Noonan Syndrome: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.LEOPARD Syndrome: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.Protein Tyrosine Phosphatase, Non-Receptor Type 11: A subtype of non-receptor protein tyrosine phosphatases that contain two SRC HOMOLOGY DOMAINS. Mutations in the gene for protein tyrosine phosphatase, non-receptor type 11 are associated with NOONAN SYNDROME.SOS1 Protein: A mammalian homolog of the DROSOPHILA SON OF SEVENLESS PROTEIN. It is a guanine nucleotide exchange factor for RAS PROTEINS.Syndrome: A characteristic symptom complex.Costello Syndrome: Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).Facies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Loose Anagen Hair Syndrome: Benign childhood alopecia that improves spontaneously with aging. It is characterized by anagen hairs (misshapen hair bulbs and absent inner and outer root sheaths), thin, and sparse hairs that pulls out easily.Pulmonary Valve Stenosis: The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.Eyebrows: Curved rows of HAIR located on the upper edges of the eye sockets.Abnormalities, MultipleFailure to Thrive: A condition of substandard growth or diminished capacity to maintain normal function.Protein Tyrosine Phosphatases: An enzyme group that specifically dephosphorylates phosphotyrosyl residues in selected proteins. Together with PROTEIN-TYROSINE KINASE, it regulates tyrosine phosphorylation and dephosphorylation in cellular signal transduction and may play a role in cell growth control and carcinogenesis.Cherubism: A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination.Skin Abnormalities: Congenital structural abnormalities of the skin.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Ectodermal Dysplasia: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.Sexual Development: The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.Bezoars: Concretions of swallowed hair, fruit or vegetable fibers, or similar substances found in the alimentary canal.Genes, Neurofibromatosis 1: Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Leukemia, Myelomonocytic, Juvenile: A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Diagnostic Techniques, Endocrine: Methods and procedures for the diagnosis of diseases or dysfunction of the endocrine glands or demonstration of their physiological processes.ras Proteins: Small, monomeric GTP-binding proteins encoded by ras genes (GENES, RAS). The protooncogene-derived protein, PROTO-ONCOGENE PROTEIN P21(RAS), plays a role in normal cellular growth, differentiation and development. The oncogene-derived protein (ONCOGENE PROTEIN P21(RAS)) can play a role in aberrant cellular regulation during neoplastic cell transformation (CELL TRANSFORMATION, NEOPLASTIC). This enzyme was formerly listed as EC 3.6.1.47.Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).Cardiomyopathy, Hypertrophic: A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).Intracellular Signaling Peptides and Proteins: Proteins and peptides that are involved in SIGNAL TRANSDUCTION within the cell. Included here are peptides and proteins that regulate the activity of TRANSCRIPTION FACTORS and cellular processes in response to signals from CELL SURFACE RECEPTORS. Intracellular signaling peptide and proteins may be part of an enzymatic signaling cascade or act through binding to and modifying the action of other signaling factors.

