFdJQuZGo&feature=youtu.be
Behavioral Profile in RASopathies
2014 American Journal of Medical Genetics, Part A article by Dr. Paolo Alfieri and others, free abstract, full article for a fee
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 free abstract, full article for a fee (or can be rented for five minutes at no cost through DeepDyve)
Cognition, Learning and Behaviors in Noonan Syndrome
This 2013 Noonan Syndrome Foundation webinar by Dr. Rene Pierpont, is available for free on YouTube.
The Language
Phenotype of Children and Adolescents with Noonan Syndrome
This 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 was published in the Journal
of Speech, Language, and Hearing Research and is available for free
online through US National Library of Medicine, National Institutes of Health
Genotype
differences in cognitive functioning in Noonan syndrome
This 2009 article by E.I. Pierpont, M.E. Pierpont, N.J. Mendelsohn, A.E.
Roberts, E. Tworog-Dube, and M.S. Seidenberg was published in Genes,
Brain, and Behavior and is available for free online through NIH
Public Access.
Effects of
Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive
Behavior:Cardiofaciocutaneous Syndrome and Noonan Syndrome
This 2009 article by E.I. Pierpont, M.E. Pierpont, N.J. Mendelsohn, A.E.
Roberts, E. Tworog-Dube, K. A. Rauen, and M.S. Seidenberg was
published in The American Journal of Medical Genetics and is
available for free online through University of Wisconsin's Language and
Cognitive Neuroscience Lab.
RAS pathway, a
potentially unifying theory of autism
March 2012 article by Alan Packer for Simons Foundation Autism Research
Initiative
Dermatological manifestations, management, and care in rasopathies
2022 American Journal of Medical Genetics, Part C review article free abstract, full article for a fee
2018 British Journal of Dermatology article
Feeding Problems in RASopathies, by Dagmar Tiemens, PhD Candidate, with Jos Draaisma, MD, PhD
2022 RASopathies Network webinar
Feeding Problems in Patients with Noonan Syndrome: A Narrative Review
2022 article from Journal of Clinical Medicine
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
This presentation was made by Rebecca Howarth, a speech/language therapist of Central Manchester and Manchester Children’s University Hospitals, at a 2013 meeting in the UK.
Beyond Reflux: Feeding Intolerance, Aversion, and the Interplay of Systems
2013 RASopathies Foundation webinar by Dr. Robert C. Dumont, available for free on YouTube.
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
2015 article from American Journal of Medical Genetics. Part A, free abstract, full article for a fee
This 2014 article from the Journal of Genetic Syndromes & Gene Therapy is available for free online.
This 2012 article from American Journal of Medical Genetics, Part A is available for free online through Wiley Online Library.
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 Drugs.com
These
are some of the pharmaceutical companies that produce and sell growth hormone
Genotropin (Pfizer)
Humatrope
(Lilly)
Norditropin
(Novo Nordisk)
and Norditropin
(USA)
Nutropin®
(Genentech)
Omnitrope
(Sandoz)
Saizen (EMD Serono)
Many of these pharmaceutical companies offer financial assistance programs, some without any income restrictions. There’s a list of the programs at: https://www.magicfoundation.org/Financial-Assistance/ .
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
Disordered Bleeding in Noonan's Syndrome
This 2013 Noonan Syndrome Foundation webinar by Dr. Jason L. Freedman of The Children’s Hospital of Philadelphia is available for free on YouTube.
Bleeding
disorders in Noonan syndrome
2012 article by Benjamin J. Briggs and Joseph D. Dickerman from Pediatric
Blood & Cancer free abstract, full article for a fee
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 free abstract,
full article for a fee
Cancer incidence and surveillance strategies in individuals with RASopathies
American Journal of Medical Genetics, Part C review article free abstract, full article for a fee
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
This 2015 article from Blood Cancer Journal is available free online
through Nature.com.
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 free abstract,
full article for a fee
Juvenile
myelomonocytic leukaemia and Noonan syndrome
2014 article from Journal of Medical Genetics free abstract,
full article for a fee
Cancer risk in
patients with Noonan syndrome carrying a PTPN11 mutation
This 2011 article from European Journal of Human Genetics is
available free online through Nature.com.
