*  Frontiers | Dusp16 Deficiency Causes Congenital Obstructive Hydrocephalus and Brain Overgrowth by Expansion of the Neural...
They include Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome and neurofibromatosis, type I (Winden et al., ... syndrome in humans is a predominantly prenatal developmental syndrome characterized by megalencephaly and bilateral perisylvian ... This clinically-defined group of syndromes is caused by germline mutations in genes encoding components or regulators of the ... Pathohistological changes in such conditions can be either prominent, as in megalencephaly syndromes (i.e., brain weight ≥2 ...
  https://www.frontiersin.org/articles/10.3389/fnmol.2017.00372/full
*  Growth Defects in Noonan Syndrome | SpringerLink
Noonan syndrome is one of the most common syndromes transmitted by a Mendelian mode and is mainly characterized by dysmorphic ... LEOPARD syndrome, cardiofaciocutaneous syndrome, Costello syndrome, and neurofibromatosis type 1. These mutations are predicted ... in the pathogenesis of Noonan syndrome as well as of four rare syndromes with phenotype overlapping with Noonan syndrome: ... Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. 2008;10:e37.PubMedCrossRefGoogle ...
  https://link.springer.com/chapter/10.1007/978-1-4419-1795-9_131
*  Autism traits in the RASopathies | Journal of Medical Genetics
... neurofibromatosis type 1 (NF1), (B) Costello syndrome (CS), (C) Noonan syndrome (NS), and (D) cardio-facio-cutaneous syndrome ( ... including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome ( ... Average transformed scores in SRS subscales for all RASopathy (7 neurofibromatosis, 10 Costello syndrome, 10 Noonan syndrome, ... neurofibromatosis type 1 (NF1) (n=66), Noonan syndrome (NS) (n=48), Costello syndrome (CS) (n=43), and cardio-facio-cutaneous ...
  https://jmg.bmj.com/content/51/1/10
*  Little-known syndrome nearly stole her 2-month-old daughter's life
Her daughter was diagnosed with Noonan Syndrome, which causes multiple major medical issues. Julie has started a foundation to ... which also includes Costello Syndrome, Neurofibromatosis Type 1 and more.. While her child was fighting to stay alive, Julie ... Noonan Syndrome is included in a larger grouping of genetically related syndromes called the RASopathies, ... Ellie has Noonan Syndrome.. Now 15 months old, Ellie spent most of her first year in and out of the pediatric intensive care ...
  http://www.dailyherald.com/article/20120810/entlife/708109927/
*  Developmental Syndromes of Ras/MAPK Pathway Dysregulation
The term RASopathies designates a group of developmental syndromes caused by germline mutations in genes that encode proteins ... Keywords: cardiofaciocutaneous syndrome; Costello syndrome; Legius syndrome; LEOPARD syndrome; neurofibromatosis; Noonan ... Costello syndrome, cardiofaciocutaneous syndrome, neurofibromatosis type 1 and Legius syndrome. Even though these syndromes ... including Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome‐like disorder with loose anagen hair, CBL ...
  http://www.els.net/WileyCDA/ElsArticle/refId-a0021426.html
*  A new horizon of moyamoya disease and associated health risks explored through RNF213 (pdf) | Paperity
... stenosis with the Disease Type I neurofibromatosis Noonan syndrome Costello syndrome Alagille syndrome Robinow syndrome Schimke ... Choi JH , Oh MY , Yum MS , Lee BH , Kim GH , Yoo HW . Moyamoya syndrome in a patient with Noonan-like syndrome with loose ... Noonan syndrome, moyamoya-like vascular changes, and antiphospholipid syndrome . Pediatr Neurol . 2004 ; 31 : 364 - 6 . doi: 10 ... Hemostatic abnormalities in Noonan syndrome . Pediatrics . 2014 ; 133 : e1299 - 304 . doi: 10 .1542/peds.2013- 3251 . 78. ...
  http://paperity.org/p/74716501/a-new-horizon-of-moyamoya-disease-and-associated-health-risks-explored-through-rnf213
*  Neuro-cardio-facial-cutaneous syndromes - Wikipedia
... and Noonan syndrome (NS). Other members are Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC) and Neurofibromatosis ... Neuro-cardio-facial-cutaneous-syndromes (NCFC), (also referred to as neuro-craniofacial-cardiac syndromes) is a group of ... The two most common syndromes under this "umbrella" are: Leopard syndrome (LS) ... These four parts are the common denominator for the syndromes, but are mostly accompanied by disturbances in other parts of the ...
  https://en.wikipedia.org/wiki/Neuro-cardio-facial-cutaneous_syndromes
*  LEOPARD Syndrome
... such as neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome, and ... cardiofaciocutaneous syndrome.[1] Molecular studies have proven that LEOPARD syndrome and Noonan syndrome are allelic disorders ... of Noonan syndrome patients and in greater than 80% of LEOPARD syndrome patients.[5] Because the vast majority of mutations ... They revealed that whereas Noonan syndrome is caused by gain-of-function PTPN11 mutations, LEOPARD syndrome mutants are ...