*  DMOZ - Health: Conditions and Diseases: Genetic Disorders: Noonan Syndrome
Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity. ... Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities ... many characteristics of which overlap those of the Turner syndrome. ... A cardiofacial syndrome with a variable phenotype, which may change with age, ...
  http://dmoztools.net/Health/Conditions_and_Diseases/Genetic_Disorders/Noonan_Syndrome/
*  Noonan's syndrome
The Noonan Syndrome Support Group offers wonderful support… ... experience suggests that many people with Noonan syndrome go ... Noonan syndrome is a genetic condition in which a mutated gene causes problems in production of a protein (parent speak!!). It ... The Noonan Syndrome Support Group offers wonderful support and aids research into the syndrome. It is backed by Dr Noonan ... Noonan syndrome is a genetic condition in which a mutated gene causes problems in production of a protein (parent speak!!). It ...
  https://simpletangles.wordpress.com/noonans-syndrome/
*  Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report - E-JURNAL
Noonan syndrome-like disorder with loose anagen hair/ NSLH and Noonan syndrome-like disorder with or without juvenile ... Keywords: Noonan syndrome, Turner syndrome, PTPN11 gene, molecular analysis. Author: Iffa Mutmainah, Willy Nillesen, Farmaditya ... Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report Ilmu Kesehatan Jp Kedokteran gg 2016 Edit ... Abstract: Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with a worldwide prevalence of ...
  http://www.e-jurnal.com/2016/11/clinical-and-molecular-analysis-of.html
*  Noonan Syndrome Symptoms | List of Signs of Noonan Syndrome
This list can help identify the warning signs of Noonan s... ... List of symptoms associated with Noonan syndrome, listed in ... If you are wondering "Do I have Noonan syndrome?" this list may help you get a ballpark idea of whether or not you might have ... This list can help identify the warning signs of Noonan syndrome, but if you're concerned for your health you should visit your ... Many of the symptoms of Noonan syndrome may be related to other illnesses or conditions, so if you're experiencing any of these ...
  https://www.ranker.com/list/noonan-syndrome-symptoms/reference
*  Noonan Syndrome Thrombocytopenia
... My thrombocytopenia, Online resources for thrombocytopenia. ... Noonan Syndrome Thrombocytopenia. The 1996 Diagnostic and Statistics. Analysts project that by year 2030 Hispanic students will ... But for most of us "look" for higher paying sites the wrong way noonan syndrome thrombocytopenia more things. Magnetic therapy ... Doing so can noonan syndrome thrombocytopenia actually store bio energy. Yellow is often linked with growth and hope. Green is ...
  http://mythrombocytopenia.net/noonan-syndrome-thrombocytopenia/
*  The PTPN11 gene and its putative association with human ageing
Mutations in PTPN11 cause Noonan syndrome, which is often characterized by growth impairment and a disturbance of GH1 secretion ...
  http://genomics.senescence.info/genes/entry.php?id=19
*  HGH Blog | All posts tagged 'Building-Growth-Hormone'
Noonan syndrome, Turner syndrome, Prader-Willi syndrome, chronic renal insufficiency, short stature homeobox-containing gene ( ...
  http://www.hgh.com/blogger/?tag=/Building-Growth-Hormone
*  HGH Blog | All posts tagged 'Dekka-Mass-Gainers'
Noonan syndrome, Turner syndrome, Prader-Willi syndrome, chronic renal insufficiency, short stature homeobox-containing gene ( ...
  http://www.hgh.com/blogger/?tag=/Dekka-Mass-Gainers
*  SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton | Development
The Noonan syndrome-associated mutation SHP-2N308D leads to abnormal heart development in Xenopus. Noonan syndrome missense ... the endogenous role for SHP-2 in heart development and its function in Noonan syndrome, AML, ALL, JMML and LEOPARD syndrome ... Noonan J. A.. (1968). Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. Am. J. Dis ... 1994). Noonan syndrome. An update and review for the primary pediatrician. Clin. Pediatr. 33, 548-555. ...
  http://dev.biologists.org/content/139/5/948
*  Chromosome is where the heart is | ACP Internist
Noonan syndrome used to be called Turner-like syndrome. Noonan syndrome is an autosomal dominant condition linked to defects in ... Answer: Noonan syndrome. (Table 2) Noonan syndrome is a disease that can be passed down through families (inherited). It causes ... Find in the vertical columns: Eponymous syndrome characterized by short stature, webbed neck, hypertelorism, chest deformities ...
  http://acpinternist.org/archives/2013/09/puzzle.htm
*  Noonan syndrome - Diagnosis and treatment - Mayo Clinic
Noonan syndrome is a genetic disorder that may cause unusual facial features, short stature, heart defects, eye conditions and ... Noonan syndrome. The Lancet. 2013;381:333.. *National Library of Medicine. Noonan syndrome. Genetics Home Reference. https:// ... ghr.nlm.nih.gov/condition/noonan-syndrome. Accessed June 26, 2016.. *Romano AA, et al. Noonan syndrome: Clinical features, ... Noonan syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/gard/10955/noonan-syndrome/ ...
  https://www.mayoclinic.org/diseases-conditions/noonan-syndrome/diagnosis-treatment/drc-20354428
*  Search of: 'noonan syndrome' - List Results - ClinicalTrials.gov
Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome. *Noonan Syndrome ... Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome. *Noonan Syndrome ... Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome. * ... Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome). *Genetic Disorder ...
  https://clinicaltrials.gov/ct2/results?cond=%22noonan+syndrome%22&show_rss=Y&sel_rss=new14
*  Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome
... Surasak Puvabanditsin,1 Rosanna Abellar,2 Adaora Madubuko,1 ... "Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome," Case Reports in Pathology, vol. 2018, Article ID 6829586, 4 ...
  https://www.hindawi.com/journals/cripa/2018/6829586/cta/
*  Noonan Syndrome - Public munhcenter
