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Topic: CHARGE syndrome


In the News (Wed 30 May 12)

  
  CHARGE Syndrome Information on Healthline
CHARGE syndrome was first described in 1979 as an association of multiple congenital anomalies, all of which included choanal atresia, meaning the blocking of the choanae, the passages from the back of the nose to the throat which allow breathing through the nose.
The incidence of CHARGE syndrome is approximately one in 10,000.
CHARGE syndrome is believed to be caused by a disruption of fetal growth during the first three months of pregnancy and affecting many different organ systems undergoing development at that time.
www.healthline.com /galecontent/charge-syndrome   (781 words)

  
  Charge - Wikipedia, the free encyclopedia
In munitions and explosives, the charge is the explosive material used, for instance, to propel a bullet or shell, or demolish a structure.
In basketball, a charge is an offensive foul, called when an offensive player with the ball makes illegal contact with a defensive player who has legally established his position.
CHARGE syndrome refers to a specific set of birth defects in children.
en.wikipedia.org /wiki/Charge   (450 words)

  
 CHARGE Syndrome   (Site not responding. Last check: 2007-10-12)
CHARGE association (or syndrome) is an acronym referring to children with a specific pattern of birth defects.
Coloboma is cleft or failure of the eyeball to close resulting in abnormalities of the retina or optic nerve.
In any child suspected to have CHARGE, cardiorespiratory, ophthalmological, and audiological evaluations may be performed as well as abdominal ultrasound and chromosome evaluation.
www.dpo.uab.edu /~birmie/charge.htm   (595 words)

  
 CHARGE syndrome - Wikipedia, the free encyclopedia
CHARGE is an acronym for some of the most seen features in this syndrome.
CHARGE syndrome is sometimes referred to as an association.
CHARGE syndrome has an estimated prevalence of 1:10,000.
en.wikipedia.org /wiki/CHARGE_syndrome   (233 words)

  
 CHARGE syndrome - KP Genetics Northern California
CHARGE Syndrome is a specific set of birth defects that tend to occur together.
CHARGE is an acronym for the common clinical features often associated with the syndrome.
Although the birth weights of children with CHARGE Syndrome are usually within normal limits, failure to thrive during the first two years of life is common.
www.dor.kaiser.org /genetics/home/chargesyndrome.htm   (712 words)

  
 Children First for Health - Teens - Health - Conditions - CHARGE syndrome
CHARGE syndrome is quite rare, appearing in around one in every 10,000 children born, but it may be more common as some children may not have been diagnosed.
CHARGE syndrome is not inherited; it happens sporadically (for no reason) because part of a certain gene is missing.
While children with CHARGE syndrome need to have a fair amount of medical treatment to deal with the symptoms of the condition, many of them grow up to lead normal lives.
www.childrenfirst.nhs.uk /teens/health/conditions/c/charge.html   (483 words)

  
 Orphanet Journal of Rare Diseases | Full text | CHARGE syndrome
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness).
The highest incidence of CHARGE syndrome in Canada was estimated at 1:8,500 live births in provinces with a research interest in CHARGE syndrome [9].
Children with CHARGE syndrome who undergo cochlear implantation should be allowed to continue with their sign language in parallel with their expressive speech training [46].
www.ojrd.com /content/1/1/34   (4629 words)

  
 Charge Syndrome Materials - Medical
The age of CHARGE syndrome diagnosis was later in the scoliosis population (6.3 years compared to 3.7 years in the no scoliosis population).
The prevalence of scoliosis in the CHARGE syndrome population is higher than in the general population therefore, it is very important for physicians to carefully monitor the spine for the development of scoliosis in children with CHARGE syndrome, especially if they are being treated with growth hormone.
In this study, the author proposes that CHARGE syndrome is due to a disruption of mesenchymal-epithelial interaction (epithelial includes ectoderm and endoderm).
www.dblink.org /lib/topics/charge-med.htm   (2790 words)

  
 The Daily News   (Site not responding. Last check: 2007-10-12)
The frequency is the same in males and females and the syndrome is seen in all races.
Ear abnormalities and hearing loss: Most children with CHARGE Syndrome have unusual external ears, including short, wide ears with little or no earlobe, often with a snipped-off appearance to the helix (outer fold of the ear).
Hearing loss (conductive and/or nerve) is present in 80 to 85 percent of children with CHARGE Syndrome, ranging from mild hearing loss to profound deafness.
www.thedailynews.cc /articles/2004/04/05/news/news01.txt   (1381 words)

