AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
Noonan SyndromeLEOPARD SyndromeProtein Tyrosine Phosphatase, Non-Receptor Type 11SOS1 ProteinSyndromeCostello SyndromeFaciesLoose Anagen Hair SyndromePulmonary Valve StenosisEyebrowsAbnormalities, MultipleFailure to ThriveProtein Tyrosine PhosphatasesCherubismSkin AbnormalitiesCraniofacial AbnormalitiesEctodermal DysplasiaSexual DevelopmentBezoarsHeart Defects, CongenitalGenes, Neurofibromatosis 1Leukemia, Myelomonocytic, JuvenileGerm-Line MutationMutationDiagnostic Techniques, Endocrineras ProteinsNeurofibromatosis 1Cardiomyopathy, HypertrophicIntracellular Signaling Peptides and ProteinsEncyclopedias as TopicGrowth DisordersBody HeightDwarfismMedlinePlusTurner SyndromeAge Determination by Skeleton
SkeletalChromosomeAbnormalitiesMalformation syndromeSigns and symptomsPediatricTurnerSymptomsMalformationsOccurCongenitalDeficiencyClinicalOvergrowthNoonan'sCharacteristicsChromosomesDiseaseDistinctGenetic disorderAdulthoodDisordersMutationsDiagnosisAutosomal dominantTrisomyChildhoodDefectiveChildren with Down syndromeHeart defectsFeaturesDefinitionMultisystemCharacteristicTypeIncludeResultPrevalencePeopleRisk
Skeletal4
  • 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. (handwiki.org)
  • Abnormal increase in skeletal or smooth muscle tone. (lookformedical.com)
  • Cutaneous and skeletal manifestations of the 13 year old patient with Myhre syndrome we describe in this report. (biomedcentral.com)
  • Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. (sjelden.no)
Chromosome7
  • 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)
  • [ 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)
  • Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (merckmanuals.com)
  • 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)
  • Jacobsen syndrome is a condition caused by a loss (deletion) of genetic material from chromosome 11. (nih.gov)
  • Because this deletion most commonly occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. (nih.gov)
Abnormalities3
  • Abnormalities in the limbs and extremities may occur in Noonan syndrome. (handwiki.org)
  • The category even includes mitochondrial abnormalities, like MERRF, MELAS, diseases in respiratory system or chain, defects in fatty acid oxidation, mitochondrial myopathies and Barth or Pompe syndromes. (epainassist.com)
  • Malformation syndromes characterize various major and minor physical abnormalities with distinctive type of facial features. (epainassist.com)
Malformation syndrome1
Signs and symptoms5
  • 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. (handwiki.org)
  • 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)
  • Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. (diseasesdic.com)
  • The signs and symptoms of Jacobsen syndrome vary considerably. (nih.gov)
  • A syndrome, by definition, is a group of signs and symptoms that occur together and form an identifiable pattern. (fdna.health)
Pediatric2
  • [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)
  • OBJECTIVE: The aim of the preliminary pilot single-center retrospective cross-sectional study was to analyze and compare the presence of non-secretory salivary inflammatory biomarkers in pediatric patients with West syndrome, Noonan syndrome, and a healthy control group. (bvsalud.org)
Turner3
Symptoms2
  • There is no cure for Down syndrome, but some specific symptoms and problems caused by the syndrome can be treated. (merckmanuals.com)
  • Common symptoms of the problem are weakness after infancy phase, decrease in muscle tones, motor control loss, reduction in muscles relaxation and reduction in muscles bulk. (epainassist.com)
Malformations1
  • Vascular malformations result from abnormal-sized vascular structures or an abnormal number of vascular structures. (medscape.com)
Occur5
  • Human growth hormone (HGH) deficiency may occur at any time during infancy or childhood, with the most obvious sign being a noticeable slowing of growth. (wikipedia.org)
  • 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)
  • Problems with swallowing and speaking can occur with ossification affecting the jaw, head, and neck, and restriction of the airway and breathing may lead to thoracic insufficiency syndrome. (beds.ac.uk)
  • However, the heart defects associated with CCHD can also occur as part of genetic syndromes that have additional features. (medlineplus.gov)
  • 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). (beds.ac.uk)
Congenital4
  • Bazex-Dupre-Christol syndrome (BDCS) is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). (nih.gov)
  • 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)
  • Cases included illustrate different causes of abnormal puberty as well as management strategies, including congenital anomalies, endocrine disorders, issues of constitutional delay, obesity, eating disorders, ovarian cancer and the effect of pharmacology, among others. (nshealth.ca)
  • Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. (sjelden.no)
Deficiency1
  • It can also be due to one or more of many abnormal conditions, such as chronic (prolonged) growth hormone or thyroid hormone deficiency, malnutrition, disease of a major organ system, mistreatment, treatment with certain drugs, chromosomal deletions. (wikipedia.org)
Clinical3
  • Asthma is a clinical syndrome characterized by episodic reversible airway obstruction, increased bronchial reactivity, and airway inflammation. (medscape.com)
