21. DiGeorge Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders digeorge syndrome digeorge syndrome. Information • Diagnosis • Treatment • Prevention. External links http://www.healthcyclopedia.com/genetic-disorders/digeorge-syndrome.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... genetic disorders > digeorge syndrome DiGeorge Syndrome Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Chronic Illness Genetic Disorders/Velo-Cardio-Facial Syndrome Immune Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "syndrome, digeorge" Health News: Search millions of published articles for news on DiGeorge Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Dr. Greene's HouseCalls The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome. National Library of Medicine: DGS DiGeorge syndrome, the synonyms, a summary and list of major features.

22. DiGeorge Syndrome digeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early http://www.bchealthguide.org/kbase/nord/nord74.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord74"; var hwDocTitle="DiGeorge Syndrome"; var hwRank="1"; var hwSectionHWID="nord74"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. DiGeorge Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Congenital Absence of the Thymus and Parathyroids DGS Harrington Syndrome Pharyngeal Pouch Syndrome Third and Fourth Pharyngeal Pouch Syndrome Thymic Agenesis Thymic Aplasia, DiGeorge Type Thymic Hypoplasia, DiGeorge Type Thymus, Congenital, Aplasia Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Hypoparathyroidism Shprintzen Syndrome Agammaglobulinemias, Primary Nezelof Syndrome Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome General Discussion DiGeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development. These defects occur in areas known as the 3rd and 4th pharyngeal pouches, which later develop into the thymus and parathyroid glands. Developmental abnormalities may also occur in the 4th branchial arch.

23. DIGEORGE SYNDROME Features Listed For digeorge syndrome. McKusick 188400. Absent/hypoplastic thymus; Cleft palate; Cleft upper lip (nonmidline); Cleft uvula; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?468

24. UAB Health System | DiGeorge Syndrome digeorge syndrome. What is digeorge syndrome? However, for the purposes of this content, we will call it digeorge syndrome. What causes digeorge syndrome? http://www.health.uab.edu/show.asp?durki=64298

25. DiGeorge Syndrome Agammaglobulinemia Resources Combined Immune Deficiency, digeorge syndrome. digeorge syndrome. Family Village digeorge syndrome. 04/27/03. http://www.pedpid.com/digeorge_syndrome.htm

Home Up Access Devices Agammaglobulinemia ... Dental DiGeorge Syndrome Equipment Gastrointestinal Disorders Hyper IgE Hyper IgM ... Combined Immune Deficiency DiGeorge Syndrome DiGeorge Syndrome Family Village - DiGeorge Syndrome

26. DiGeorge Syndrome - Lucile Packard Children's Hospital Diabetes Other Endocrine and Metabolic Disorders. digeorge syndrome The Thymus and hormone. What is digeorge syndrome? The history http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/diabetes/digeorge.html

Diabetes Clinic Endocrinology Endocrinologists Diabetes and Other Endocrine and Metabolic Disorders DiGeorge Syndrome The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. What is DiGeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings) cleft lip and/or palate The name DiGeorge syndrome was applied to this group of features.

27. DiGeorge Syndrome - Lucile Packard Children's Hospital Cardiovascular Diseases. digeorge syndrome The Thymus and Parathyroid parathyroid hormone. What is digeorge syndrome? The history http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/cardiac/digeorge.html

Arrhythmia Service/Electrocardiography (ECG) Laboratory Cardiac Catheterization / Angiography Cardiology Cardiothoracic Surgery ... Packard Heart Surgeon Performs Operation on Smallest Infant Cardiovascular Diseases DiGeorge Syndrome The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. What is DiGeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system

28. DiGeorge Syndrome . The prevalence of digeorge syndrome, is debated; the estimates range from 14000 to 16395.......MAIN SEARCH INDEX. digeorge syndrome. http://www.ehendrick.org/healthy/000433.htm