  http://misc.medscape.com/pi/android/medscapeapp/html/A1096445-business.html
*  MAPK activation in mature cataract associated with Noonan syndrome | BMC Ophthalmology | Full Text
... syndrome [5, 6]. Noonan-like syndromes comprising Costello syndrome (CS; OMIM 218040), cardiofaciocutaneous syndrome (CFCS, ... OMIM 115150), neurofibromatosis type 1 (NF1; OMIM 162200), and Legius syndrome (NFLS, OMIM 611431) are disorders clinically ... Noonan syndromeOcular manifestationMitogen-activated protein kinase (MAPK)Cataract. Background. Noonan syndrome (NS, OMIM ... Allanson JE: Noonan syndrome. Am J Med Genet C: Semin Med Genet. 2007, 145C: 274-279. 10.1002/ajmg.c.30138.View ArticleGoogle ...
  https://bmcophthalmol.biomedcentral.com/articles/10.1186/1471-2415-13-70
*  RASopathy - Wikipedia
... syndrome Hereditary gingival fibromatosis type 1 Neurofibromatosis type 1 Noonan syndrome Costello syndrome, Noonan-like Legius ... syndrome, Noonan-like Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan-like Schuhmacher AJ, ... Guerra C, Sauzeau V, Cañamero M, Bustelo XR, Barbacid M (June 2008). "A mouse model for Costello syndrome reveals an Ang II- ... Capillary malformation-AV malformation syndrome Autoimmune lymphoproliferative syndrome Cardiofaciocutaneous ...
  https://en.wikipedia.org/wiki/RASopathy
*  cardiofaciocutaneous syndrome [Lymphedema People]
These syndromes, known as rasopathies, include Noonan syndrome, Costello syndrome, neurofibromatosis-1, LEOPARD syndrome, ... NCFC subsumes neurofibromatosis type1, Legius syndrome, LEOPARD syndrome, Noonan syndrome, Costello syndrome and ... MAP2K1-Related Cardiofaciocutaneous Syndrome, MAP2K2-Related Cardiofaciocutaneous Syndrome, Noonan syndrome, Costello syndrome ... Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Apr 2011 Skeletal muscle pathology in Costello and ...
  http://lymphedemapeople.com/wiki/doku.php?id=cardiofaciocutaneous_syndrome
*  Childhood rhabdomyosarcoma - Wikipedia
... type one Neurofibromatosis, Beckwith-Wiedemann syndrome, Costello syndrome, and Noonan syndrome. Each contribute to ... Factors that increase the likelihood of this cancer include Li-Fraumeni syndrome, ...
  https://en.wikipedia.org/wiki/Childhood_rhabdomyosarcoma
*  Molecular basis of juvenile myelomonocytic leukemia | Haematologica
Analysis of genetic syndromes related to germline aberrations of the RAS pathway, like neurofibromatosis type I and Noonan ... Costello syndrome and Cardio-Facio-Cutaneous syndrome.8,9 ... Children with Noonan syndrome are at increased risk for ... of the Noonan syndrome cases. These mutations differ from the somatic mutations found in JMML.17 Noonan syndrome is ... However, in Noonan syndrome, JMML seems to behave differently from sporadic JMML as it occurs at a very young age (infancy) and ...
  http://www.haematologica.org/content/95/2/179
*  Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway - Bruce Korf
The Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach will be held ... These syndromes, including Noonan, Noonan with multiple lentigines, Costello, cardio-facio-cutaneous, and neurofibromatosis 1, ... Noonan Syndrome Support Group, and neurofibromatosis support groups. A group of developmental disorders is caused by ... This symposium will focus on recent molecular and clinical advances of Noonan, LEOPARD, Costello, and cardio-facio-cutaneous ...
  http://grantome.com/grant/NIH/R13-CA177217-01
*  Diagnosis of rhabdomyosarcoma - Canadian Cancer Society
neurofibromatosis type 1 (von Recklinghausen disease). * Beckwith-Wiedemann syndrome. * Costello syndrome. * Noonan syndrome ...
  http://www.cancer.ca/en/cancer-information/cancer-type/rhabdomyosarcoma/diagnosis/?region=sk
*  LEOPARD syndrome
... which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like ... Do you know this syndrome? Leopard syndrome. Author(s): Flávio Heleno da Silva Queiroz Cançado, Luis Candido Pinto da Silva, ... https://ghr.nlm.nih.gov/condition/costello-syndrome. https://ghr.nlm.nih.gov/condition/roberts-syndrome. https://ghr.nlm.nih. ... There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 ...
  http://www.diseaseinfosearch.org/LEOPARD+syndrome/4176
*  Rhabdomyosarcoma (RMS)
Costello syndrome and Noonan syndrome, both of which can cause deformities, developmental delays, and other problems ... Neurofibromatosis, a condition that causes tumors to grow on nerve tissue. *Beckwith-Wiedemann syndrome, a congenital (present ... Li-Fraumeni syndrome, a rare genetic disorder that makes a person likely to develop cancer at some point in his or her life ...
