Cause 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)
The study included all the patients aged 5-21 years who had been diagnosed with NS or of one of three Noonan-like syndromes (i.e., cardio-facio-cutaneous syndrome, Noonan syndrome with multiple lentigines, and Noonan-like syndrome with loose anagen hair) at a university pediatric hospital. (nih.gov)
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)
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)

The inheritance rate is low, although when part of Noonan syndrome it is autosomal dominant. (medscape.com)
The inheritance pattern of pulmonic valvular stenosis is poorly understood, although these syndromes display an autosomal dominant pattern. (medscape.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)
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)

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)

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)
Taken together, our findings demonstrate that mutations in MAP2K1, which are frequently associated with neurological complications and intellectual disability, can be associated with a milder clinical and neurocognitive profile more typical of individuals with Noonan syndrome. (umn.edu)

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)
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)
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)
Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. (diseasesdic.com)

The Noonan-like phenotype had a higher frequency of epilepsy than typical NS. (nih.gov)
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. (cdc.gov)
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)
Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. (umn.edu)

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 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)
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)
Basal hyperpigmentation, proliferation of melanocytes in neurofibromatosis type 1 and LEOPARD syndrome, but no proliferation of melanocytes in sporadic café-au-lait macules. (dermacompass.net)
While decreased bone mineralization has been documented in other RASopathies, such as neurofibromatosis type 1 and Noonan syndrome, systematic studies investigating bone mineral density (BMD) are lacking in CS. (unicatt.it)

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. (cdc.gov)
[ 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)
[ 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)
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)

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

Abnormalities in the limbs and extremities may occur in Noonan syndrome. (wikipedia.org)
In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms.Conclusions:These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan's syndrome. (medscimonit.com)
Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan's syndrome. (medscimonit.com)
Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
Moynahan first documented the association of the syndrome with cardiac abnormalities and short stature in 1962. (medscape.com)
[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)

Supravalvular lesions may occur in the setting of TOF, Williams syndrome, and Alagille syndrome, as well as in Noonan syndrome. (medscape.com)
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)

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)
Indications for Genotropin include growth hormone deficiency in children, Turner syndrome, chronic kidney disease, Prader-Willi syndrome, and short stature associated with Noonan syndrome. (teky.com.co)
Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)

The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome . (medlineplus.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)
Patients with Costello syndrome are prone to develop both benign and malignant tumours. (atlasgeneticsoncology.org)
Apart from mental retardation, the prognosis of patients with Costello syndrome depends mainly on the occurrence of cardiac and\/or tumoral complications. (atlasgeneticsoncology.org)
Screening for cancer in children with Costello syndrome. (atlasgeneticsoncology.org)
Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review. (atlasgeneticsoncology.org)
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. (atlasgeneticsoncology.org)
Costello syndrome: two cases with embryonal rhabdomyosarcoma. (atlasgeneticsoncology.org)
Costello syndrome: a cancer predisposing syndrome? (atlasgeneticsoncology.org)
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma. (atlasgeneticsoncology.org)
Costello syndrome: report and review. (atlasgeneticsoncology.org)
A syndrome that is rarely observed the world over, the Costello syndrome is caused by mutations of the HRAS gene. (healthhearty.com)
Basically a genetic disorder, the Costello syndrome leads to the delayed development of body systems in children. (healthhearty.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 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)
Costello syndrome is a complex, multisystem condition, and it can lead to various complications. (diseasesdic.com)
Costello syndrome (CS) is a multisystemic disorder characterized by postnatal reduced growth, facial dysmorphism, cardiac defects, cognitive impairment, skin and musculo-skeletal anomalies, and predisposition to certain cancers. (unicatt.it)

