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Topic: Congenital disorder


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  Congenital disorder - Biocrawler   (Site not responding. Last check: 2007-09-17)
Congenital disorders can be a result of genetic abnormalities, the intrauterine environment, or unknown factors.
Congenital disorders include minor physical anomalies (e.g., a birthmark), severe malformations of single systems (e.g., congenital heart disease or amelia of the legs), and combinations of abnormalities affecting several parts of the body.
Some congenital disorders arise from inheritance of abnormal genes from the parents but some can arise from a new mutation in one of the germ cells that contributed to the fetus.
www.biocrawler.com /encyclopedia/Congenital   (888 words)

  
 Reference.com/Encyclopedia/Congenital disorder
A congenital disorder is any medical condition that is present at birth, as contrasted with an acquired disorder.
Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recess disorder) or of only one of the two copies (a dominant disorder).
Congenital conditions can be referred to as diseases, defects, disorders, anomalies, or simply genetic differences.
www.reference.com /browse/wiki/Congenital_disorder   (1099 words)

  
  Congenital
Congenital disorders can be a result of genetic abnormalities, the intrauterine environment, or unknown factors.
Congenital disorders include minor physical anomalies (e.g., a birthmark), severe malformations of single systems (e.g., congenital heart disease or amelia of the legs), and combinations of abnormalities affecting several parts of the body.
Some congenital disorders arise from inheritance of abnormal genes from the parents but some can arise from a new mutation in one of the germ cells that contributed to the fetus.
www.kopete.org /Congenital.html   (872 words)

  
 Congenital platelet function defects
Congenital (present at birth) platelet function defects are disorders of the platelets, the blood cells essential for the coagulation of the blood.
Congenital platelet function defects are bleeding disorders characterized by abnormal platelet function in spite of normal platelet counts.
Bernard-Soulier syndrome is a congenital disorder where the platelets lack receptors to adhere to the walls of the blood vessels.
www.pennhealth.com /ency/article/000582.htm   (418 words)

  
 Dr. Koop - Congenital platelet function defects   (Site not responding. Last check: 2007-09-17)
Congenital (present at birth) platelet function defects are disorders of the platelets, the blood cells essential for the coagulation of the blood.
Congenital platelet function defects are bleeding disorders characterized by abnormal platelet function in spite of normal platelet counts.
Bernard-Soulier syndrome is a congenital disorder where the platelets lack receptors to adhere to the walls of the blood vessels.
www.drkoop.com /ency/1/000582.html   (331 words)

  
 Congenital disorder - ArticleWorld   (Site not responding. Last check: 2007-09-17)
Congenital disorders are physical or mental disorders present at birth and can be minor such as a birthmark or very serious affecting one or several parts of the body to such an extent as to be problematic.
About a quarter of all congenital disorders are due to genetic abnormalities, some of which are inherited, and others which are the result of a new mutation.
There are many congenital disorders, however, for which the cause is not known and these are called ‘sporadic birth defects.
www.articleworld.org /index.php?title=Congenital_disorder&printable=yes   (171 words)

  
 Congenital hypothyroidism - Genetics Home Reference
Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism).
Mutations in the DUOX2, PAX8, SLC5A5, TG, TPO, TSHB, and TSHR genes cause congenital hypothyroidism.
Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family.
ghr.nlm.nih.gov /condition=congenitalhypothyroidism   (755 words)

  
 LLLI | Congenital Disorders
When a baby is born with a congenital disorder, mothering occurs in the context of the special needs of baby, mother, and family.
An understanding of the potential physical and emotional consequences of congenital disorders or anomalies and their impact on breastfeeding and mothering will help the Leader more sensitively and effectively provide information and support even when breastfeeding resources specific to a disorder are unavailable.
Some disorders are so rare that little research has been conducted on their cause, diagnosis, or treatment and no organizations have been formed to meet the needs of families.
www.lalecheleague.org /llleaderweb/LV/LVDec99Jan00p123.html   (5413 words)

  
 Congenital adrenal hyperplasia - MayoClinic.com
Congenital adrenal hyperplasia is a family of genetic conditions affecting your adrenal glands.
Congenital adrenal hyperplasia may also result in the adrenals manufacturing abnormal levels of two other classes of hormones — mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone).
There are two major types of this disorder: classic congenital adrenal hyperplasia, the more severe form of the disease affecting very young children; and nonclassic congenital adrenal hyperplasia, a milder form that usually develops in late childhood or early adulthood.
www.mayoclinic.com /health/congenital-adrenal-hyperplasia/DS00915/METHOD=displayFull   (242 words)

