1. SUNY Upstate Medical University: Department Of Otolaryngology And Communication Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of velocardio-facial syndrome, SUNY Upstate Medical University (USA). http://www.upstate.edu/ent/velo.shtml

Services Residency Program Craniomaxillofacial Fellowship Program ... Upstate Home Velo-Cardio-Facial Syndrome: Center for Diagnosis Treatment and Study A child with a single serious health problem is a major challenge for any family. But the families who seek out University Hospital's Robert Shprintzen, Ph.D., grapple with dozens of serious health problems. Their children suffer from Velo-Cardio-Facial Syndrome (VCFS), and Dr. Shprintzen is the world's authority on this complexand perplexingand surprisingly common genetic disorder High Occurrences Commonly known as Shprintzen syndrome, VCFS is a genetic condition that impairs almost every bodily function and occurs as often as one in every 2000 births. According to Dr. Shprintzen, this little-known syndrome could be second in frequency only to Down's syndrome. A staggering array of 180 anomalies are associated with Shprintzen syndrome. The problems first appear in infancy, when a child may suffer from: congenital heart abnormalities cleft palate serious feeding problems breathing problems.

2. Velo-Cardio-Facial Educational Foundation Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact http://www.vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Inc. Thanks to all who attended and helped to make the 11th International Scientific Meeting of the VCFS Educational Foundation a GREAT success !!! More news to follow soon! Stay tuned for web updates. Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation , Inc. The Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of and not affiliated with any particular institution. VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings. Please see the VCFS Fact Sheet for details.

3. Velo-Cardio-Facial Educational Foundation Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information. http://vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Inc. Thanks to all who attended and helped to make the 11th International Scientific Meeting of the VCFS Educational Foundation a GREAT success !!! More news to follow soon! Stay tuned for web updates. Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation , Inc. The Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of and not affiliated with any particular institution. VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings. Please see the VCFS Fact Sheet for details.

4. Velo-Cardio-Facial Educational Foundation velocardio-facial syndrome Educational Foundation, Inc. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Velo-Cardio-Facial Syndrome velocardio-facial syndrome information, links to support groups, clinics, genetic counselors and geneticists http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Velo-Cardio-Facial Syndrome / The Family Village / Library velocardio-facial syndrome See Also DiGeorge Syndrome, Craniofacial Disorders http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Velo-Cardio-Facial Syndrome / The Family Village / Library VCFS The velocardio-facial syndrome and DiGeorge Syndrome List Velocardiofacial Syndrome From the National Institutes of Health http://www.familyvillage.wisc.edu/lib_vcfs.htm

Velo-Cardio-Facial Syndrome See Also: DiGeorge Syndrome Craniofacial Disorders Who to Contact Where to Go to Chat with Others ... Search Google for "Velo-Cardio-Facial Syndrome" Who to Contact Velo-Cardio-Facial Syndrome Educational Foundation, Inc. PO Box 874 Milltown, New Jersey 08850 info@vcfsef.org http://www.vcfsef.org/ The Velo-Cardio-Facial Syndrome Educational Foundation is an organization comprised of both professional and lay people whose purpose is to educate the public, the scientific community, families of individuals with Velo-Cardio-Facial syndrome, and individuals with Velo-Cardio-Facial syndrome (VCF) about this common genetic disorder. The Foundation acts as an advocate for both patients with VCF and the professional community treating this disorder, provides a forum for the advancement of knowledge relevant to the diagnosis and treatment of individuals with VCF, and provides a forum for discussion of the problems, treatments, or achievements associated with VCF and its management. The VCFS Educational Foundation consists of over 1300 lay and professional members worldwide. Annual dues are used to produce and distribute literature and educational information to the membership, including: a general information packet regarding VCFS, a periodic newsletter, the official Foundation web site, and such other information as determined by the board of directors and member council, as well as directly addressing queries regarding VCFS.