Most children born with Noonan syndrome have some kind of cardiac defect. Short stature - adult individuals with Noonan ... Owing to eating and swallowing difficulties, some children with Noonan syndrome need to eat often, and require a special diet. ... syndrome are generally about 15 cm shorter than predicted height. Growth hormone production deficit. Late onset puberty is ...
  http://www.mun-h-center.se/en/research-and-facts/rare-diseases/noonan-syndrome/
*  Learning About Noonan Syndrome - National Human Genome Research Institute (NHGRI)
Additional Resources on Noonan Syndrome. What is Noonan Syndrome?. Noonan syndrome is a disorder that involves unusual facial ... Noonan Syndrome [ncbi.nlm.nih.gov]. From NCBI Bookshelf. *Noonan Syndrome [omim.org]. From OMIM: Online Mendelian Inheritance ... Noonan syndrome [ghr.nlm.nih.gov]. From The Genetics Home Reference. *Noonan Syndrome Foundation [teamnoonan.org]. Committed to ... Noonan syndrome [nlm.nih.gov]. From Medline Plus Medical Encyclopedia. *Noonan Syndrome [emedicine.medscape.com]. From ...
  https://www.genome.gov/25521674/
*  Does Noonan Syndrome Increase Malignant Hyperthermia Susceptibility? - MHAUS
Topic Does Noonan Syndrome Increase Malignant Hyperthermia Susceptibility Robert Shaw (medical student), Ari Weintraub, MD, ... Background: Noonan syndrome is often described as a "Male Turner syndrome" presenting with pterygium colli, short stature, ... Since the physical characteristics of Noonan syndrome are similar to King-Denborough syndrome (known to be at increased risk of ... Articles that delineated between Noonan syndrome and King-Denborough syndrome were also reviewed. ...
  https://www.mhaus.org/healthcare-professionals/mhaus-recommendations/does-noonan-syndrome-increase-malignant-hyperthermia-susceptibility/
*  Abstract 16401: Defining the Cardiovascular Genotype-Phenotype Correlations in Noonan Syndrome. | Circulation
... database of patients with Noonan syndrome was combined with the medical records of all clinically-defined Noonan syndrome ... Noonan syndrome gene mutations in PTPN11, RAF1, SOS1, SHOC2, KRAS and/or BRAF were screened for in 74.5% of the cohort. ... Abstract 16401: Defining the Cardiovascular Genotype-Phenotype Correlations in Noonan Syndrome.. Terence W Prendiville, ... Results: A total of 294 patients were identified with Noonan syndrome. Cardiac lesions noted included pulmonary stenosis (56.8 ...
  http://circ.ahajournals.org/content/122/Suppl_21/A16401
*  Life-Threatening Obstructive Sleep Apnea Caused by Adenoid Hypertrophy in an Infant with Noonan Syndrome
... Sonia Khirani,1,2 ... "Life-Threatening Obstructive Sleep Apnea Caused by Adenoid Hypertrophy in an Infant with Noonan Syndrome," Case Reports in ...
  https://www.hindawi.com/journals/cripe/2012/514514/cta/
*  Noonan syndrome - Wikipedia
Noonan's syndrome. (Male Turner syndrome, Turner-like syndrome)]". Med Pregl. 31 (7-8): 299-303. PMID 692497. "Noonan syndrome ... Costello syndrome Legius syndrome Noonan Syndrome with Multiple Lentigines, as known as LEOPARD syndrome, a related disorder ... Noonan, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had ... It is referred to as the male version of Turner's syndrome; however, the genetic causes of Noonan syndrome and Turner syndrome ...
  https://en.wikipedia.org/wiki/Noonan_syndrome
*  Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome - Full Text View - ClinicalTrials.gov
Noonan Syndrome. Syndrome. Genetic Diseases, Inborn. Disease. Pathologic Processes. Craniofacial Abnormalities. Musculoskeletal ... Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome. The safety and scientific validity of ... The aim of this trial is to evaluate the effect of somatropin (Norditropin®) on final height in children with Noonan syndrome ... Osio D, Dahlgren J, Wikland KA, Westphal O. Improved final height with long-term growth hormone treatment in Noonan syndrome. ...
  https://clinicaltrials.gov/ct2/show/NCT01529840?cond=%22Noonan+syndrome+1%22&rank=2
*  Noonan syndrome with multiple lentigines - Wikipedia
Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly ... LEOPARD Syndrome at eMedicine "LEOPARD Syndrome". NORD - National Organization for Rare Disorders. "Noonan syndrome with ... Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal ... 1 April 2000). "Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma". J Postgrad Med. 46 (2): 98-100. ...
  https://en.wikipedia.org/wiki/Noonan_syndrome_with_multiple_lentigines
*  Mutation in NRAS in familial Noonan syndrome : case report and review of the literature
NRAS, Noonan syndrome, Mutation, RAS-MAPK pathway, RASopathies National Category Medical Genetics Identifiers. URN: urn:nbn:se: ... Mutation in NRAS in familial Noonan syndrome: case report and review of the literature. Ekvall, Sara Uppsala University, ... Background: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including ... Case presentation: Here, we present a clinical and molecular characterization of a small family with Noonan syndrome. ...
  http://uu.diva-portal.org/smash/record.jsf?pid=diva2%3A866658&c=8&searchType=SIMPLE&language=en&query=&af=%5B%5D&aq=%5B%5B%7B%22journalId%22%3A%221416%22%7D%5D%5D&aq2=%5B%5B%5D%5D&aqe=%5B%5D&noOfRows=50&sortOrder=author_sort_asc&sortOrder2=title_sort_asc&onlyFullText=false&sf=all
*  Noonan Syndrome. About a genetic disorder, symptoms, causes,impact,bibliography - WriteWork
It is equallypresent in both males and females(Gandy p.1). Noonan Syndrome a... ... Noonan Syndrome is agenetic disorder that causes abnormal development of multiple parts of the body. ... Noonan SyndromeFormerly know in the medical world as Turner-like Syndrome, ... Formerly know in the medical world as Turner-like Syndrome, Noonan Syndrome is a ...
  http://www.writework.com/essay/noonan-syndrome-genetic-disorder-symptoms-causes-impact-bi
*  Noonan Syndrome
Some people with Noonan Syndrome may have only a few of these anomalies and some may have many. There are also differences in ... The Noonan Syndrome Support Group, Inc. and any associated parties will not be held responsible for any actions readers take ... This page lists anomolies that are often noted in persons with Noonan Syndrome. This does not mean that all anomalies are seen ... SYNDROME- a set of symptoms that characterize a certain disease or condition ...
  http://cf1.netmegs.com/noonan/nsanomolies.html

