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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.

*  Noonan syndrome - Overview: What is Noonan syndrome? | ThinkGenetic
Noonan syndrome is characterized by facial features, short stature, congenital heart defect, and developmental delay. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism (undescended testes), bleeding problems, and eye differences. Birth length is usually normal, but final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to 25% of individuals with Noonan syndrome have mild intellectual disability. Language impairments ...
  https://www.thinkgenetic.com/diseases/noonan-syndrome/overview/59277
*  Noonan syndrome with multiple lentigines - Wikipedia
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy. Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly common (1:1,000 to 1:2,500 live births), and neurofibromatosis 1 (which was once thought to be related to NSML) is also common (1:3500); however, no epidemiological data exists for NSML. An alternative name of the condition, LEOPARD ...
  https://en.wikipedia.org/wiki/Noonan_syndrome_with_multiple_lentigines
*  Physio And Health: Noonan syndrome
These patients were previously thought to have a form of Turner syndrome, with which Noonan syndrome shares numerous clinical features. The observation that patients with Noonan syndrome have normal karyotypes was important in allowing the distinction to be made between the Turner and Noonan syndromes ...
  https://physioandhealth.blogspot.com/2015/01/noonan-syndrome.html
*  Noonan-like/multiple giant cell lesion syndrome Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Noonan-like/multiple giant cell lesion syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
  http://www.rightdiagnosis.com/n/noonan_like_multiple_giant_cell_lesion_syndrome/intro.htm
*  Noonan Syndrome Symptoms | List of Signs of Noonan Syndrome
List of symptoms associated with Noonan syndrome, listed in alphabetical order with photos when available. This list can help identify the warning signs of Noonan s...
  https://www.ranker.com/list/noonan-syndrome-symptoms/reference
*  Noonan Syndrome - American Family Physician
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are ...
  http://www.aafp.org/afp/2014/0101/p37.html
*  Noonan Syndrome
Possible Anomalies. This page lists anomolies that are often noted in persons with Noonan Syndrome. This does not mean that all anomalies are seen in all persons with the disorder. Some people with Noonan Syndrome may have only a few of these anomalies and some may have many. There are also differences in terms of the severity of each of these anomalies. Definitions ...
  http://cf1.netmegs.com/noonan/nsanomolies.html
*  Noonan Syndrome
Puberty and fertilifty is often delayed in both boys and girls with Noonan Syndrome. The average age for girls with Noonan Syndrome to start menstruating is about 15 years old. This can cause some emotional concerns but it is not thought to have any physical complications. With boys, surgery at a young age can avoid fertility problems in later life where either one or both of their testes fail to descend ...
  https://www.specialeducationalneeds.co.uk/noonan-syndrome.html
*  Noonan's syndrome
Noonan syndrome is a genetic condition in which a mutated gene causes problems in production of a protein (parent speak!!). It is thought to be fairly common, though real-life experience suggests that many people with Noonan syndrome go undiagnosed, possibly because they have such mild symptoms. The Noonan Syndrome Support Group offers wonderful support…
  https://simpletangles.wordpress.com/noonans-syndrome/
*  PMNSR - Clinical: Postmortem Noonan and Related Panel
PMNSR : Noonan syndrome (NS) is an autosomal dominant disorder of variable expressivity whose characteristic features can include short stature, congenital heart defects, characteristic facial dysmorphology, unusual chest shape, developmental delay of varying degree, cryptorchidism, and coagulation defects, among other features. In approximately 20% to 30% of cases, Noonan syndrome and related disorders are associated with hypertrophic cardiomyopathy, which may lead to sudden cardiac death. Postmortem diagnosis of Noonan syndrome or a related disorder may assist in confirmation of the cause of death, as well as risk assessment in living family members. Other heart defects associated with Noonan syndrome and related disorders include pulmonary valve stenosis (20%-50%), atrial septal defects (6%-10%), ventricular septal defects (approximately 5%), and patent ductus arteriosus ...
  https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/65562
*  Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report - E-JURNAL
Abstract: Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with a worldwide prevalence of approximately 1:1,000 to 1:2,500. The syndrome is characterized by distinctive facial features, congenital heart defects (CHD), and short stature. Distinctive facial features consist of a broad and high forehead, hypertelorism, downslanting palpebral fissures, a high arched palate, low set and posteriorly rotated ears with a thick helix, and a short neck with excess nuchal skin and low posterior hairline. Additional relatively frequent features include chest deformities, cryptorchidism in males, mild intellectual disability, and bleeding diathesis.1,2 In 2001, missense mutations in the PTPN11 gene were reported in about 50% of NS cases. This gene encodes the tyrosine protein phosphatase nonreceptor SHP2, which is involved in ERK activation via RAS-MAPK pathway.3 Later, several other genes involved in the RAS-MAPK pathway were found to ...