8. Velo-Cardio-Facial Syndrome (VCFS) velocardio-facial syndrome Center for Diagnosis Treatment and Study http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Velo-Cardio-Facial Syndrome velocardio-facial syndrome information, links to support groups, clinics, genetic counselors and geneticists. 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

10. VCFS velocardio-facial syndrome, di George Syndrome, Shprintzen Syndrome information and support. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Velo-Cardio-Facial Syndrome MOLECULAR ASPECTS OF THE velocardio-facial syndrome. In the molecular biology laboratories of Dr. Raju Kucherlapati, Dr. Arthur Skoultchi and Dr. Bernice http://www.kumc.edu/gec/support/vcfsres.html

Velo-Cardio-Facial Syndrome Research Institute Project Closed July 2002, research may continue under the Harvard Medical School IRB pending approval. Description of VCFS Research Project: MOLECULAR ASPECTS OF THE VELO-CARDIO-FACIAL SYNDROME In the molecular biology laboratories of Dr. Raju Kucherlapati, Dr. Arthur Skoultchi and Dr. Bernice Morrow at The Albert Einstein College of Medicine efforts to examine the molecular basis of a pair of related human genetic disorders: velo-cardio facial (VCFS) and DiGeorge (DGS) syndromes have been conducted for the past six years. Individuals affected by these disorders have several developmental defects including cardiac anomalies and psychiatric phenotypes. The individuals have a characteristic deletion of a part of human chromosome 22 and it is believed that the presence of a single copy of a gene(s) in this region (haploinsufficiency) causes the disorder. We are utilizing a combination of genetic and molecular biological approaches to identify the gene(s) responsible for these disorders. Rosalie Goldberg a genetic counselor at The Albert Einstein College of Medicine will be happy to answer your questions. Identification of genes for this disorder provides a unique opportunity to understand the molecular basis for the clinical findings of VCFS and DGS and to gain insight into normal human embryonic development. We have constructed a physical and genetic map of 22q11. By genotyping large numbers of VCFS/DGS patients with genetic markers that have been integrated within the physical map, we have been able to define their deletions. We have isolated several genes within the smallest region of deletion overlap, termed the critical region for VCFS/DGS. A major effort in the lab is to determine the pattern of expression of each gene during embryonic/fetal development as well as in adult tissues.

12. The DRM WebWatcher Velo-Cardio-Facial Syndrome A Disability Resources Monthly guide to the best online resources about velocardio-facial syndrome. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Chromosome 22 Central SYNDROME velocardio-facial syndrome, SHPRINTZEN SYNDROME DiGEORGE SYNDROME CATCH22, CONOTRUNCAL FACE ANOMALY (Cayler-Cardio-Facial http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. University Hospital:Otolaryngology & Communication Sciences: Their children suffer from velocardio-facial syndrome (VCFS), and Dr. Shprintzen is the world s authority on this complexand perplexingand surprisingly http://www.upstate.edu/uh/ent/velo.php

@import url(/uh/includes/menu.css); University Hospital Home Services Centers and Clinics Physicians ... University Hospital 750 East Adams Street Syracuse, NY TOLL FREE: State University of New York Upstate Medical University Velo-Cardio-Facial Syndrom: Center for Diagnosis Treatment and Study A child with a single serious health problem is a major challenge for any family. But the families who seek out University Hospital's Robert Shprintzen, Ph.D., grapple with dozens of serious health problems. Their children suffer from Velo-Cardio-Facial Syndrome (VCFS), and Dr. Shprintzen is the world's authority on this complexand perplexingand surprisingly common genetic disorder High Occurrances Commonly known as Shprintzen syndrome, VCFS is a genetic condition that impairs almost every bodily function and occurs as often as one in every 2000 births. According to Dr. Shprintzen, this little-known syndrome could be second in frequency only to Down's syndrome. A staggering array of 180 anomalies are associated with Shprintzen syndrome. The problems first appear in infancy, when a child may suffer from: congenital heart abnormalities cleft palate serious feeding problems breathing problems.

15. VCFS And DiGeorge Links! * velocardio-facial syndrome Great information pages by my friends David and Susan in Virginia! http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. VCFS This page is no longer supported. Please go to one of the other VCFS support pages such as www.vcfs.net, www.snonet.org/vcfs/ or www.vcfsef.org. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. VCFS What is velocardio-facial syndrome? Velocardiofacial Syndrome, also known as VCFS or as Shprintzen Syndrome, is the most common syndrome associated with http://www.faces-cranio.org/Disord/Velo.htm

The National Craniofacial Association P. O. Box 11082 * Chattanooga, TN 37401 Velo-cardio-facial Syndrome What is Velo-cardio-facial Syndrome? Velocardiofacial Syndrome, also known as VCFS or as Shprintzen Syndrome, is the most common syndrome associated with cleft palate. Approximately 1 in 2,000-5,000 children are born with VCFS. Characteristics include: a long face with a prominent upper jaw flattening of the cheeks an underdeveloped lower jaw a bluish color below the eyes a prominent nose with narrow nasal passages a long thin upper lip and a down-slanting mouth cleft palate or submucous cleft palate Why did this happen? Velocardiofacial Syndrome is an autosomal dominant condition. Genetic studies of children with this condition show that a microscopic segment on the long arm of chromosome 22 is missing. The genetic test for diagnosis of this condition is called "FISH analysis" and can be performed in many medical centers. It is not because of anything the mother did or did not do during the pregnancy. Will this happen to children I have in the future?