Daniel NoonanNeuro-cardio-facial-cutaneous syndromes: Neuro-cardio-facial-cutaneous-syndromes (NCFC), (also referred to as neuro-craniofacial-cardiac syndromes) is a group of developmental disorders with a genetic ground, affecting the nervous system, circulatory system, (cranio)facial and cutaneous development. These four parts are the common denominator for the syndromes, but are mostly accompanied by disturbances in other parts of the body.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Helene CostelloFacies (medical): In medical contexts, a facies is a distinctive facial expression or appearance associated with specific medical conditions.Loose anagen syndrome: Loose anagen syndrome (also known as "Loose anagen hair syndrome") is primarily described in fair-haired children who have easily dislodgable hair.Freedberg, et al.Stenosis of pulmonary arteryEyebrow: The eyebrow is an area of thick, delicate hairs above the eye that follows the shape of the lower margin of the brow ridges of some mammals. Their main function is hypothesized to prevent sweat, water, and other debris from falling down into the eye socket, but they are also important to human communication and facial expression.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..YopH, N-terminal: In molecular biology, YopH, N-terminal refers to an evolutionary conserved protein domain. This entry represents the N-terminal domain of YopH protein tyrosine phosphatase (PTP).CherubismFrontonasal dysplasia: Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis, frontonasal malformation or Tessier cleft number 0/14) is a congenital malformation of the midface.Lenyoun EH, Lampert JA, Xipoleas GD, Taub PJ (2011) Salvage of calvarial bone graft using acellular dermal matrix in nasal reconstruction and secondary rhinoplasty for frontonasal dysplasia.Aplasia cutis congenita: (ILDS Q84.810)BezoarCongenital heart defectGermline STAT 1 Mutation: Interferons induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). A natural heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial but not viral disease was found in two unrelated patients with unexplained mycobacterial disease.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Raf-like Ras-binding domain: B:56-131, B:56-131, :56-131 :56-131 A:366-374, A:19-91Neurofibromatosis type 4: Neurofibromatosis type 4 (also known as "Neurofibromatosis variant type") resembles von Recklinghausen's disease, but also presents with cutaneous neurofibromas.James, William; Berger, Timothy; Elston, Dirk (2005).Myocardial disarray: Myocardial disarray, also known as myocyte disarray, is a term to describe the loss of the normal parallel alignment of myocytes (the muscle cells of the heart). Instead, the myocytes usually form circles around foci of connective tissue.Hippo signaling pathway: The Hippo signaling pathway, also known as the Salvador/Warts/Hippo (SWH) pathway, controls organ size in animals through the regulation of cell proliferation and apoptosis. The pathway takes its name from one of its key signaling components—the protein kinase Hippo (Hpo).