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study
2022 article from American Journal of Medical Genetics, Part A
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review
2021 article from Molecular Syndromology
Lymphatic Webinar from the RASopathies Network, April 25th 2021
2020 article from Pediatrics free abstract, full article for a fee
Imaging of central lymphatic abnormalities in Noonan syndrome
2019 article from Pediatric Radiology free abstract, full article for a fee
The lymphatic
phenotype in Noonan and Cardiofaciocutaneous syndrome
2015 article from European Journal of Human Genetics
Motor
performance in children with Noonan syndrome
2017 article from American Journal of Medical Genetics
Ophthalmology
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 free abstract,
full article for a fee
Orthopaedic
Conditions in Ras/MAPK Related Disorders
2011 article is from the Journal of Pediatric Orthopaedics free abstract, full
article for a fee
Bone resorption
in syndromes of the Ras/MAPK pathway
2011 article from Clinical Genetics: An International Journal of
Genetics, Molecular, and Personalized Medicine free abstract,
full article for a fee
2023 article from International Journal of Pediatric Otorhinolaryngology free abstract, full article for a fee
Audiological
Findings In Noonan syndrome
2016 article from Pediatric Otorhinolaryngology free abstract,
full article for a fee
Otolaryngologic
manifestations of Noonan syndrome
2015 article from Ear, Nose, and Throat Journal free abstract, full article for a fee
External ear
anomalies and hearing impairment in Noonan Syndrome
2015 article from International Journal of Pediatric
Otorhinolaryngology
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 free abstract,
full article for a fee
Pain in individuals
with RASopathies: Prevalence and clinical characterization in a sample of 80
affected patients
2019 article from American Journal of Medical Genetics free abstract,
full article for a fee
Chronic pain in
Noonan Syndrome: A previously unreported but common symptom
2015 article from American Journal of Medical Genetics free abstract,
full article for a fee
This is a pre-print of a 2018 article that, as of May 2018, has not been peer-reviewed.
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 free abstract,
full article for a fee
The Face of
Noonan Syndrome: Does Phenotype Predict Genotype
This 2010 article is from The American Journal of Medical Genetics is
available for free online through the National Center for Biotechonology
Information, U.S. National Library of Medicine.
The RAS/MAPK
syndromes: novel roles of the RAS pathway in human genetic disorders
This 2008 article is from Human Mutation is available for free
online through Wiley Online Library.
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)
o Asociación Civil Sindrome de Noonan Argentina, En colaboración con otras RASopatías - public Facebook page
o Sindrome de Noonan Asociacion Civil – private Facebook group
· Noonan Syndrome Awareness Association (Australia)
o Noonan Syndrome Awareness Association - NSAA – public Facebook page
· L’association Noonan (France)
o Noonan Association – public Facebook page
o Noonan Association - Twitter
· Noonan-Kinder e.V. Deutschland (Germany)
o Noonan Kinder e.v.Deutschland – public Facebook page
· Associazione Nazionale Sindrome di Noonan e RASopatie (Italy)
· Associazione Nazionale Sindrome di Noonan e RASopatie – public Facebook page
· Angeli Noonan, Associazione Italia Sindrome di Noonan-Onlus (Italy)
· Stichting Noonan Syndroom (Netherlands)
· Asociación Síndrome de Noonan Perú (Peru)
o Asociación del Síndrome de Noonan Perú – private Facebook group
· Federacion Española Síndrome de Noonan y otras Rasopatías (Spain)- public Facebook page
o Noonan Andalucia – Facebook profile page
o Asociación Sindrome De Noonan Aragon – public Facebook page
o Asociacion Sindrome de Noonan Asturias
· https://www.facebook.com/noonanasturias only accessible to those in Spain?
