Genetic complications noonan syndrome. Medical search. Frequent questions

Noonan syndrome with multiple lentigines (NSML) is a rare inherited disorder. (medlineplus.gov)
Noonan syndrome with multiple lentigines was formerly known as LEOPARD syndrome. (medlineplus.gov)
Multiple lentigines on the face of a child with LEOPARD syndrome. (medscape.com)
LEOPARD syndrome, also known as Noonan syndrome with multiple lentigines, is a rare autosomal dominant disorder most often caused by missense mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP2. (medscape.com)
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation. (medscape.com)
Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). (biomedcentral.com)
Consistent with their distinctive consequences on SHP2 function and signal transduction, these mutations do not cause NS but underlie Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome (MIM PS151100), a disorder similar but distinct from NS. (biomedcentral.com)

A number of genetic mutations can result in Noonan syndrome. (wikipedia.org)
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. (cdc.gov)
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. (cdc.gov)
The term RASopathies includes disorders with mutations in the genes that code for the proteins of the RAS/MAPK pathway, such as neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome. (medscape.com)
[ 4 ] Molecular studies have proven that LEOPARD syndrome and Noonan syndrome are allelic disorders caused by different missense mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at band 12q24.1. (medscape.com)
In 2005, Ogata and Yoshida documented that PTPN11 mutations can be identified in approximately 40% of Noonan syndrome patients and in greater than 80% of LEOPARD syndrome patients. (medscape.com)
In 2006, Hanna et al found that Noonan syndrome mutations enhance SHP-2 catalytic activity, whereas the activity of representative LS mutants is undetectable when assayed using a standard PTP substrate. (medscape.com)
[ 11 ] They revealed that whereas Noonan syndrome is caused by gain-of-function PTPN11 mutations, LEOPARD syndrome mutants are catalytically defective and act as dominant negative mutations that interfere with growth factor/Erk-mitogen-activated protein kinase-mediated signaling. (medscape.com)
In 2006, Tartaglia et al reported that germline mutations in the PTPN11 gene cause LEOPARD and Noonan syndromes, whereas somatic mutations in the same gene contribute to leukemogenesis. (medscape.com)
Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
Ogata T, Yoshida R. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. (medscape.com)
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. (medscape.com)
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. (medscape.com)
The etiology of HCM is extremely heterogeneous, including malformation syndromes, inborn errors of metabolism, neuromuscular disorders, and in the majority of the cases mutations in cardiac sarcomere protein genes [ 5 ]. (biomedcentral.com)
Background Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). (bmj.com)
A syndrome that is rarely observed the world over, the Costello syndrome is caused by mutations of the HRAS gene. (healthhearty.com)
Costello syndrome is caused by changes (mutations) in the HRAS gene. (diseasesdic.com)
Some somatic mutations in the HRAS gene predispose individuals with Costello syndrome to an increased risk of neoplasms, with a 15% lifetime risk of developing malignant tumors. (diseasesdic.com)
Mutations in the HRAS gene cause Costello syndrome. (diseasesdic.com)
Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). (diseasesdic.com)
It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division. (diseasesdic.com)
These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. (diseasesdic.com)
Our data supports a strong genetic basis for CDD and show that CDD is not only genetically heterogeneous but also non-monogenic, requiring mutations in more than one genes for the disease to develop. (biomedcentral.com)
Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. (biomedcentral.com)

Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (wikipedia.org)
Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. (nih.gov)
For the purposes of this article, HCM is a primary cardiac disorder that results from known or suspected genetic defects in sarcomeric proteins of the cardiac myocyte. (medscape.com)
LEOPARD syndrome is a complex dysmorphogenetic disorder of variable penetrance and expressivity. (medscape.com)
Myhre syndrome (MS) is a rare autosomal-dominant disorder characterized by short stature, intellectual disability, skeletal anomalies, restricted joint mobility, distinctive facial dysmorphism, and deafness. (e-apem.org)
Klinefelter syndrome is the most common sex chromosome disorder and occurs in about 1 in every 500 live male births. (msdmanuals.com)
Basically a genetic disorder, the Costello syndrome leads to the delayed development of body systems in children. (healthhearty.com)
HGH is used in genetic disorder treatment for Prader-Willi syndrome and Noonan syndrome. (myelin.org)
Down syndrome, also known as trisomy 21, is the most common genetic disorder causing intellectual disability and the most frequently occurring human chromosomal syndrome. (medicalhomeportal.org)
Klinefelter syndrome is the most common sex chromosome disorder. (msdmanuals.com)
Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. (biomedcentral.com)
Yet the scarcity of pedigrees segregating the disorder and the rarity of the disease make identification of genetic risk loci by traditional study designs difficult. (biomedcentral.com)
William's Syndrome was first recognized as a unique disorder in 1961. (physio-pedia.com)
Later, A.J. Beuren described eleven new patients with the characteristics described by Williams and the disorder became known as Williams-Beuren Syndrome. (physio-pedia.com)
The video displays children with William's Syndrome and the common facial characteristics distinct to the genetic disorder. (physio-pedia.com)
The above two pictures are from the following souce: Kaplan P, Wang P, Francke U. Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. (physio-pedia.com)
الصفحة xvi - The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis . (symptoma.com)
Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (merckmanuals.com)
Miscarriages may occur because of a problem in the fetus (such as a genetic disorder or birth defect) or in the woman (such. (merckmanuals.com)
She specializes in the care of women at high risk for having a baby with a birth defect or genetic disorder. (ucsf.edu)

Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (wikipedia.org)
Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)

Other musculoskeletal manifestations in Noonan syndrome are associated with undifferentiated connective-tissue disorders which can be associated with joint contractures (tightness) or joint hypermobility (looseness). (wikipedia.org)
Not only is pectus excavatum associated with other genetic disorders, such as Marfan syndrome and Noonan syndrome, but it is also seen in the family members of more than 40% of cases. (healthnews.com)
She had a healthy brother, and there was no family history of short stature, mental retardation, or genetic disorders. (e-apem.org)
The case describes complications of NS, a genetic disease that causes multiple malformations, short stature and heart disease, with less frequent digestive disorders, PMDN and cryptorchidism, except when the BRAF gene is altered. (sbni2023.com.br)
Conversely, the persistent congenital hyperinsulinism is due to a focal or diffuse overproduction of insulin originated by the pancreas in relation to various genetic disorders [ 6 ]. (biomedcentral.com)
I continue to work on a variety of infectious diseases and immune disorders (e.g., inflammatory bowel disease, AIDS, Kaposi sarcoma, tuberculosis, filariasis, congenital/hereditary lymphatic system syndromes, opportunistic infections/neoplasms) and direct an internationally recognized Lymphedema-Angiodysplasia clinic. (arizona.edu)
Although differential diagnosis between these two syndromes could be difficult, particularly in the first age of life, we underline the relevance in discriminating these two disorders in terms of affected signaling pathway to allow an effective targeted pharmacological treatment. (biomedcentral.com)
In this manuscript, the authors described the mutation spectrum causally linked to Noonan syndrome (NS) (MIM PS163950) and clinically related disorders, and the associated clinical outcome, based on a pediatric cohort of 47 affected subjects. (biomedcentral.com)
Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). (bmj.com)
3 Additional rare autosomal dominant or recessive disorders, such as Smith-Lemli-Opitz syndrome, Timothy syndrome and CHARGE syndrome have been described as associated with autism in clinical reports. (bmj.com)
The treatment options available for this syndrome, today, focus on the various disorders and symptoms related to the syndrome. (healthhearty.com)
Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress (e.g., illness, surgery, fasting) or may experience a more insidious onset with the development of multiorgan complications including vomiting, protein intolerance, failure to thrive, hypotonia, developmental delays or regression, movement disorders, or cardiomyopathy. (beds.ac.uk)
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. (beds.ac.uk)
It ranks third place among child development disorders in front of congenital malformations and Down's syndrome 21 . (bvsalud.org)