  http://www.e-jurnal.com/2016/11/clinical-and-molecular-analysis-of.html
*  Signaling by gain-of-function SHP-2 mutants in Noonan syndrome - Bennett Anton
Noonan syndrome (NS) is an autosomal dominant disorder that occurs with a frequency of ~ 1:2,000 live births. Approximately 50% of NS patients contain a gain-of...
  http://grantome.com/grant/NIH/R01-GM099801-02
*  DMOZ - Health: Conditions and Diseases: Genetic Disorders: Noonan Syndrome
A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the Turner syndrome. Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities, characteristic facial features, and other abnormalities, and occasional hyperpyrexia may be associated. Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity.
  http://dmoztools.net/Health/Conditions_and_Diseases/Genetic_Disorders/Noonan_Syndrome/
*  NSRGP - Overview: Noonan Syndrome and Related Disorders Multi-Gene Panel, Blood
NSRGP : Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome (NS) or related disorders Establishing a diagnosis of a NS or related disorders, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved Identifying mutations within genes known to be associated with increased risk for disease features allowing for predictive testing of at-risk family members
  https://www.mayomedicallaboratories.com/test-catalog/Overview/63161
*  Pragmatic language impairment in children with Noonan syndrome
Noonan syndrome (NS) is a disorder causing symptoms like short stature, characteristic facial features, congenital heart disease, possible mental retardation, and pragmatic difficulties. This study describes the pragmatic skills in NS and discusses the linguistic profile of 17 informants aged 6-15 years, by comparing the participants' scores on the Children's Communication Checklist, 2nd edition (CCC-2) (Bishop, 2011), with a group of typically developing children of matching age and gender. Language impairments were common in the NS group. The results show that children and adolescents with NS do not have one coherent pragmatic profile. However, 76.5% of the participants displayed communication impairments, and pragmatic skills were significantly lower than in the control group ...
  http://bora.uib.no/handle/1956/16132
*  Everything Noonan Syndrome : NS Resources: 6 Books About Anxiety for Families with Special Needs
Tonight I came upon a good resource listing books about Anxiety for Families with Special Needs Children. Many children and adults with Noonan Syndrome have anxiety and I thought I would bookmark this article and links to books to help with the anxiety ...
  http://noonansyndrome.blogspot.com/2015/10/ns-resources-6-books-about-anxiety-for.html
*  Everything Noonan Syndrome : October 2015
Tonight I came upon a good resource listing books about Anxiety for Families with Special Needs Children. Many children and adults with Noonan Syndrome have anxiety and I thought I would bookmark this article and links to books to help with the anxiety ...
  http://noonansyndrome.blogspot.com/2015_10_01_archive.html
*  Noonan Syndrome Thrombocytopenia
Tips to help with your thrombocytopenia: Noonan Syndrome Thrombocytopenia. My thrombocytopenia, Online resources for thrombocytopenia.
  http://mythrombocytopenia.net/noonan-syndrome-thrombocytopenia/
*  Heart Valve Development | Circulation Research
In humans, mutations in several genes impinging on the Ras/mitogen-activated protein kinase pathway, including protein tyrosine phosphatase nonreceptor type 11 (PTPN11), which encodes the protein tyrosine phosphatase SHP2, cause Noonan syndrome.82 Noonan syndrome is associated with multiple congenital defects including cardiac abnormalities in tissues derived from AVC and OFT endocardial cushions.83 SHP2 promotes Ras/mitogen-activated protein kinase activation and also acts downstream of EGF and other growth factor receptors.83,84 Mice bearing activating SHP2 mutations in Tie-2 expressing cells have increased extracellular signal-regulated kinase (ERK)1/2 activation and increased proliferation of AVC and OFT endocardial cushion/valve primordia endothelial and mesenchymal cells.84 This phenotype is rescued by genetic deletion of ERK1. It is hoped that further studies of mouse models such as these will lead to better understanding of, and ...
  http://circres.ahajournals.org/content/105/5/408.full
*  Chromosome is where the heart is | ACP Internist
ACP Internist's puzzle feature challenges readers to seek answers to clues placed horizontally in rows to reveal an answer written vertically.