  http://kidshealth.org/ChildrensHealthNetwork/en/parents/rms.html
*  Participate in Local Research - Autism Society San Francisco Bay Area
Costello syndrome, cardio-facio-cutaneous syndrome, or Noonan syndrome. The affected person, both biological parents and a ... Eligible Participants: We are looking for families with someone affected by neurofibromatosis, ... About the Study: The goal of this study is to gain a better understanding of PTEN mutation syndromes to identify early markers ... Eligible Participants: Male children 36-66 months of age with ASD or fragile X syndrome. About the Study: The researchers aim ...
  https://www.sfautismsociety.org/participate-in-local-research.html
*  Neurofibromatosis type I - Wikipedia
... which include Costello Syndrome, Noonan Syndrome, and Cardiofaciocutaneous syndrome. The RASopathies also present with skeletal ... Neurofibromatosis type II List of Neurofibromatosis Charities "About Neurofibromatosis - The University of Chicago Medicine". ... GeneReviews/NCBI/NIH/UW entry on Neurofibromatosis 1 GeneReviews/NIH/NCBI/UW entry on Legius syndrome SPRED1 Sprouty-related, ... Living with Neurofibromatosis Type 1: A Guide for Adults. New York, NY: The National Neurofibromatosis Foundation, Inc. Print. ...
  https://en.wikipedia.org/wiki/Neurofibromatosis_type_I
*  Macrocephaly - Wikipedia
... syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin Syndrome, (also known as ... neurofibromatosis type 1, and tuberous sclerosis; overgrowth syndromes such as Sotos syndrome (cerebral gigantism), Weaver ... Basal Cell Nevus Syndrome) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies (brain white matter ... syndrome, Simpson-Golabi-Behmel syndrome (bulldog syndrome), and macrocephaly-capillary malformation (M-CMTC) ...
  https://en.wikipedia.org/wiki/Macrocephaly
*  Types of Cancer - LuciaGirl Pediatric Oncology Foundation (LGPOF)
Neurofibromatosis type 1 (NF1).. *Beckwith-Wiedemann syndrome.. *Costello syndrome.. *Noonan syndrome.. Signs and symptoms that ... Mycosis fungoides and the Sézary syndrome are types of NHL that start in white blood cells in the skin. Primary central nervous ...
  http://www.lgpof.org/typesofpediatriccancer/
*  Plus it
Noonan syndrome, Costello syndrome, Legius syndrome, cardio-facio-cutaneous syndrome, and LEOPARD syndrome, are now ... fragile X syndrome (FXS), Rett syndrome, neurofibromatosis, and tuberous sclerosis are major developmental syndromes leading to ... However, findings in mouse models of neurodevelopmental disorders, including fragile X, Rett syndrome, Down syndrome, and ... Neurofibromatosis type 1: the GAP from mice to treatment. The RAS signaling pathway has been shown to be important for ...
  http://www.jneurosci.org/content/32/41/14074
*  Costello syndrome - Wikipedia
... the mutations that cause Costello syndrome, Noonan syndrome and cardiofaciocutaneous syndromes are linked by their cellular ... which is planned as a treatment for neurofibromatosis type I. When this was reported in mainstream news, the Costello Syndrome ... Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many ... The test for the mutation in cancer tumors can also be used to test children for Costello syndrome. Costello syndrome is ...
  https://en.wikipedia.org/wiki/Costello_syndrome
*  Noonan syndrome - Wikipedia
Costello syndrome Legius syndrome Noonan Syndrome with Multiple Lentigines, as known as LEOPARD syndrome, a related disorder ... A condition known as "neurofibromatosis-Noonan syndrome" is associated with neurofibromin. NS can be confirmed genetically by ... Noonan's syndrome. (Male Turner syndrome, Turner-like syndrome)]". Med Pregl. 31 (7-8): 299-303. PMID 692497. "Noonan syndrome ... Noonan, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had ...
  https://en.wikipedia.org/wiki/Noonan_syndrome
*  Could a cancer drug potentially prevent learning disabilities in ... ( ANN ARBOR Mich. A drug originally d...)
Neurofibromatosis 1 or NF1 affects one in every 3000 children and ...,Could,a,cancer,drug,potentially,prevent,learning, ... they include Leopard syndrome, Noonan syndrome, Costello syndrome and Leguis syndrome all of which, like NF1, affect the brains ... Neurofibromatosis 1, or NF1, affects one in every 3,000 children, and causes benign tumors to grow throughout the body, large ... Collectively called neuro-cardio-facial-cutaneous (NCFC) syndromes or ''RASopathies", ...
  http://www.bio-medicine.org/medicine-news-1/Could-a-cancer-drug-potentially-prevent-learning-disabilities-in-some-kids-3F-93940-1/