[9] Approximately 40-50% of fetuses diagnosed with AVCD have Down syndrome, and a further 15-20% are associated with other chromosomal abnormalities and syndromes, such as DiGeorge syndrome . (wikipedia.org)
It can be idiopathic or may be associated with various chromosomal anomalies including Trisomy 21, Turner syndrome, Noonan syndrome, and other genetic abnormalities [1]. (unisciencepub.com)
Down syndrome refers to the phenotype or the pattern of physical traits, while trisomy 21 represents the genotype, i.e., the underlying chromosomal basis of the condition. (medicalhomeportal.org)
Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. (herts.ac.uk)
Telomere Dysfunction, Chromosomal Instability and Cancer -- Genetic Instability and Disease Prognostication -- Causes of Chromosomal Instability -- Patterns of Chromosomal Aberrations in Solid Tumors -- Yeast as Models of Mitotic Fidelity -- The Diverse Effects of Complex Chromosome Rearrangements and Chromothripsis in Cancer Development. (nshealth.ca)

This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes . (wikipedia.org)
Dawn syndrome Trisomy 21 means there's an extra copy of chromosome 21 in every cell. (unisciencepub.com)
[ Bull: 2022 ] A smaller percentage of individuals with Down syndrome have trisomy 21 mosaicism from postzygotic nondisjunction during mitosis of the fertilized egg or from postzygotic loss of a chromosome 21 from a trisomic zygote. (medicalhomeportal.org)
There are no two identical cases of congenital heart disease, and there are specific genetic syndromes with a higher probability of having a defect, such as trisomy 21. (arrhythmia.center)
Trisomy 21 causes about 95% of the cases of Down syndrome. (merckmanuals.com)

Abnormalities in the limbs and extremities may occur in Noonan syndrome. (wikipedia.org)
Moynahan first documented the association of the syndrome with cardiac abnormalities and short stature in 1962. (medscape.com)
Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
No further inpatient care is needed except as indicated for complications of associated abnormalities. (medscape.com)
Complications may arise due to associated abnormalities. (medscape.com)
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. (medscape.com)
GHD in adults is recognized as a distinct clinical syndrome that encompasses reduced psychological well-being and specific metabolic abnormalities. (medscape.com)
Olivieri LJ, Baba RY, Arai AE, Bandettini WP, Rosing DR, Bakalov V, Sachdev V, Bondy CA. Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in Turner syndrome. (ctsicn.org)
By early adulthood, patients with CNC may have life-threatening complications as a consequence of cardiac myxomas and/or endocrine abnormalities. (logicalimages.com)
Chorionic Villus Sampling Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic. (merckmanuals.com)

Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (wikipedia.org)
The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome . (medlineplus.gov)
The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome. (medlineplus.gov)
Some people with the signs and symptoms of cardiofaciocutaneous syndrome do not have an identified variant in the BRAF , MAP2K1 , MAP2K2 , or KRAS gene. (medlineplus.gov)
Kim J, Kim MR, Kim HJ, Lee KA, Lee MG. LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. (medscape.com)
There is a chance that the symptoms of patients suffering from this syndrome might be confused with that of the Noonan and/or Cardiofaciocutaneous syndrome. (healthhearty.com)
Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. (diseasesdic.com)
There is no cure for Down syndrome, but some specific symptoms and problems caused by the syndrome can be treated. (merckmanuals.com)

LEOPARD syndrome may be caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene. (medscape.com)
Reported in 2005, Kalidas et al performed mutation screening and linkage analysis of PTPN11 in 3 families, each of which had a history of LEOPARD syndrome for 3 generations. (medscape.com)
No variations in sequence were observed in the other 2 families, and negative lod scores excluded linkage to the PTPN11 locus, showing that LEOPARD syndrome is genetically heterogeneous. (medscape.com)
Writzl et al reported a family with molecularly proven (p.Thr468Met in PTPN11) LEOPARD syndrome in a father and his adult son. (medscape.com)
Leopard syndrome caused by heterozygous missense mutation of Tyr 279 Cys in the PTPN11 gene in a sporadic case of Chinese Han. (medscape.com)
Ucar C, Calyskan U, Martini S, Heinritz W. Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). (medscape.com)

LEOPARD syndrome: clinical diagnosis in the first year of life. (medscape.com)
With my combined research training in genomics and clinical training in pediatric cardiology I endeavor to close this gap with investigation into the genetic basis of congenital heart malformations and developing new models of disease. (stanford.edu)
However, the clinical characteristics and genetic etiology underlying TGA remain largely unexplored. (stanford.edu)
Objective: We sought to systematically examine the clinical characteristics and genetic etiology for isolated nonsyndromic TGA. (stanford.edu)
The clinical syndromes of which woolly hair is a feature have been confused by many authors. (symptoma.com)
Asthma is a clinical syndrome characterized by episodic reversible airway obstruction, increased bronchial reactivity, and airway inflammation. (medscape.com)
While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. (nih.gov)