(1/181) Feeding difficulties and foregut dysmotility in Noonan's syndrome.

PURPOSE: Noonan's syndrome is a common dysmorphic syndrome in which failure to thrive and gastrointestinal symptoms are frequent but poorly understood. DESIGN: Twenty five children with Noonan's syndrome were investigated by contrast radiology, pH monitoring, surface electrogastrography (EGG), and antroduodenal manometry (ADM). RESULTS: Sixteen had poor feeding and symptoms of gastrointestinal dysfunction. All 16 required tube feeding. Seven of 25 had symptoms of foregut dysmotility and gastro-oesophageal reflux. In the most symptomatic children (four of seven) EGG showed fasting frequency gradient loss along the stomach fundus and pylorus with antral postprandial frequency loss. ADM showed shortened fasting cycle length, with abnormal phase III and shortened postprandial activity containing phasic contractions. IMPLICATIONS: Gastroduodenal motor activity was reminiscent of 32-35 week preterm patterns. The feeding difficulties appear to resolve as gut motility matures. In Noonan's syndrome, feeding problems appear to be the result of delayed gastrointestinal motor development.  (+info)

(2/181) Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male.

A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis with SHOX and SRY gene probes was carried out. One copy of both SHOX and SRY was detected in interphase nuclei, clarifying the origin of LWD and the male phenotype. Molecular results suggested that the 45,X karyotype arose through two independent events. The first occurred at paternal meiosis leading to an unequal crossing over between the short arms of the X and Y chromosomes. As a consequence, the SRY gene was translocated onto Xp, thereby explaining the male phenotype of the patient. The second event probably occurred at maternal meiosis or at the early stages of the zygote resulting in the loss of the maternal X chromosome.  (+info)

(3/181) A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment.

OBJECTIVES: The study analyzed factors, including treatment, affecting disease-related death in patients with hypertrophic cardiomyopathy (HCM) presenting in childhood. BACKGROUND: Previous smaller studies suggest that mortality is higher in patients with HCM presenting in childhood compared with presentation in adulthood, but these studies have all originated from selected patient populations in tertiary referral centers, and reported no significant protection by treatment. METHODS: Retrospective comparisons of mortality were done in total cohort of patients presenting to three regional centers of pediatric cardiology. There were 66 patients (25 with Noonan's syndrome) with HCM presenting at age <19 years; mean follow-up was 12.0 years. RESULTS: Among risk factors for death were congestive heart failure (p = 0.008), large electrocardiogram voltages (Sokolow-Lyon index p = 0.0003), and degree of septal (p = 0.004) and left ventricular (p = 0.028) hypertrophy expressed as percent of 95th centile value. The only treatment that significantly reduced the risk of death on multifactorial analysis of variance was high-dose beta-adrenoceptor antagonist therapy (propranolol 5 to 23 mg/kg/day or equivalent; p = 0.0001). Nineteen out of 40 patients managed conventionally (no treatment, 0.8 to 4 mg/kg of propranolol, or verapamil) died, median survival 15.8 years, with no deaths among 26 patients on high-dose beta-blockers (p = 0.0004); survival proportions at 10 years were 0.65 (95% confidence interval 0.49-0.80) and 1.0, respectively (p = 0.0015). Survival time analysis shows better survival in the high-dose beta-blocker group compared with the "no specific therapy" group (p = 0.0009) and with the conventional-dose beta-blocker group (p = 0.002). Hazard ratio analysis suggests that high-dose beta-blocker therapy produces a 5-10-fold reduction in the risk of disease-related death. CONCLUSIONS: High-dose beta-blocker therapy improves survival in childhood HCM.  (+info)