MAIN SEARCH INDEX DiGeorge syndrome Definition Description Causes and symptoms Diagnosis ... Resources Definition DiGeorge syndrome (also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormal chromosome and affects the baby's immune system. The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for the pediatrician who first described it in 1965. Description The prevalence of DiGeorge syndrome, is debated; the estimates range from 1:4000 to 1:6395. Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often than was previously thought. DiGeorge syndrome is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics-cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia-caused by a deletion of several genes in chromosome 22. The specific facial features associated with DiGeorge syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. The syndrome appears to be equally common in all racial and ethnic groups. Causes and symptoms DiGeorge syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus. The type of defect that is involved is called deletion. A deletion occurs when the genetic material in the chromosomes does not recombine properly during the formation of sperm or egg cells. The deletion means that several genes from chromosome 22 are missing in DiGeorge syndrome patients. According to a 1999 study, 6% of children with DiGeorge syndrome inherited the deletion from a parent, while 94% had a new deletion. Other conditions that are associated with DiGeorge syndrome are diabetes (a condition where the pancreas no longer produces enough insulin) in the mother and

29. DiGeorge Syndrome digeorge syndrome occurs about once in every 50,000 live births. It is......digeorge syndrome. Definition digeorge syndrome http://www.chclibrary.org/micromed/00045370.html

Main Search Index Definition Description Causes ... Resources DiGeorge syndrome Definition DiGeorge syndrome, which is also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome, is a birth defect that affects the immune system. (The pharynx is a passage between the mouth and one of the openings of the nasal cavity).The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for the pediatrician who first described it in 1965. Description DiGeorge syndrome occurs about once in every 50,000 live births. It is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics Cardiac defects, Abnormal facial features, Thymus underdevelopment, Cleft palate, and Hypocalcemia caused by defects in chromosome 22. The specific facial features associated with DiGeorge syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. DiGeorge syndrome is caused by inheritance of a defective chromosome 22 from the mother in most cases. The third and fourth pharyngeal pouches fail to develop normally during the 12th week of

30. UNSW Embryology-OMIM DIGEORGE SYNDROME Embryology Home Page. digeorge syndrome. Select Entry from OMIM. List of OMIM search results. *188400 digeorge syndrome; DGS. Alternative titles; symbols. http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/endocrine/OMIM-188400.htm

UNSW Embryology DEVELOPMENT OF THE ENDOCRINE SYSTEM Embryology Home Page DIGEORGE SYNDROME Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Kidney Notes List of OMIM search results *188400 DIGEORGE SYNDROME; DGS Alternative titles; symbols HYPOPLASIA OF THYMUS AND PARATHYROIDS THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED SHPRINTZEN VCF SYNDROME, INCLUDED TAKAO VCF SYNDROME, INCLUDED CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED VELOCARDIOFACIAL SYNDROME, INCLUDED CATCH22, INCLUDED TABLE OF CONTENTS DESCRIPTION NOMENCLATURE CLINICAL FEATURES BIOCHEMICAL FEATURES ... Database Links Gene Map Locus: Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.

31. HONselect - DiGeorge Syndrome Language MeSH term Accepted terms English digeorge syndrome, Syndrome, DiGeorge. http://www.hon.ch/HONselect/RareDiseases/C20.673.340.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: DiGeorge Syndrome - Syndrome, DiGeorge Français: DIGEORGE, SYNDROME Deutsch: Di-George-Syndrom Español: SINDROME DE DIGEORGE - DISPLASIA DEL TIMO - APLASIA DEL TIMO - AGENESIA DEL TIMO Português: SINDROME DE DIGEORGE - DISPLASIA DO TIMO - APLASIA DO TIMO - AGENESIA DO TIMO HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C20.673.340.html Last modified: Wed Apr 28 2004

32. HON - News : New Link To DiGeorge Syndrome Resources from HONselect. New Link to digeorge syndrome Gene that helps form baby s blood vessels is key player in birth defect disease. THURSDAY, Feb. http://www.hon.ch/News/HSN/511634.html