The most well established of these, including fragile X syndrome, tuberous sclerosis, Rett syndrome, and PTEN mutation account for up to 5% of ASDs. (bmj.com)
The Costello syndrome is caused by the mutation of the HRAS gene. (healthhearty.com)
Two genetic loci are associated with CNC, the most common locus corresponding to an inactivating mutation in the protein kinase A type I-alpha regulatory subunit ( PRKAR1A ) gene on chromosome 17q22-24. (logicalimages.com)

Patients with MS can develop various long-term and life-threatening complications [ 4 ]. (e-apem.org)
The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. (nih.gov)

Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome. (medlineplus.gov)
In these cases, affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by variants in genes involved in RAS/MAPK signaling. (medlineplus.gov)
In rare instances, rhabdomyosarcoma has been linked to genetic syndromes that are passed from parents to children, including neurofibromatosis 1, Noonan syndrome, Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome and Costello syndrome. (ahdubai.com)
The children who suffer from Costello syndrome, are susceptible to the development of different types of tumors, that may be both cancerous as well as noncancerous. (healthhearty.com)
Costello Syndrome is a rare condition that affects many different parts of the body. (diseasesdic.com)
Beginning in early childhood, people with Costello Syndrome additionally have an increased risk to develop certain cancerous and noncancerous tumors. (diseasesdic.com)
Costello syndrome is a complex, multisystem condition, and it can lead to various complications. (diseasesdic.com)

In a number of syndromes, such as Cornelia de Lange, milder phenotypic expression is associated with less severe intellectual disability. (herts.ac.uk)
Head-banging is often associated with dental pain or upper respiratory tract infections causing sinusitis or otitis (Clarke, 2002) or gastrointestinal reflux, as commonly occurs in Cornelia de Lange syndrome. (herts.ac.uk)

2001). In spite of the prevalence of autistic-like behaviours in many syndromes, autism is typically associated with a few conditions only, notably tuberous sclerosis. (herts.ac.uk)
Among the causes of aut ism, there are associations with genetic and congenital conditions such as: lactic acidosis, oculocutaneous albinism, change in purines, hearing impairments, progressive muscular dystrophy, tuberous sclerosis and phenylketonuria. (bvsalud.org)

and the fact that CDD types I or V can be associated with familial adenomatous polyposis [ 7 ] and autosomal recessive or dominant polycystic kidney disease (PKD) respectively [ 8 ], are strong indicators of a genetic contribution to CDD. (biomedcentral.com)
CNC demonstrates an autosomal dominant inheritance pattern with high penetrance and genetic heterogeneity. (logicalimages.com)

2021). For a general phenotypic description and discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (nih.gov)

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. (cdc.gov)
My translational interests and contributions have spanned blood/lymphatic vascular endothelial cell biology and pathobiology in vitro and in vivo, hepatosplanchnic lymphatic/microcirculatory physiology, small animal models, in vivo lymphatic imaging, thoracic duct lymph drainage, lymphogenous cancer spread, and genomics/proteomics of lymphedema-angiodysplasia syndromes in man and experimental models, including defects, deficiency, and overexpression of human and murine lymphangio- gene-sis genes and their syndromic/phenotypic manifestations. (arizona.edu)
Complication due to prolong drain of chylothorax lead to impaired of lymphatic drainage and leads to infection. (unisciencepub.com)
It is believed that developmental defects and the resulting dysfunction of the lymphatic system are the cause of primary lymphedema, as well as associated syndromes, and can be genetically determined [ 5 ]. (biomedcentral.com)

It has also been associated with systemic conditions and syndromes, which include Marfan syndrome, Stickler syndrome, Noonan syndrome, and Down syndrome. (optometryadvisor.com)

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. (cdc.gov)
Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant. (cdc.gov)
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. (medscape.com)
Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)

HCM is an additional common complication of NSML. (biomedcentral.com)
Background Neurocognitive impairment is a common complication of congenital heart disease (CHD) as well as acquired cardiovascular disease. (stanford.edu)