(4/181) Noonan syndrome: a clinical and genetic study of 31 patients.

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.  (+info)

(5/181) Bilateral coronary artery dilatation in a child with Noonan syndrome.

A rare case of a child with Noonan syndrome who had huge bilateral coronary artery dilatation is presented. Noonan syndrome is one of the most common nonchromosomal syndromes seen in children with cardiovascular abnormalities. Coronary artery abnormality should be considered in Noonan syndrome, because this syndrome may be associated with a higher incidence of coronary anomalies than previously thought.  (+info)

(6/181) Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.  (+info)

(7/181) Cardiac findings in 31 patients with Noonan's syndrome.

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and Doppler echocardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.  (+info)

(8/181) Biventricular hypertrophic cardiomyopathy with right ventricular outflow tract obstruction associated with Noonan syndrome in an adult.

This report describes an adult patient with Noonan syndrome accompanied by biventricular hypertrophic cardiomyopathy causing isolated right ventricular outflow tract obstruction. Biventricular hypertrophic cardiomyopathy causing right- and/or left-side outflow tract obstruction, as well as valvular pulmonary stenosis, is relatively common in infants with Noonan syndrome. However, this condition without a dysplastic pulmonary valve, or indeed any polyvalvular dysplasia, is rare in adults with Noonan syndrome. Treatment with a beta-adrenergic receptor blocking agent improved the patient's symptoms. Because neither the etiologic and prognostic relationship nor the genetic linkage between hypertrophic cardiomyopathy associated with Noonan syndrome and non-syndromic hypertrophic cardiomyopathy is clearly defined, clinicopathological findings and further follow-up may provide important evidence for the pathogenesis of hypertrophic cardiomyopathy.  (+info)



  • LEOPARD
  • An alternative name of the condition, LEOPARD syndrome, is a mnemonic, originally coined in 1969, as the condition is characterized by some of the following seven conditions, the first letters of which spell LEOPARD, along with the characteristic "freckling" of the skin, caused by the lentigines that is reminiscent of the large cat. (wikipedia.org)
  • disorder
  • Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. (genome.gov)
  • The cause of Noonan syndrome in the remaining 10 to 15 percent of people with this disorder is not yet known. (genome.gov)
  • lymphatic
  • A lethal version of this condition is known as Cowchock Wapner Kurtz syndrome that, in addition to cystic hygroma, includes cleft palate and lymphedema, a condition of localized edema and tissue swelling caused by a compromised lymphatic system. (wikipedia.org)
  • infancy
  • The name JMML now encompasses all diagnoses formerly referred to as juvenile chronic myeloid leukemia (JCML), chronic myelomonocytic leukemia of infancy, and infantile monosomy 7 syndrome. (wikipedia.org)
  • phenotypic
  • King-Denborough syndrome presents with a very similar phenotypic appearance and has a known link to MH susceptibility. (mhaus.org)
  • medical
  • Only a medical profession can properly diagnose you, so don't hesitate to consult your doctor if you fear you may have Noonan syndrome. (ranker.com)
  • Speak to a genetic counselor or a medical geneticist to learn more about Noonan syndrome. (thinkgenetic.com)
  • Dr. Noonan moved on to the fledgling University of Kentucky medical school in 1961, where she served for over forty years. (wikipedia.org)
  • Aside from the rare distinction of having a medical condition named after her, Noonan has received numerous other honors, including the 1971 Helen B. Frazer Award, the 1985 Harpers Bazaar's Best Women Doctors in America, and later The Best Doctors in America award. (wikipedia.org)