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
· Noonan España (Spain) – being replaced by Federacion?
o Síndrome de Noonan en España - Información - public Facebook page being replaced by Federacion?
o Por que se conozca el Sindrome de NOONAN – private Facebook group
· Creciendo con Noonan (Spain)
o Asociación Creciendo con Noonan – public Facebook page
· Svenska Noonanföreningen (Sweden)
· 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)
o Noonan Syndrome Association UK - public Facebook page
Organizations That Focus on Issues Common to People with Noonan Syndrome
· Adult Congenital Heart Association
· Children's Cardiomyopathy Foundation
· The Hypermobility Syndromes Association
· The ILC Foundation, Improving The Life of Children for children and youth with chronic pain and illness
· The MAGIC Foundation “An organization providing support and education regarding growth disorders in children, as well as related adult disorders.”
· 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.
· Noonan Syndrome Awareness (private Facebook Group – was public until Oct. 2016)
· Noonans syndrome and trametanib (private Facebook group for people who have Ns, or have children who have Ns, who are being treated with trametanib for Noonan syndrome associated conditions such as lymphangiectasia or hypertrophic cardiomyopathy)
· 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)
· Pacific Northwest Noonan Syndrome Community (private Facebook group)
· AussieAngels ( Australian Noonan Parents Group ) (private Facebook group)
· Noonan Syndrome Support Group - Australia (private Facebook group)
· Noonan's NZ (private Facebook group for people in New Zealand)
· Noonan Syndrome family fun!! UK meets :) (private Facebook group for people in the United Kingdom)
· Noonan Syndrome families Wolverhampton and surrounding areas (private Facebook group)
· Noonan Syndrome Ireland (public Facebook page)
· CFC/Noonan/costello syndromes (RAS-MAPK Pathway) Ireland (private Facebook group)
· Noonan Fl (private Facebook group for people in Finland)
· Noonan Syndrome Scandinavia (private Facebook group)
· SÍNDROME DE NOONAN NO BRASIL (private Facebook group)
· Síndrome de noonan Brasil (private Facebook group)
· SINDROME DE NOONAN EN ESPAÑOL [Spanish] (private Facebook group)
· Syndromes de Costello,cfc,rasopathies [French] (private Facebook group)
· Nos enfants noonan [French] (private Facebook group)
How Can We Support Behavioral Wellness in RASopathies? A Focus Group Study, Masonic Institute of the Developing Brain, University of Minnesota– “We are seeking research participants for focus groups that will help us to learn more about how to provide support behavioral wellness in individuals with RASopathies. To participate, you must be either the parent/caregiver of an individual with a RASopathy (listed below) between the ages of 3-25 OR you must be a young adult with a RASopathy between the ages of 18-25.
Cardiofaciocutaneous (CFC) syndrome
Costello syndrome (CS)
Neurofibromatosis type 1 (NF1)
Noonan syndrome (NS)
Participants will complete a 1.5 hour focus group in which they will be asked questions about their or their child's behavioral health history, as well as their perspectives regarding treatments for any concerns. Participants will receive a $20 gift card.” added March 2023
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.”
Vosoritide for Selected Genetic Causes of Short Stature – 3 to 10-year-olds with RASopathies may be eligible for this clinical trial
Central nervous system cancers in patients with non-NF-1 RASopathies – still recruiting?
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 Stanfor University - information on research studies currently recruiting – As of March 31, 2023, there is a study recruiting 5 to 13-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:
• all heart echo reports and recordings
• clinic notes
• 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 jane.messere@cardio.chboston.org 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.”
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.
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 blog is presented by Angie and Shawna, grandmother and mother of a child with NswML (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 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.
Families can register for a free account to track growth on this site. Their Noonan syndrome growth chat is based on https://pubmed.ncbi.nlm.nih.gov/22887833/ from 2012.
Elisabeth Faith
Parker: Motherhood, Advocacy, Movement, Community
Elisabeth is the mother of Ezra, who was found to have Ns-PTPN11 after he was
diagnosed with JMML. Her web page includes his story and resources for other
parents of children with Noonan syndrome. It is also the home of Move2Advocate,
her project to help “Rare Disease Mamas, Caregivers, Advocates, and Friends
with inspiration, accountability, and empowerment for self-care through
movement.”
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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