The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (wikipedia.org)
Author and journalist Olivia Gordon, has written a moving book about her son's diagnosis with Noonan Syndrome, and it's now published in the United States. (rasopathiesnet.org)
C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. (biomedcentral.com)
Securing a molecular diagnosis in this case allowed the cessation of immunosuppression, thus reducing the burden of unnecessary and potentially harmful treatment, and allowing genetic counselling. (biomedcentral.com)
We discuss the therapeutic implications of establishing a genetic diagnosis in this case and provide an overview of genetic mimics of scleroderma. (biomedcentral.com)
[1] Diagnosis of the syndrome can be made at birth based on physical characteristics, but a true medical diagnosis is confirmed following a diagnostic test called fluorescence in situ hybridization (FISH). (physio-pedia.com)

[ 14 ] To date, 2 patients with LEOPARD syndrome and myelomonocytic or acute lymphoblastic leukemias have been reported. (medscape.com)
Importantly, however, not all patients with LEOPARD syndrome demonstrate linkage to 12q24.1. (medscape.com)
All patients with the LEOPARD syndrome should undergo periodic cardiac assessment with echocardiography and electrocardiographic examination because the heart conduction impairment tends to occur gradually but progressively. (medscape.com)
Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. (medscape.com)
Begic F, Tahirovic H, Kardaševic M, Kalev I, Muru K. Leopard syndrome: a report of five cases from one family in two generations. (medscape.com)
Laux D, Kratz C, Sauerbrey A. Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome. (medscape.com)
LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. (medscape.com)
LEOPARD syndrome: what are café noir spots? (medscape.com)

It associate with syndrome like Down syndrome, Noonan syndrome, turner. (unisciencepub.com)
FDA indications in children include GH deficiency (GHD), Turner syndrome, idiopathic short stature, small for gestational age with failure to attain normal growth percentiles, Prader-Willi syndrome (PWS), chronic renal insufficiency, Noonan syndrome, and short stature due to short stature homeobox gene haploinsufficiency. (ajmc.com)
2 Other relatively rare conditions that also affect growth in children are Turner syndrome (TS), small for gestational age (SGA) (with failure to attain the lower portion of the normal growth curve by age 2), Prader-Willi syndrome (PWS), chronic renal insufficiency (CRI), Noonan syndrome, and short stature due to short stature homeobox (SHOX) gene haploinsufficiency ( Table 1 ). (ajmc.com)
Turner Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ctsicn.org)
This graph shows the total number of publications written about "Turner Syndrome" by people in this website by year, and whether "Turner Syndrome" was a major or minor topic of these publications. (ctsicn.org)
Below are the most recent publications written about "Turner Syndrome" by people in Profiles. (ctsicn.org)
Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). (ctsicn.org)
for example, females with fragile-X syndrome have milder phenotypic expression and less severe intellectual disability. (herts.ac.uk)

Etiology may be genetic or environmental. (lookformedical.com)
It presents multifactorial etiology: of organic biologic or genetic basis and environmental factors 19, 24 . (bvsalud.org)

Heart defects occur in most people with cardiofaciocutaneous syndrome. (medlineplus.gov)
Pulmonary stenosis can occur as a complication of other heart conditions, such as tetralogy of Fallot, or in conjunction with certain genetic syndromes that affect the heart, like Williams syndrome , Alagille syndrome , and Noonan syndrome. (childrenshospital.org)
Neurological delayed milestone in those babies with Down syndrome, there is several complication can occur in association with development of congenital chylothorax, these include pulmonary hypoplasia, malnutrition, hypernatre¬mia and fluid imbalance. (unisciencepub.com)
Other congenital anomalies (e.g., heart and gastrointestinal defects) and acquired conditions (e.g., hypothyroidism, hearing impairment, and celiac disease) occur more frequently in children with Down syndrome. (medicalhomeportal.org)

Late complications include hematomas, thrombophlebitis, arteriovenous fistulas, or severe acute illness or other precipitating illness is the fluid to l/day. (elastizell.com)