  • Comprised exclusively of clinical cases covering abnormal female puberty and its clinical management, this concise, practical casebook will provide clinicians in reproductive endocrinology, gynecology and pediatrics with the best real-world strategies to properly diagnose and treat the various forms of the condition they may encounter. (nshealth.ca)
  • Pragmatic and reader-friendly, Abnormal Female Puberty: A Clinical Casebook will be an excellent resource for reproductive endocrinologists, gynecologists and pediatricians alike. (nshealth.ca)
Overgrowth1
  • The inflammatory status is triggered and amplified by the abnormal overgrowth of gingival tissues, the amplified release of proinflammatory cytokines from the immune cells, and the poor cooperation in maintaining adequate oral hygiene. (bvsalud.org)
Noonan's2
  • The development of the ears and auditory system may be affected in people with Noonan's syndrome. (handwiki.org)
  • CONCLUSIONS: West and Noonan's syndromes showed the overexpression of molecular biomarkers involved in the pathogenesis of chronic periodontitis. (bvsalud.org)
Characteristics8
  • The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (handwiki.org)
  • The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (handwiki.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)
  • 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)
  • [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)
  • The video displays children with William's Syndrome and the common facial characteristics distinct to the genetic disorder. (physio-pedia.com)
Chromosomes1
Disease3
  • 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)
  • Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome. (fdna.health)
  • In some instances, a gait disturbance may be one of the features of a rare disease or genetic syndrome. (fdna.health)
Distinct2
  • 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)
  • 1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. (findzebra.com)
Genetic disorder2
  • 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)
  • 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)
Adulthood3
  • These disorders present with various phenotypes, including early onset epileptic encephalopathy (refractory neonatal seizures, early myoclonic encephalopathy, and early infantile epileptic encephalop athy), infantile spasms, or mixed generalized seizure types in infancy, childhood, or even adolescence and adulthood. (bvsalud.org)
  • Most children with Down syndrome survive to adulthood. (merckmanuals.com)
  • The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood. (nih.gov)
Disorders1
  • Inborn metabolism errors consist of many infiltrative storage problems, the production of energy in an abnormal way, biochemical deficiencies and disorders associated with toxic substances accumulating within the heart. (epainassist.com)
Mutations8
Diagnosis2
  • C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. (biomedcentral.com)
  • However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment. (medlineplus.gov)
Autosomal dominant1
  • Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. (nih.gov)
Trisomy2
  • 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)
  • Trisomy 21 causes about 95% of the cases of Down syndrome. (merckmanuals.com)
Childhood2
  • Beginning in early childhood, people with Costello Syndrome additionally have an increased risk to develop certain cancerous and noncancerous tumors. (diseasesdic.com)
  • Changes in childhood survival have impacted the age distribution of people with Down syndrome, with more individuals living into their fourth, fifth, and sixth decades. (medicalhomeportal.org)
Defective1
  • The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (lookformedical.com)
Children with Down syndrome2
  • 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)
Heart defects2
  • Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death. (medlineplus.gov)
  • Complex heart defects are a leading cause of death in people with Jacobsen syndrome. (nih.gov)
Features4
  • 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)
  • 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. (handwiki.org)
  • Jacobsen syndrome is also characterized by distinctive facial features. (nih.gov)
Definition1
Multisystem3
  • Costello syndrome is a complex, multisystem condition, and it can lead to various complications. (diseasesdic.com)
  • Multisystem inflammatory syndrome in children (MIS-C) causes inflammation throughout the body. (akronchildrens.org)
  • also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. (beds.ac.uk)
Characteristic1
  • In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. (handwiki.org)
Type2
  • [3] [1] Noonan syndrome is a type of RASopathy , the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway. (handwiki.org)
  • Food protein induced enterocolitis syndrome, also called FPIES, is a type of delayed food allergy. (akronchildrens.org)
Include1
  • These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). (medlineplus.gov)
Result1
Prevalence4
  • 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)
People2
  • Many people with Jacobsen syndrome have been diagnosed with attention-deficit/hyperactivity disorder (ADHD). (nih.gov)
  • More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. (nih.gov)
Risk2
  • This condition causes a lifelong risk of abnormal bleeding and easy bruising. (nih.gov)
  • A study by Zhang et al suggests that those children who are genetically predisposed to asthma may be at an even higher risk if they are overweight beyond infancy. (medscape.com)