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)
Noonan syndrome (NS) and related disorders encompass a phenotypically heterogeneous group of conditions due to mutations in the Ras/Mitogen-activated protein kinase pathway. (nih.gov)
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)
Pediatric Growth Disorders: Genotropin may also be used to treat children with certain growth disorders, such as Turner syndrome, Prader-Willi syndrome, or chronic renal insufficiency. (teky.com.co)
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)
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)
The treatment options available for this syndrome, today, focus on the various disorders and symptoms related to the syndrome. (healthhearty.com)
It ranks third place among child development disorders in front of congenital malformations and Down's syndrome 21 . (bvsalud.org)

Noonan syndrome-14 (NS14) is a recessive developmental disorder within the RASopathy clinical spectrum. (nih.gov)
METHODS: Pragmatic, observational study in 10 Italian and Spanish NICUs, including preterm babies (250 and 336 weeks divided into 3 GA intervals) with clinical signs of respiratory distress syndrome and stabilized on CPAP. (bvsalud.org)
Asthma is a clinical syndrome characterized by episodic reversible airway obstruction, increased bronchial reactivity, and airway inflammation. (medscape.com)

Heart defects occur in most people with cardiofaciocutaneous syndrome. (medlineplus.gov)
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)
Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
Variants in any of these genes can result in the characteristic features of cardiofaciocutaneous 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)
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)

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

While pulmonic valvular stenosis is primarily a congenital malformation, it may also occur as part of congenital rubella syndrome. (medscape.com)
6] Many of these congenital valvular malformations occur in the setting of well-defined syndromes. (medscape.com)
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)

Background:Noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. (medscimonit.com)

3, 4, 5] Eisenmenger syndrome associated with trisomy 13 also results in RVOTO in conjunction with other cardiac malformations. (medscape.com)
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)

Eu Gabrielle Miranda Magalhães Pinto, autor responsável pela submissão do manuscrito intitulado ''Case report on the neurological complications associated with Noonan Syndrome'' e todos os coautores que aqui se apresentam, declaramos que não possuímos conflitos de interesse de nenhuma ordem. (sbni2023.com.br)

Rhabdomyosarcoma, the connective tissue cancer, is seen among patients afflicted by this syndrome. (healthhearty.com)

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. (cdc.gov)
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)
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)

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)

A large study called the Second Natural History Study of Congenital Heart Defects analyzed the treatment, quality of life, echocardiography findings, complications, exercise responses, and predisposition to endocarditis with regards to cardiac valvular disease, and pulmonary stenosis was found to be the most benign valvular lesion. (medscape.com)

We report a case of Noonan syndrome with giant coronary aneurysms.Case Report:A young woman with the phenotypic characteristics of Noonan's syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. (medscimonit.com)
Sometimes peripheral pulmonary stenosis is a complication of a heart defect or genetic syndrome. (childrenshospital.org)
Cardiovascular (heart) and pulmonary (lungs) complications can result from the narrowed chest cavity. (healthnews.com)

These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. (diseasesdic.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)

The risk of hypertension is increased three -fold in patients with Turner syndrome . (englishlib.org)
It associate with syndrome like Down syndrome, Noonan syndrome, turner. (unisciencepub.com)

PVS has been seen in the setting of well-defined congenital syndromes, most notably Holt-Oram syndrome, Noonan syndrome, and Leopard syndrome. (medscape.com)
Examples of such syndromes involving stenosis of the pulmonic valves are Holt-Oram syndrome, Noonan syndrome, and Leopard syndrome. (medscape.com)
Often times, the valvular abnormality is associated with syndromes such as Noonan syndrome and Leopard syndrome. (medscape.com)
LEOPARD syndrome is a complex dysmorphogenetic disorder of variable penetrance and expressivity. (medscape.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)

Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels. (cdc.gov)
Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome. (ucdenver.edu)
Children with woolly hair must be examined completely and monitored regularly to rule out cardiofaciocutaneous and Noonan syndrome. (ijpediatrics.com)
[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)
Frequency of QTc Interval Prolongation in Children and Adults with Williams Syndrome. (yalemedicine.org)
Translocation in this type of Down syndrome, children have only an extra part of chromosome 21. (unisciencepub.com)

