1. DiGeorge Syndrome (DGS) digeorge syndrome, the synonyms, a summary and list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome268.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome DiGeorge syndrome (DGS) Synonyms DiGeorge anomaly DiGeorge sequence familial third and fourth pharyngeal pouch syndrome pharyngeal pouch syndrome third and fourth pharyngeal pouch syndrome thymic aplasia syndrome thymic and parathyroid agenesis syndrome Summary A developmental defect of derivatives of the third and fourth pharyngeal pouches, almost always associated with agenesis or hypoplasia of the thymus and parathyroid gland, characteristic facies with downslanting palpebral fissures and ocular and nasal anomalies, hypocalcemia, cardiovascular anomalies, immunodeficiency, and other variable abnormalities. Patients who survive infancy are usually mentally retarded. DiGeorge syndrome is considered by some researchers as a developmental field defect consisting of several casually distinct disorders, rather than a distinct syndromic entity. Conditions associated with the development of DiGeorge syndrome include diabetic embryopathy, fetal alcohol syndrome, and Zellweger syndrome. Major features of this syndrome have been designated by the Newcastle Upon Tyne Group CATCH 22 (Cardiac, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia), the number 22 indicating deletion of the long arm of chromosome 22 (22q11). Major Features Head and neck: Micrognathia.

2. DiGeorge Syndrome digeorge syndrome information and inks to national and international support groups, clinics with genetic counselors and geneticists. http://www.kumc.edu/gec/support/digeorge.html

DiGeorge syndrome 22q11 deletion syndrome 22q11 Deletion , GeneClinics DiGeorge Syndrome , NIH, NCBI DiGeorge Syndrome , National Institutes of Health, National Library of Medicine DiGeorge Syndrome , Online Mendelian Inheritance in Man (OMIM) Faces of Sunshine 22q and You Center , Book, $10.00 US checks or money orders to "Clinical Genetics, Education Fund #27087-275760000 ( not purchase orders or credit card payment), c/o Melissa Tonnesen, MS, The Children’s Hospital of Philadelphia, The 22q and You Center, Main Building, Room 2150, 34th Street and Civic Center Blvd., Philadelphia, PA 19104, e-mail: tonnesen@email.chop.edu History of the 22q11.2 Deletion , DM McDonald-McGinn and EH Zackai Medical needs of children with the 22q11.2 deletion , 22q and You, Children's Hospital of Philadelphia International resouces The 22q11 Group DiGeorge syndrome sites francophones Generation 22 Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members CHARGE association Chromosome 22 Velo-cardio-facial syndrome ... Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc.

3. DiGeorge Syndrome digeorge syndrome information and inks to national and international support groups, clinics with genetic counselors and geneticists http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Velo-Cardio-Facial Syndrome chromosome 22q11.2 deletion, Shprintzen syndrome, digeorge syndrome). VeloCardio-Facial Syndrome (VCFS) Educational Foundation, Inc. (also, http://www.kumc.edu/gec/support/velo.html

Velo-Cardio-Facial Syndrome (22q deletion, chromosome 22q11.2 deletion, Shprintzen syndrome, DiGeorge syndrome) Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. (also, spanish List of over 175 findings reported with 22qdel international groups Also See: National organizations with information on genetic conditions or birth defects 22q11 Deletion , GeneClinics DiGeorge Syndrome CHARGE syndrome 22q and you newslette r , Children's Hospital of Philadelphia Faces of Sunshine , 22q and You Center, Book, $10.00 US checks or money orders to "Clinical Genetics, Education Fund #27087-275760000 ( not purchase orders or credit card payment), c/o Melissa Tonnesen, MS, The Children’s Hospital of Philadelphia, The 22q and You Center, Main Building, Room 2150, 34th Street and Civic Center Blvd., Philadelphia, PA 19104, e-mail: tonnesen@email.chop.edu DiGeorge Syndrome , NIH, NCBI DiGeorge Anomaly , PEDBASE DiGeorge Syndrome , National Institutes of Health, National Library of Medicine DiGeorge Syndrome , Online Mendelian Inheritance in Man (OMIM) History of the 22q11.2 Deletion

5. DiGeorge Syndrome (DGS) digeorge syndrome, the synonyms, a summary and list of major features. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. DiGeorge Syndrome Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov/disease/DGS.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View DGS region on chromosome 22 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Information and support for DiGeorge syndrome GeneClinics a medical genetics resource 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.