18. Full Spectrum Of Malformations In Velo-cardio-facial Full spectrum of malformations in velocardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage Jun Liao1 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Development And Neurobiology: Genetics Of Childhood Disorders: XXV. Velocardiofa Velocardiofacial syndrome (VCFS) is a genetic syndrome with a range of psychiatric symptoms. velocardio-facial syndrome Educational Foundation http://info.med.yale.edu/chldstdy/plomdevelop/genetics/01aprgen.htm

J Am Acad Child Adolesc Psychiatry,40:4,489-491 April 2001 Doron Gothelf, M.D., and Paul J. Lombroso, M.D Velocardiofacial syndrome (VCFS) is a genetic syndrome with a range of psychiatric symptoms. Identification of the gene(s) involved in its expression should lead to an improved understanding of both normal CNS development and how specific mutations contribute to psychiatric disorders. VCFS was first defined by Robert Shprintzen more than 20 years ago. Only in recent years, with the increased interest in molecular biology in psychiatry, has it received wider recognition. VCFS has an estimated prevalence of 1 in 4,000, making it the second most common genetic syndrome after Down syndrome. It is caused by a microdeletion in the long arm of chromosome 22. Several disorders, such as DiGeorge syndrome, some cases of Pierre-Rubin syndrome, and other rarer syndromes, are caused by a seemingly identical microdeletion. Identification of the gene(s) that are affected by the deletion will be required before it is known whether the same or different genes contribute to the expression of these disorders. Together with VCFS, they are collectively referred to as the 22q11 deletion syndromes (22qDS). Ninety percent of patients with 22qDS have a deletion of approximately 3 million base pairs, while 7% have smaller deletions of 1.5 million bases. Similar to other syndromes caused by a microdeletion, the molecular diagnosis of 22qDS is usually made by fluorescence in situ hybridization (FISH) (Ward et al., 1999). In FISH, a fluorescently labeled sequence of a few thousand nucleotides is constructed in the laboratory. This sequence is used as a probe that will bind to the complementary sequence of bases on chromosome 22. As there are two copies of each chromosome, two hybridization signals will appear on the FISH examination in the normal individual. In those cases in which a deletion is present, fluorescence will be detected on only one chromosome

20. Stanford Psychiatry Neuroimaging Laboratory: Velo-Cardio-Facial Syndrome velocardio-facial syndrome (VCFS) is a genetic, autosomal dominant condition defined by Shprintzen in 1978. Its frequency is estimated at 1 per 4000 live http://spnl.stanford.edu/disorders/vcfs.htm

What is Velo-Cardio-Facial Syndrome? Velo-Cardio-Facial syndrome (VCFS) is a genetic, autosomal dominant condition defined by Shprintzen in 1978. Its frequency is estimated at 1 per 4000 live births. In most patients, a deletion (Figure 2) on chromosome 22q11.2 (Figure 1a and 1b) is responsible for the syndrome. Most of these deletions occur spontaneously (are not inherited from parent to child). Figure 1a. Click on the chromosome 22 (circled in red) to magnify the chromosome and see the region involved in VCFS. A 4-year-old girl with Velo-Cardio-Facial syndrome The features of VCFS include cardiac malformations, cleft palate or velopharyngal insufficiency, a characteristic facial appearance, learning disabilities and more than 40 other physical anomalies (Goldberg et al., 1993, http://www.vcfsef.org/facts.html Studies indicate that nearly half of individuals with VCFS have mental retardation. Particular problems with abstract reasoning, language delay, mood regulation, monotonous voice, and difficulties in social interaction have been described (Golding-Kushner et al., 1985). A nasal speech tone is observed in the vast majority of individuals with VCFS as well as difficulties with articulation whose origin is assumed to be the cleft palate and pharyngal hypotonia. Some researchers have described frequent behavioral or psychiatric problems in individuals with VCFS. For example, Shprintzen et al. (1992) observed that 10 to 20% of over 100 patients developed psychotic symptoms (particularly schizophrenia) during adulthood. Papolos et al (1996) also observed a high rate (70-100%) of psychiatric symptoms in 20 children and adolescents. These symptoms were described as similar to those occurring in individuals with bipolar (manic-depressive) disorder.

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