All Web sites HONcode sites HONselect News ... I J K L M N ... P Q R S T U ... W X Y Z Browse archive: J M A M ... S Other news for: Hereditary Diseases Genetics Resources from HONselect New Link to DiGeorge Syndrome Gene that helps form baby's blood vessels is key player in birth defect disease THURSDAY, Feb. 6 (HealthScoutNews) A gene that helps blood vessels form in developing babies is a key player in a chromosomal abnormality that causes birth defects in the heart and throughout the body. An international study in the February issue of Nature Medicine says that abnormalities in vascular endothelial growth factor (VEGF) are a cause of DiGeorge syndrome. This syndrome can cause a wide range of heart defects. It can also cause mental retardation, problems in the thymus and parathyroid gland, and craniofacial defects. Finding out how and why abnormalities occur in VEGF may help scientists find ways to prevent them. In this study, scientists studied animals, including mice and zebra fish, and DNA samples from people with DiGeorge syndrome. More information Here's where you can learn more about DiGeorge syndrome SOURCE: Medical College of Georgia, news release, Feb. 4, 2003

33. EPEC - Educating Parents Of Extra-special Children - DiGeorge Syndrome digeorge syndrome. DIGEORGE offspring). This deletion means that several genes from this region are not present in digeorge syndrome patients. http://www.epeconline.com/DiGeorge.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. DiGeorge Syndrome DIGEORGE SYNDROME is a rare congenital (i.e. present at birth) disease whose symptoms vary greatly between individuals, but commonly include a history of recurrent infection, heart defects and characteristic facial features. DiGeorge syndrome is caused by a large deletion from chromosome 22, produced by an error in recombination at meiosis (the process that creates germ cells and ensures genetic variation in the offspring). This deletion means that several genes from this region are not present in DiGeorge syndrome patients. It appears that the variation in the symptoms of the disease is related to the amount of genetic material lost in the chromosomal deletion. Although researchers now know that the DGS gene is required for the normal development of the thymus and related glands, counteracting the loss of DGS is difficult. Some effects, for example, the cardiac problems and some of the speech impairments, can be treated either surgically or therapeutically, but the loss of immune-system T-cells (produced by the thymus) is more challenging, and requires further research on recombination and immune function. The above information was provided by: National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/

34. Diabetes & Other Endocrine And Metabolic Disorders - DiGeorge Syndrome digeorge syndrome. What is digeorge syndrome? The Thymus and Parathyroid Glands. The name of digeorge syndrome was applied to this group of features. http://www.chkd.org/Diabetes/digeo.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmology Orthopedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. DiGeorge Syndrome What is DiGeorge syndrome? The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries:

35. Science News: Thymus Tissue Heals DiGeorge Syndrome - Brief Article You are Here Articles Science News Nov 20, 1999 Article. Thymus tissue heals digeorge syndrome.(Brief Article) Science News, Nov 20, 1999, by NS. http://www.findarticles.com/cf_dls/m1200/21_156/58225086/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Reference Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles Science News Nov 20, 1999 Content provided in partnership with Print friendly Tell a friend Find subscription deals Thymus tissue heals DiGeorge syndrome - Brief Article Science News Nov 20, 1999 by N.S. The rare baby born without a thymus gland can't defend itself. In the thymus, which sits atop the heart, the body's T cells learn the most important lessons of immunology: which cells to attack and which to let live. Without a thymus, a baby had no chance to live beyond a few years, until now. Infants missing all or part of a thymus have DiGeorge syndrome. Babies with even a small thymus usually survive. Researchers at Duke University Medical Center in Durham, N.C., have implanted thin slices of thymus tissue into the thigh muscles of 2-to-4-month-old babies with DiGeorge syndrome. The tissue had been removed from other babies during heart surgery and would otherwise have been discarded. Because the transplant recipients had no thymus to instruct T cells to attack the foreign tissue, it wasn't rejected. T cells proliferated in four of the five recipients. Two of these patients survived and are now 1 1/2 and 6 years old. The other three died before their first birthday of infections or abnormalities associated with DiGeorge syndrome but unrelated to the transplant operation, the researchers report in the Oct. 14 NEW ENGLAND JOURNAL OF MEDICINE.