  http://acpinternist.org/archives/2013/09/puzzle.htm
*  Meddygfa Victoria Surgery - Library - Health A-Z
If you have a child with Noonan syndrome and neither you or your partner have been diagnosed with the condition yourselves, you may be able to have a genetic blood test to see if either of you carry one of the faulty genes associated with the condition. If one of you does carry a faulty gene or has been diagnosed with Noonan syndrome, there's a 50% risk of each further child you have being born with the condition. In this case, it may be possible during pregnancy to test for the condition in a baby before he or she is born. Read more about diagnosing Noonan syndrome.. If neither of you carry one of the faulty genes, the risk of having another child with the condition is very small (estimated to be less than 1%).. ...
  http://www.meddygfavictoriasurgery.co.uk/Library/Conditions/Articles/noonan-syndrome/causes
*  Noonan's syndrome
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
  https://pharos.nih.gov/idg/diseases/IDG:D8218
*  Noonan Info
Jacqueline Noonan, M.D., Professor of Pediatrics: 'Noonan syndrome: A Clinical Description Emphasising the Cardiac Findings'. The first description of a patient with 'Noonan Syndrome' was made by Koblinsky in 1883, although it was not until 1962 that the condition began to be named after Dr Jacqueline Noonan.. Dr Noonan is a pediatric cardiologist and pediatrician, who qualified in Boston in 1956. When she subsequently began work at the University of Iowa as their first pediatric cardiologist, she became interested in why some children had congenital heart disease and other abnormalities that may occur with it. She studied 833 patients at the congenital heart disease clinic, looking for other congenital abnormalities, and in 1962 presented a paper: 'Associated non-cardiac malformations in children with congenital heart disease'. This described 9 children who in addition to congenital heart ...
  http://cf1.netmegs.com/noonan/noonaninfo.html
*  Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease | IRIS Uniroma1
Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome ( NS) and the clinically related LEOPARD syndrome ( LS), whereas somatic mutations in the same gene contribute to leukemogenesis. On the basis of our previously gathered genetic and biochemical data, we proposed a model that splits NS- and leukemia-associated PTPN11 mutations into two major classes of activating lesions with differential perturbing effects on development and hematopoiesis. To test this model, we investigated further the diversity of germline and somatic PTPN11 mutations, delineated the association of those mutations with disease, characterized biochemically a panel of mutant SHP-2 proteins recurring in NS, LS, and leukemia, and performed molecular dynamics simulations to determine the structural effects of selected mutations. Our results document a strict correlation between the identity of the lesion and disease and demonstrate that ...
  https://iris.uniroma1.it/handle/11573/34948
*  MEDLINE - Results of the search |page 1|
BACKGROUND: Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES). METHODS: TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. Sanger sequencing was used to confirm the suspected pathological variants in the patients and their family members. RESULTS: TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. All ...
  http://bases.bireme.br/cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&base=MEDLINE&lang=i&nextAction=lnk&isisFrom=1&count=10&exprSearch=noonan%20and%20syndrome

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)


  • congenital
  • Noonan syndrome is characterized by facial features, short stature, congenital heart defect, and developmental delay. (thinkgenetic.com)
  • Play media The diagnosis of pulmonary valve stenosis can be achieved via echocardiogram, as well as a variety of other means among them are: ultrasound, in which images of the heart chambers in utero where the tricuspid valve has thickening (or due to Fallot's tetralogy, Noonan's syndrome, and other congenital defects) and in infancy auscultation of the heart can reveal identification of a murmur. (wikipedia.org)
  • 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)
  • In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals with RASopathies correctly. (diva-portal.org)
  • MAPK
  • Several hormones act through receptors that stimulate the RAS/MAPK pathway, and therefore, Noonan syndrome and related disorders represent a remarkable opportunity to study the implication of the RAS/MAPK pathway in different endocrine systems, including the GH/IGF-1 system. (springer.com)
  • Abnormalities
  • Additional dermatologic abnormalities (axillary freckling, localized hypopigmentation, interdigital webbing, hyperelastic skin) Mild mental retardation is observed in about 30% of those affected with the syndrome Nystagmus (involuntary eye movements), seizures, or hyposmia (reduced ability to smell) has been documented in a few patients In 2004, a patient was reported with recurrent upper extremity aneurysms that required surgical repairs. (wikipedia.org)
  • 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)