  
 Congenital Heart Disease : Gourt
From the committee on congenital cardiac defects of the council on cardiovascular disease in the young.
Congenital Heart Diseases Their Study and Treatment - A most complete manual, text and graphics by Oliver W. Caminos M.D. CongenitalHeartDefects.com - Information, resources and support for families and individuals dealing with congenital heart defects.
Ventricular Septal Defect - VSD is one of the commonest congenital heart defects, where there's a hole in the wall between the two lower chambers of the heart.
www.gourt.com /Health/Conditions-and-Diseases/Cardiovascular-Disorders/Heart-Disease/Congenital.html   (1413 words)

  
 Congenital heart disorder - WrongDiagnosis.com
Congenital heart disorder (medical condition): Heart defects or problems that are already present when the baby is born.
Congenital heart defects may be so mild that they may not become apparent for years or it may be immediately life threatening.
Congenital heart disorder : imperfections or malformations of the heart, existing at, and usually before, birth regardless of their causation.
www.wrongdiagnosis.com /medical/congenital_heart_disorder.htm   (432 words)

  
 [No title]   (Site not responding. Last check: 2007-09-17)
“Argininosuccinic acidemia” means a congenital disorder characterized by an inability to metabolize the amino acid, argininosuccinic acid, due to defective argininosuccinate lyase activity.
“Congenital disorder” means an abnormal condition present at birth, as a result of heredity or environmental factors, that impairs normal physiological functioning of a human body.
“Trifunctional protein deficiency” means a congenital disorder characterized by an inability to metabolize fatty acids that are 12 to 18 carbon atoms in length due to defective mitochondrial trifunctional protein activity.
www.azdhs.gov /diro/admin_rules/nbs_rules_draft_092905.doc   (5078 words)

  
 Congenital disorder of Glycosylation
CDG Ia (212065) is caused by mutation in the gene encoding phosphomannomutase-2 (PMM2; 601785).
Congenital disorders of glycosylation, previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al.
These symptoms, referred to as CDG (for congenital disorders of glycosylation, or, until recently, for carbohydrate-deficient glycoprotein syndrome), are caused by mutations that affect the pathway for N-glycosylation.
www.lymphedemapeople.com /thesite/congenital_disorder_of_glycosylation_type_1b.htm   (7476 words)

  
 OHSU Health - Congenital Liver Defects   (Site not responding. Last check: 2007-09-17)
Congenital liver defects that affect the flow of bile share some common symptoms.
The symptoms of congenital liver defects may resemble other medical conditions or problems.
Congenital liver defects that affect the flow of bile are usually diagnosed at birth or shortly afterward.
www.ohsuhealth.com /htaz/liver/disorder/congenital_liver_defects.cfm   (254 words)

  
 Cayler Syndrome
Congenital Facial Palsy is a rare disorder characterized by the complete or partial paralysis of facial muscles and weakness of facial nerves at birth (congenital).
The disorder is inherited as an autosomal dominant genetic trait.
Moebius Syndrome is a rare developmental disorder characterized by facial paralysis at birth (congenital), due to impairment of the 6th (abducens) and/or 7th (facialis) cranial nerves.
hw.healthdialog.com /kbase/nord/nord1037.htm   (1899 words)

  
 More on Congenital
A congenital disorder can be recognized before birth (prenatally), at birth, or many years later.
These are referred to as sporadic birth defects, a term which implies an unknown cause, random occurence, and and a low recurrence risk for future children.
Birth defect is a widely-used term for a structural malformation of a body part, recognizable at birth, which is significant enough to be perceived as a problem.
www.psyhist.com /congenital.htm   (1066 words)

  
 Congenital Heart Disease
Congenital heart diseases are defects in the heart and major blood vessels that are present at birth and occur at various stages of fetal development.
If an unborn child has an immediate relative (a sibling or parent) who had a congenital heart disease, he or she has a two to three percent risk of being born with a congenital heart disease.
In this defect, there is a hole in the wall that separates either the atrial chambers of the heart or the ventricles at the level of the valves.
www.csmc.edu /pf_5640.html   (935 words)