7. CHROMOSOME 22 CENTRAL Support group for families who have children with any chromosome 22 disorder, including trisomies, cat eye syndrome, translocations, deletions 22q11, 22q13, VCFS, digeorge syndrome, rings and unique malformations. http://www.nt.net/~a815/chr22.htm

SUPPORT FOR CHROMOSOME 22 RELATED DISORDERS Click here for an online membership form to JOIN US! Registered members receive our newsletter and can choose to be listed in our parent registry. Also, join our discussion list What would you like to do? I want to learn about chromosome 22 disorders I want to find out about current news I want to learn about current research I want to connect with other families ... on other genetic disorders I want to return to the main index We are proud members of the Genetic Alliance. Volunteers, professional input and donations are welcomed GREAT GIFT IDEA: Order C22C Italian Charms! Promote awareness of our group! Charms are $10.00 each Canadian plus $1.00 shipping within Canada, $2.00 shipping to the USA, $5.00 SHIPPING INTERNATIONALLY BEFORE SEPTEMBER 19th 2005 (Note, Canada Post will be charging small packet rates after September 19th even on letter size packages outside of Canada if the packets contain anything besides paper!) Chromosome 22 Central’s Family Gala Massachusetts 2005 Dates: September 2 nd to September 4 th Where: North Shore (Salem/Peabody/Danvers area), Massachusetts

8. DiGeorge Syndrome / Family Village Library digeorge syndrome See also VeloCardio-Facial Syndrome and Craniofacial Disorders http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. OMIM - DIGEORGE SYNDROME; DGS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400

10. MaxAppeal A British charity that supports children, families and the medical community concerning digeorge syndrome, also known as velocardial facial syndrome (VCFS) and 22q11 syndrome. Find events, news, info sheets, and a newsletter. http://www.maxappeal.org.uk

11. Velo-Cardio-Facial Educational Foundation VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. What Is DiGeorge Syndrome? digeorge syndrome identified as a chromosomal microdeletion. This syndrome is typified by conotruncal congenital heart disease, facial abnormalities and http://nvnv.essortment.com/digeorgesyndrom_ruuh.htm

What is DiGeorge syndrome? DiGeorge syndrome identified as a chromosomal microdeletion. This syndrome is typified by conotruncal congenital heart disease, facial abnormalities and endocrine and immune disorders. What is DiGeorge Syndrome? DiGeorge syndrome is characterized by a few specific cardiac malformations, a sub-set of facial attributes, and certain endocrine and immune anomalies. The cause of DiGeorge syndrome has been identified as a submicroscopic deletion of chromosome 22 in the DiGeorge chromosomal region. It is classified along with velo-cardio-facial syndrome (Shprintzen syndrome) and conotruncal anomaly face syndrome as a 22q11 microdeletion and is sometimes referred to by the simple name 22q11 syndrome. People with DiGeorge syndrome may have the following congenital heart lesions: tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, aberrant left subclavian artery, right infundibular stenosis, or ventricular septal defect. 74% of patients with 22q11 syndrome have conotruncal malformations. 69% of patients are found to have palatal abnormalities including velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate. Some of the facial characteristics of DiGeorge syndrome are bifid uvula, high-arched palate, small mouth and wide set eyes, down-slanting eyes, hooded eyes, long face, malar flatness, cupped low set ears, bulbous nasal tip, and a dimpled or bifurcated nasal tip. Not all people with a 22q11 microdeletion display all, or indeed, any, of these characteristics.