  
 CHARGE Articles, 2005
Sixty one percent (19 of 31) of this population was diagnosed with scoliosis.
The age of CHARGE syndrome diagnosis was later in the scoliosis population (6.3 years compared to 3.7 years in the no scoliosis population).
The prevalence of scoliosis in the CHARGE syndrome population is higher than in the general population therefore, it is very important for physicians to carefully monitor the spine for the development of scoliosis in children with CHARGE syndrome, especially if they are being treated with growth hormone.
www.tr.wou.edu /dblink/lib/topics/charge-articles05.htm   (4079 words)

  
 eMedicine - CHARGE Syndrome : Article by David H Tegay, DO, FACMG
Internationally: The estimated birth incidence of CHARGE syndrome is 1 in 8,500-12,000.
Age: CHARGE syndrome is frequently diagnosed in the neonatal or prenatal period because of the presence of multiple congenital anomalies and dysmorphic features.
Jongmans MC, Admiraal RJ, van der Donk KP, et al: CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
www.emedicine.com /ped/topic367.htm   (2462 words)

  
 Special Child: Disorder Zone Archives - CHARGE Syndrome
CHARGE syndrome (also known as CHARGE association) involves a specific set of birth defects that occur in early fetal development, however, the exact cause of the syndrome is not known.
CHARGE syndrome affects 1 in 10,000 to 1 in 12,000 live births, occurs in both males and females and has been seen in all races and socioeconomic backgrounds.
The diagnosis of CHARGE syndrome is based on finding at least four of the six characteristics associated with the syndrome, and should be made by a medical geneticist who has ruled out other syndromes with similar features.
www.specialchild.com /archives/dz-014.html   (3747 words)

  
 PCSP - C.H.A.R.G.E. Account: The Health Economics of Managing CHARGE Syndrome
Introduction: CHARGE syndrome (Coloboma, Heart defects, Atresia of the Choanal, Retardation of Growth and Development, Genital Anomalies, Ear Anomalies) is an example of a complex congenital anomaly syndrome.
Methods: An index case of CHARGE syndrome was chosen from the Maritime population of CHARGE individuals (n=12).
Implications for Practice: With increasing survival of complex congenital anomaly syndromes like CHARGE and knowledge of the incidence and prevalence, there will be a need to allocate funding in the health care system to care for these children and to predict the costs as they grow into young adults.
www.cps.ca /Francais/surveillance/pcsp/Resumes/CHARGEaccount.htm   (315 words)

  
 CHARGE Association
Most children with CHARGE have unusual external ears, including short, wide ears with little or no earlobe, often with a "snipped©off" appearance to the helix (outer fold of the ear).
CHARGE Association is usually sporadic with no other affected individuals in the family.
The intelligence of children with CHARGE is often underestimated due to the combined hearing and vision problems.
www.kumc.edu /gec/support/charge.html   (932 words)

  
 CHARGE Syndrome
CHARGE syndrome is a genetic disorder (one in 10,000 to15,000 live births) with multiple physical, sensory, and behavioral anomalies.
CHARGE is presently the leading genetic cause of deaf-blindness at birth in the United States.
In children with CHARGE syndrome, the value of services offered by SLPs and audiologists is enhanced when other aspects of the disorder, such as clinical and genetic diagnosis, feeding and swallowing, behavior, and education, are understood.
www.asha.org /about/publications/leader-online/archives/2006/061017/f061017a.htm   (1161 words)

  
 Charge Syndrome (Cardiogene at Baylor College of Medicine)
The acronym CHARGE refers to a common clustering of congenital defects: coloboma of the eye, heart malformation, choanal atresia, growth and developmental abnormalities, malformations of the genitourinary system, and ear abnormalities with deafness.
Children with CHARGE may also have a variety of other health problems including cleft lip/cleft palate, facial nerve palsy, swallowing difficulty, tracheoesophageal fistula, and respiratory problems.
The cause of CHARGE syndrome is still not known.
www.cardiogene.org /charge/background.htm   (422 words)

  
 CHARGE Syndrome
A "syndrome" is described as a recognizable pattern of birth defects.
It is important however, to discuss the risks for passing CHARGE Syndrome to future generations with a trained geneticist.
However, it is also a good idea to contact the CHARGE Syndrome Foundation to help the family learn more about the specific condition and what other families have done in similar situations.
www.tsbvi.edu /Outreach/seehear/winter99/charge.htm   (1129 words)

  
 CHARGE Syndrome
It is possible that the main title of the report CHARGE Syndrome is not the name you expected.
CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems.
In addition to the CHARGE features, most children with CHARGE syndrome have other features, including characteristic facial features, cleft lip or palate, esophageal atresia (blind-ending food pipe) or tracheoesophageal fistula (connection between the wind pipe and the food pipe).
www.webmd.com /hw/raising_a_family/nord550.asp   (513 words)

  
 GeneDx :: Tests :: CHARGE Syndrome
Individuals with CHARGE Syndrome (aka CHARGE Association) have a constellation of birth defects which include coloboma of the eye and other developmental eye anomalies, congenital heart defects, choanal atresia or stenosis, mental and growth retardation, and ear anomalies.
The features in CHARGE syndrome are variable in expression and presentation (see http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800) for details.
CHARGE syndrome is an autosomal dominant condition affecting males and females equally.
www.genedx.com /services/dis_chd.php   (247 words)