  
 SUB Göttingen - Dissertationen - Thiel, Christian: Congenital Disorder of Glycosylation (CDG) - Ih
Congenital Disorders of Glycosylation (CDG) comprise a rapidly growing group of multisystemic inherited disorders caused by mutations in genes which are required for the biosynthesis of glycoproteins.
The disorder was localised in the decreased activity of the human ortholog of the yeast ALG2 mannosyltransferase which catalyses the transfer of mannose residues onto Man1GlcNAc2-PP-dolichyl at the cytosolic site of the endoplasmic reticulum in the early onset of glycoprotein biosynthesis.
Die "Congenital Disorders of Glycosylation (CDG)" beschreiben eine schnell wachsende Gruppe von multisystemischen Erberkrankungen, die durch Mutationen in für die Biosynthese von Glykoproteinen benötigten Genen verursacht werden.
webdoc.sub.gwdg.de /diss/2003/thiel/index.html   (442 words)

  
 ScienceDaily: Gene Located For Rare Fat Disorder
Lipodystrophy disorders cause selective loss of body fat and are associated with the same metabolic complications as obesity - lipid disorders and diabetes.
The gene for the disorder was found on the long arm of chromosome 9, and studies are under way to isolate the gene.
Specific Gene Mutations Responsible For Congenital Heart Defects (July 8, 2003) -- Researchers at UT Southwestern Medical Center at Dallas have discovered a gene critical to the development of the human heart and that mutations in the gene lead to congenital heart defects the...
www.sciencedaily.com /releases/1999/09/990915080526.htm   (1614 words)

  
 Congenital disorder Summary
The term congenital is used to describe a condition or defect that exists at birth.
Congenital disorders are present in the developing fetus.
A birth defect is an anomaly that is congenital, or present from birth.
www.bookrags.com /Congenital_disorder   (325 words)

  
 * Congenital Disorder - (Pregnancy & Parenting): Definition
Congenital Disorder -- A condition that affects a fetus before it is born.
Any tests conducted on a woman or her fetus before a baby is born.
Today's expectant mothers are much better informed than were their own mothers, and have heard about many of the more than 3,000 congenital disorders parents can pass along to their babies.
en.mimi.hu /pregnancy/congenital_disorder.html   (193 words)

  
 Congenital Myopathy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
Congenital myopathy is a term for any muscle disorder present at birth.
In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood.
Centronuclear (myotubular) myopathy is an inherited genetic disorder characterized by muscle weakness and loss of tone present at birth or by development of muscle weakness later in infancy.
www.ninds.nih.gov /disorders/myopathy_congenital/myopathy_congenital.htm   (491 words)

  
 Congenital disorder - WrongDiagnosis.com
Congenital disorder (medical condition): Any condition that you are born with such as birth defects or genetic diseases.
Congenital disorder : existing at, and usually before, birth; referring to conditions that are present at birth, regardless of their causation; inborn metabolism disorders are generally not treed here.
Congenital disorder: Another name for Congenital conditions (or close medical condition association).
www.wrongdiagnosis.com /medical/congenital_disorder.htm   (301 words)

  
 Hepatic Fibrosis, Congenital
Congenital Hepatic Fibrosis (CHF) is a rare disease that affects both the liver and kidneys.
The patient is born with this disorder (congenital), and it is inherited as an autosomal recessive trait.
The typical liver abnormalities are an enlarged liver (hepatomegaly), increased pressure in the venous system that carries blood from different organs to the liver (portal hypertension), and fiber-like connective tissue that spreads over and through the liver (hepatic fibrosis), often referred to as hepatic lesions.
www.webmd.com /hw/parenting_news/nord860.asp   (476 words)

  
 NEW DEVELOPMENTS IN THE TREATMENT AND DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA   (Site not responding. Last check: 2007-09-17)
Congenital adrenal hyperplasia (CAH), also termed adrenogenital syndrome in older literature, is a common inherited form of adrenal insufficiency.
This group of diseases is due to mutations (genetic defects) in the genes coding for several enzymes needed for the production of adrenal cortex hormones.
Considering the enormous profits now reaped by health insurers, and large savings to employers through managed care, this would seem a practical way of ensuring the continued health of the US population and confirm our role as innovators in providing outstanding medical care through ongoing research.
www.medhelp.org /www/nadf5.htm   (2258 words)

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