13. DiGeorge Syndrome An article about digeorge syndrome with a description, causes, research and treatment. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.

14. IMMUNE DEFICIENCY FOUNDATION National, nonprofit organization to improve the diagnosis and treatment of patients with primary immunodeficiency diseases through research and http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. EMedicine - DiGeorge Syndrome : Article By Sridhar Guduri, MD digeorge syndrome Conditions associated with digeorge syndrome are 22q11 deletion syndromes, velocardiofacial syndrome (VCFS or Shprintzen syndrome), http://www.emedicine.com/med/topic567.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Allergy And Immunology DiGeorge Syndrome Last Updated: May 28, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: DiGeorge anomaly, DGA, thymic hypoplasia, thymic aplasia, third and fourth pouch syndrome, third and fourth arch syndrome, cellular immunodeficiency, hypoparathyroidism, 22q11 deletion syndromes, velocardiofacial syndrome, VCFS, Shprintzen syndrome, conotruncal anomaly face syndrome, Caylor syndrome, Opitz-GBBB syndrome, CHARGE syndrome, coloboma, heart anomalies, atresia of choanae, retardation, genital hypoplasia, ear anomalies, hypocalcemia, fetal alcohol syndrome, FAS AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Sridhar Guduri, MD

16. BBC - Health - Ask The Doctor - Fallot's Tetralogy known as conotruncal abnormalities), and in some children a particular genetic problem can be identified (e.g. digeorge syndrome). http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. EMedicine - DiGeorge Syndrome : Article By Suguru Imaeda, MD digeorge syndrome DiGeorge anomaly is one of a group of disorders that share a chromosome deletion resulting in monosomy 22q11. http://www.emedicine.com/derm/topic716.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases DiGeorge Syndrome Last Updated: June 11, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: congenital thymic aplasia, third and fourth branchial pouch syndrome, CATCH-22 syndrome, DiGeorge anomaly and velocardiofacial syndrome, conotruncal anomaly face syndrome, monosomy 22q11, severe combined immunodeficiency, severe combined immune deficiency, SCID AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Suguru Imaeda, MD , Chief of Health Services Dermatology, Clinical Associate Professor, Department of Dermatology, Yale University School of Medicine Suguru Imaeda, MD, is a member of the following medical societies: American Academy of Dermatology American Medical Association Connecticut State Medical Society Sigma Xi , and Society for Investigative Dermatology Editor(s): Mark A Crowe, MD

18. HIRA, A DiGeorge Syndrome Candidate Gene, Is Required For Cardiac HIRA, a digeorge syndrome Candidate Gene, Is Required for Cardiac Outflow Tract Septation Michael J. Farrell , Harriett Stadt http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. DiGeorge Syndrome / Family Village Library Learn More About It * Web Sites * Search Google for digeorge syndrome digeorge syndrome From Online Mendelian Inheritance in Man (OMIM) http://www.familyvillage.wisc.edu/lib_dig.htm

DiGeorge Syndrome See also: Velo-Cardio-Facial Syndrome and Craniofacial Disorders Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "DiGeorge Syndrome" Where to Go to Chat with Others This is an 'International Rare Disease Support Network' eGroup open to anyone interested in making friends, sharing information and providing support for persons affected by 'DiGeorge Syndrome.' VCFS/DiGeorgeSyndrome and YOU This is a site for families dealing with adults and adolescence living with VCFS/DiGeorge We are also here to support those with little ones too. Learn More About It DiGeorge Anomaly From PEDBASE DiGeorge Syndrome From the Jeffrey Modell Foundation DiGeorge Syndrome From Online Mendelian Inheritance in Man (OMIM) What is DiGeorge syndrome? DiGeorge Syndrome Region Cloned From Human Genome News Web Sites Back to [ C - D Family Village Home Library Coffee Shop ... Information Last Updated 1/5/2004 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_dig.htm

20. Chromosome 22 Central Support group for families who have children with any chromosome 22 disorder, including trisomies, cat eye syndrome, translocations, deletions 22q11 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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