She was diagnosed with a single ventricle heart, heterotaxy syndrome, Noonan's Syndrome and has survived multiple heart surgeries and a long list of complications over her little life. (theohhf.org)

In Korsakoff's syndrome there is dramatic memory impairment with relative preservation of other cognitive functions. (englishlib.org)
Prader-Willi Syndrome with Severe Obesity or Respiratory Impairment: Genotropin is not recommended for individuals with Prader-Willi syndrome who have severe obesity or respiratory problems. (teky.com.co)

Along with the delayed development, mental retardation, development of loose folds of skin, and unusual flexibility in the joints of the limbs, are characteristic to the syndrome. (healthhearty.com)

Rarely, pulmonic stenosis is associated with recessively transmitted conditions such as Laurence-Moon-Biedl syndrome. (medscape.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)

Given the variety of complications that NS causes to patients, this syndrome should undergo further analysis by the scientific community, since there are few studies about it. (sbni2023.com.br)
This is why patients experiencing symptomatic facet syndrome can feel pain in their shoulders , legs and even manifested in the form of headaches . (englishlib.org)
Short Bowel Syndrome: Genotropin may be used to enhance intestinal absorption and promote weight gain in patients with short bowel syndrome. (teky.com.co)
Acute Critical Illness: Patients who are critically ill due to complications following open-heart surgery, abdominal surgery, multiple accidental trauma, or acute respiratory failure should not receive Genotropin. (teky.com.co)
[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)
Patients with MS can develop various long-term and life-threatening complications [ 4 ]. (e-apem.org)

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

The development of the ears and auditory system may be affected in people with Noonan's syndrome. (wikipedia.org)
The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan's syndrome. (medscimonit.com)

FAS is a syndrome that falls under a larger group of conditions known as Fetal Alcohol Spectrum Disorder (FASD). (aao.org)
Hereditary brain disorder , transient ischemia or paraneoplastic syndrome . (englishlib.org)
Conrad is in the late stages of a very rare disorder known as Burchardt's Syndrome. (englishlib.org)
Klinefelter syndrome is the most common sex chromosome disorder and occurs in about 1 in every 500 live male births. (msdmanuals.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)

Complications of NS can include leukemia. (wikipedia.org)
Late complications include hematomas, thrombophlebitis, arteriovenous fistulas, or severe acute illness or other precipitating illness is the fluid to l/day. (elastizell.com)
Infections and conditions associated with wasting include tuberculosis , chronic diarrhea , AIDS, and superior mesenteric artery syndrome . (englishlib.org)
These include active malignancy (cancer), closed epiphyses (growth plates), acute critical illness due to complications after surgery, multiple trauma, or respiratory failure, and hypersensitivity to any component of Genotropin. (teky.com.co)

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)

Complication of down syndrome its varies according to types, the most complication is congenial heart disease atioventric¬ular septal defect, ventricular septal defect, Mitral valve pro¬lapse, tetralogy of fallot. (unisciencepub.com)

Anatomy1

Diseases19

Chemicals and Drugs5

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes4

Multiple lentigines7

Autosomal dominant4

Features of Noonan syndrome3

Individuals with Noonan syndrome2

Mutation6

Phenotype5

Neurofibromatosis5

PTPN117

RASopathies1

Abnormalities7

Alagille2

Short stature3

Costello Syndrome24

Disorders9

Clinical3

Cardiofaciocutaneous syndrome9

Marfan1

Symptoms1

Occur3

Hypertrophic1

Trisomy3

Neurological1

Rhabdomyosarcoma1

Lymphatic4

Diagnosis3

Predisposition1

Pulmonary3

Genes1

Neonatal2

Turner2

Leopard-syndrome6

Children9

Heterotaxy1

Impairment2

Mental Retardation1

Pulmonic1

Malformations1

Patients6

20211

Noonan's2

Disorder5

Include4

Pediatric2

Septal defect1