36. Joecool.pathology.washington.edu/Cytogallery/Index_links/digeorge.html Congenital Heart Disease Guide digeorge syndromedigeorge syndrome Click to print page. When People with digeorge syndrome are usually rather small and may be slow developers. They http://joecool.pathology.washington.edu/Cytogallery/Index_links/digeorge.html

37. Clinical Trial: Immunologic Evaluation In Patients With DiGeorge Syndrome Or Vel Immunologic Evaluation in Patients With digeorge syndrome or Velocardiofacial Syndrome. This study is currently recruiting patients. Sponsored by. http://www.clinicaltrials.gov/ct/show/NCT00005102?order=3

38. Bbc.co.uk - Health - Illnesses And Conditions DiGeorge Syndrome A guide to digeorge syndrome, facts about the condition and where to go for support. AZ Illnesses and Conditions. digeorge syndrome By Dr Trisha Macnair. http://www.bbc.co.uk/health/conditions/di_george.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index WEDNESDAY 2nd June 2004 Text only BBC Homepage Health Home Lifestyle Home ... Conditions QUICK GUIDE A-Z Children's Ailments IN-DEPTH Addictions Allergies Arthritis Asthma ... Help Like this page? Send it to a friend! A-Z Illnesses and Conditions DiGeorge Syndrome By Dr Trisha Macnair DiGeorge Syndrome (DGS) is an inherited condition that lies at the more severe end of a spectrum of syndromes (sometimes referred to as CATCH22) that result when a small part of the DNA on chromosome 22 is missing. Several different genes are lost, resulting in a collection of different features that make up the syndrome, including problems with the immune system, congenital heart defects and abnormalities of the parathyroid glands. Babies with DiGeorge Syndrome are born with a variety of different problems, some or all of which may be present to varying degrees. The parathyroid glands in the neck may have failed to develop, leading to low levels of calcium in the blood. This can result in muscle spasms (tetany) and seizures. The thymus gland may also be underdeveloped or absent, resulting in a deficiency of an important type of immune cell known as the T lymphocyte. Infections (seldom life threatening), and autoimmune disease (such as haemolytic anaemia, inflammatory bowel disease and juvenile rheumatoid arthritis) are common. There are often heart defects, particularly affecting the large vessels that lead out of the heart, such as Tetralogy of Fallot, truncus arteriosus, and an interrupted aortic arch.

39. DiGeorge Syndrome - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List digeorge syndrome. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=2996

40. Molecular Medicine Unit Molecular Medicine Unit Projects (1). digeorge syndrome (DGSI)/CATCH22. Most Cases of digeorge syndrome have Deletions Within 22q11. http://www.ich.ucl.ac.uk/units/mmu2.htm

Molecular Medicine Unit Projects (1) DiGeorge syndrome (DGSI)/CATCH22 The unit investigates the clinical and molecular defects in this spectrum of disorders. A range of positional cloning, developmental and functional analyses are undertaken. We are priviledged to work with a large number of groups in the UK and internationally. From: Scambler, P.J. (1994). DiGeorge syndrome and related birth defects. Seminars in Developmental Biology ABSTRACT Classically, DiGeorge syndrome patients have congenital heart defects, particularly involving the outflow tract, hypocalcaemia, cell-mediated immune deficiency, learning or behavioural problems, craniofacial dysmorphism and hemizygosity for a region of human chromosome 22q11. This chromosomal abnormality is now known to cause other syndromal defects and apparently isolated congenital heart disease. Although most patients have a large deletion, at least 2Mb, a critical region of 300kbp has been defined. Within this region a putative transcriptional regulator called TUPLE-1 has been identified.

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