Klinefelter syndrome occurs when a boy has one extra X chromosome. (msdmanuals.com)
Translocation in this type of Down syndrome, children have only an extra part of chromosome 21. (unisciencepub.com)
A small percentage (3-4%) of Down syndrome results from an unbalanced translocation between chromosome 21 and another chromosome (usually 13, 14, or 15). (medicalhomeportal.org)
Down syndrome is caused by an extra chromosome 21. (merckmanuals.com)
About 3% of people with Down syndrome have 46 chromosomes, but the extra chromosome 21 is incorrectly joined with another chromosome (called translocation), creating an abnormal, but not extra, chromosome. (merckmanuals.com)

The European Medicines Agency (EMA) has also approved rhGH for all the above indications except idiopathic short stature (ISS) and Noonan syndrome. (medscape.com)

Cardiovascular (heart) and pulmonary (lungs) complications can result from the narrowed chest cavity. (healthnews.com)
[ 10 ] The increased rates of cardiovascular morbidity and mortality reinforce the close association between the syndromes. (medscape.com)
The above series of 3 pictures A, B, C was from the following journal article: Pober B, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. (physio-pedia.com)

Congenital dilatation of the bile ducts (choledochal cyst/CDD) result in bile retention, with cholangitis, pancreatitis and malignancies as associated complications. (biomedcentral.com)

Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. (medlineplus.gov)
Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). (medlineplus.gov)
Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. (medlineplus.gov)
Variants in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. (medlineplus.gov)

Prognosis is determined mainly by cardiac complications. (medscape.com)

A Brief video on Bruce Gelb and his interest in RASopathies research, particularly Noonan syndrome. (rasopathiesnet.org)

Although the underlying origin of these behaviours can sometimes be linked to a biological mechanism, such as a deficiency in the enzyme hypoxanthineguanine phosphoribosyl transferase (HPRT) in Lesch-Nyhan syndrome, in most conditions the pathway from gene to behaviour is less clear. (herts.ac.uk)
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. (beds.ac.uk)

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. (cdc.gov)
Sometimes peripheral pulmonary stenosis is a complication of a heart defect or genetic syndrome. (childrenshospital.org)

While Down's syndrome is the most common cause of intellectual disability, fragile-X syndrome is the most common inherited cause of learning disability (see Sabaratnam, 2003). (herts.ac.uk)

Her research interests include the use of new genetic technologies for fetal testing, and she is a national expert in the use of cell free DNA testing. (ucsf.edu)

We report the first Korean case of genetically-confirmed Myhre syndrome in Korea. (e-apem.org)

Cutaneous and skeletal manifestations of the 13 year old patient with Myhre syndrome we describe in this report. (biomedcentral.com)
Cutaneous manifestations thus can be used for early detection of the disease and may prevent its most dangerous complications. (logicalimages.com)

The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (wikipedia.org)
It is used for the treatment of Turner's syndrome in women that prevents the development of sexual characteristics. (myelin.org)
In 1971, Dr. Jack Costello, a pediatrician in New Zealand, identified two non-related individuals as having a cluster of characteristics that might be a new syndrome. (diseasesdic.com)
After publishing his findings in 1977, no further research was published on this possible syndrome until Der Kaloustian, Moroz, McIntosh, Watters, and Blainchan (1991) reported another individual with similar characteristics. (diseasesdic.com)
[1] J.C.P. Williams observed in four patients an association between supravalvular aortic stenosis and the common physical and mental characteristics of this patient population and stated that it "may constitute a previously unrecognized syndrome" [1] . (physio-pedia.com)

Gastrointestinal problem more common in Down syn¬drome like imperforated anus, duodenal atresia, Meckel diver¬ticulum and celiac disease, constipation, so these complication will found in neonatal period or after childhood. (unisciencepub.com)
She was born at term with no neonatal complications. (biomedcentral.com)

Noonan Syndrome: Common Molecular Alterations and the Consequences. (cdc.gov)
Molecular-genetic mechanisms of the disease are still poorly understood. (biomedcentral.com)
In the current work, we used well-known methods (ToppGene and Endeavour), as well as methods previously developed by us, to prioritize genes involved in endothelial apoptosis and to find potential participants of molecular-genetic mechanisms of lymphedema among them. (biomedcentral.com)
We highlight this case to provide an overview of these genetic mimics of scleroderma, and highlight the molecular pathways that can lead to pathological fibrosis. (biomedcentral.com)
My goal is translate an improved molecular genetic and developmental understanding of congenital heart disease from the laboratory into clinically actionable models, diagnostics, and ultimately therapeutic interventions. (stanford.edu)