  
 Indiana State University : Blumberg Center : Indiana Deafblind Services Project: Online Modules: Introduction to ...
Down Syndrome is a genetic condition in which part of an extra chromosome or an extra chromosome is located on a cell and fails to separate.
This syndrome is an autosomal recessive trait in which learners are born with some degree of hearing loss and lose their vision, in part or entirely, to Retinitis Pigmentosa (RP).
Usher Syndrome Type II is when learners are born with a congenital hearing loss that is usually moderate in the lower frequencies and severe in the higher frequencies.
web.indstate.edu /soe/blumberg/dbtrainingmodDBIntro3.html   (3048 words)

  
 CPSP - Charge Association/Syndrome: Looking Ahead
CHARGE association/syndrome (A/S) has emerged as one of the most common causes of deaf-blindness in children.
The deaf-blind child with CHARGE A/S should receive education appropriate for dual-sensory impairment within the first few months of life, allowing the child to benefit from experts in audiology, speech therapy, otorhinolaryngology and ophthalmology.
Consequently, adolescents with CHARGE A/S are in the lower percentiles on growth charts.
www.cps.ca /English/surveillance/cpsp/Resources/CHARGE.htm   (1186 words)

  
 SEMA3E mutation in a patient with CHARGE syndrome -- Lalani et al. 41 (7): e94 -- Journal of Medical Genetics
CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21)(q13.1;q22.3).
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).
jmg.bmjjournals.com /cgi/content/full/41/7/e94   (1755 words)

  
 Medical Dictionary: CHARGE syndrome - WrongDiagnosis.com
CHARGE syndrome: An association of posterior choanal atresia with variable multiple abnormalities which include delayed mental and somatic development, ocular coloboma, ear abnormalities, deafness (usually associated with recurrent otitis, rather than ear anomalies), hypogenitalism, and heart defects.
The syndrome occurs twice as often in girls as in boys and usually affects the right side of the body.
CHARGE syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
www.wrongdiagnosis.com /medical/charge_syndrome.htm   (372 words)

  
 Deafblind International
The CHARGE Network has the objective of achieving equal rights and full participation in society for anyone with CHARGE, and to become a worldwide forum for the exchange of knowledge and experience in the area of the condition known as CHARGE.
Membership of the CHARGE Network is open to people with CHARGE, their families and professionals working on their behalf.
The CHARGE Network seeks to establish and maintain relations with the European Union (Parliament, Commission and Council), and with the institutions of the United Nations.
www.deafblindinternational.org /standard/cause_charge.html   (324 words)

  
 CHARGE Syndrome - Good Health by SETON
CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems.
In addition to the CHARGE features, most children with CHARGE syndrome have other features, including characteristic facial features, cleft lip or palate, esophageal atresia (blind-ending food pipe) or tracheoesophageal fistula (connection between the wind pipe and the food pipe).
The symptoms of CHARGE syndrome vary greatly from one child to another.
www.goodhealth.com /health_a_to_z/health_library/support_group/charge_syndrome   (483 words)

  
 Board Members CHARGE Syndrome Canada - President Cydne Park   (Site not responding. Last check: 2007-10-12)
When Amy was born with CHARGE Syndrome twelve years ago, the only connection with families at that time came through the CHARGE Syndrome Foundation in the United States.
Although the correct medical diagnosis of CHARGE Syndrome has increased, for the majority of families that have children born with CHARGE, this is not the case.
I am excited to be playing a part toward the success of CHARGE Syndrome Canada in meeting their mission and mandate.
www.chargesyndrome.ca /cydne.html   (527 words)

  
 SESA Newsletter Fall 2002 - CHARGE syndrome   (Site not responding. Last check: 2007-10-12)
CHARGE is quickly becoming one of the major causes of deafblindness or dual sensory impairments.
Instead it is the pattern of the major and minor criteria which identifies this syndrome.
One of the outcomes in identifying a child with CHARGE is professionals and family members learning how to promote the child’s continued growth and development.
www.sesa.org /newsltr/Fall02/Charge.html   (566 words)

  
 Project for New Mexico Children and Youth Who Are Deafblind Fact Sheets
CHARGE syndrome refers to a specific set of birth defects commonly found together.
Physical delay: Although most children with CHARGE Syndrome are average size at birth, many will become small due to nutritional problems, heart problems, or growth hormone deficiency.
For a diagnosis of CHARGE Syndrome to be made, four of the six characteristics must be present.
cdd.unm.edu /deafblind/general/charge.htm   (350 words)

  
 Families first for health: Dear Doc - CHARGE syndrome   (Site not responding. Last check: 2007-10-12)
CHARGE syndrome is a very rare, complex genetic condition.
More research is needed to further understanding of why the condition happens, but in 2004 a team of researchers from the Netherlands identified a mutation in a gene (chromo domain 7) that was found in more than half of all children with CHARGE syndrome.
If a diagnosis of CHARGE syndrome is confirmed, it would be a good idea for your daughter to be referred to a paediatric geneticist.
www.childrenfirst.nhs.uk /families/health/dear_doc/CHARGE_syndrome.html   (349 words)

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