[3] [10] The remaining 30-40% of cases are not linked to a syndrome, with AVCD observed without other major defects. (wikipedia.org)
People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. (medicalhomeportal.org)

Complications of NS can include leukemia. (wikipedia.org)
Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure. (beds.ac.uk)

[3] The pattern seen in those patients with Noonan syndrome differ from those patients who have Down syndrome in that "partial" AVCD is more prevalent in those with NS, whereas those with down syndrome show a prevalence of the "complete" form of AVCD. (wikipedia.org)
The prevalence of Down syndrome varies by age (due to the combined impact of increasing life span and selective terminations decreasing birth prevalence) and country (because of dramatic differences in availability of prenatal testing and termination and population attitudes). (medicalhomeportal.org)
The graph (left) is based on the National Down Syndrome Cytogenetic Register and shows pooled prevalence (per 10,000 live births) of Down syndrome by maternal age. (medicalhomeportal.org)
[ Mai: 2013 ] Prevalence would have been higher but for Down syndrome-related elective pregnancy terminations. (medicalhomeportal.org)
The estimated birth prevalence of Down syndrome among live births in the United States in 2010 was 1:826. (medicalhomeportal.org)

Type V is considered as a distinct entity as, unlike the other types, is usually associated with both cystic renal disease and liver fibrosis (Caroli syndrome). (biomedcentral.com)

Journal of the Association of Genetic Technologists 2020 3 46 (1): 21-23. (cdc.gov)

The condition was named after American pediatric cardiologist Jacqueline Noonan, who described her first case in 1963. (wikipedia.org)
[2] The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963. (handwiki.org)
Both genetic and environmental factors may contribute to pediatric myopia. (optometryadvisor.com)
Achievement of final adult height consistent with a child's genetic potential remains the primary therapeutic endpoint for recombinanat human growth hormone (rhGH) therapy in the pediatric population. (medscape.com)

Treatment of short bowel syndrome that prevents absorption of nutrients in the body. (myelin.org)

Most children with Down syndrome survive to adulthood. (merckmanuals.com)

The final adult height of individuals with Noonan syndrome is about 161-167 cm in males and 150-155 cm in females, which approaches the lower limit of normal. (wikipedia.org)

Genetic counseling is recommended for people with a family history of NSLM who want to have children. (medlineplus.gov)
Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels. (cdc.gov)
[8] 45% of children with Down syndrome have congenital heart disease. (wikipedia.org)
A tumor of nerve cells, that is found in children as a result of the syndrome, is known as neuroblastoma. (healthhearty.com)
A cancer of the bladder, called transitional cell carcinoma, also develops in children due to this syndrome. (healthhearty.com)
The number of children suffering from the syndrome is very less. (healthhearty.com)
The probability of having a baby with Down syndrome increases as the mother's age increases, but due to higher pregnancy rates in younger women, most children with Down syndrome are born to women under 35 years of age. (medicalhomeportal.org)
Children with Down syndrome have delayed physical and mental development, specific head and facial features, and are often short. (merckmanuals.com)

Anatomy1

Diseases24

Chemicals and Drugs5

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Phenomena and Processes4

Multiple lentigines7

Mutations24

Disorder20

Features of Noonan syndrome3

Disorders14

Chromosomal5

Trisomy 215

Abnormalities10

Symptoms8

PTPN116

Clinical7

Mutation3

Life-threatening c2

Costello Syndrome7

Cornelia de La2

Tuberous sclerosis2

Autosomal2

Heterogeneity1

Lymphatic4

Marfan1

Phenotype4

Common complication2

Diagnosis6

Leopard-syndrome8

Turner7

Phenotypic2

Etiology2

Occur4

Severe1

Chromosome5

Idiopathic1

Cardiovascular3

Malignancies1

Cardiofaciocutaneous syndrome4

Cardiac1

RASopathies1

Deficiency2

Pulmonary2

Down's1

Fetal1

Genetically1

Manifestations2

Characteristics5

Neonatal2

Molecular5

Defects2

Include2

Prevalence5

Distinct1

20201

Pediatric4

Short bowel sy1

Adulthood1

Final adult height1

Children8