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Shprintzen Syndrome:     more detail

Syndrome Identification for Speech-Language Pathology: An Illustrated Pocketguide by Robert J. Shprintzen, 2000-01-15 Syndrome Identification for Audiology: An Illustrated PocketGuide by Robert J. Shprintzen, 2001-02-02 Velo-Cardio-Facial Syndrome, Volume I (Genetic Syndromes and Communication Disorders) by Robert J. Shprintzen, Karen J. Golding-Kushner, 2008-07-01 Genetics, Syndromes and Communication Disorders by Robert J. Shprintzen, 1997-10-01 Shprintzen-Goldberg craniosynostosis syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Amy, MS, CGC Vance, 2005 Growth Velocity, Weight Gain & Growth Charts for Velo-Cardio-Facial Syndrome: Management of Feeding and Swallowing Problems by Robert J. Shprintzen, 2010-01-01 Velo-Cardio-Facial Syndrome Volume 2: Treatment of Communication Disorders by Karen J. Golding-Kushner, Robert J. Shprintzen, 2009-11-01 Genetics, Syndromes and Communication Disorders by Robert J. Shprintzen, Velo-cardio-facial syndrome. (DVD included) (Genetic syndromes and communication by Robert J. and Karen J. Golding-Kushner. Shprintzen,

lists with details

1. EPEC - Educating Parents Of Extra-special Children - Shprintzen Syndrome
   shprintzen syndrome. shprintzen syndrome. ShprintzenGoldberg Syndrome. RedFlags for shprintzen syndrome. Copyright © 2001-2002, EPEConline.com.  
   http://www.epeconline.com/Shprintzen.html

2. VCFS Educational Foundation, Inc Main Page
   VeloCardio-Facial. Syndrome. Educational Foundation, Incorporated. Site Updated May 7, 2004 VCFS also known as the shprintzen syndrome, DiGeorge Sequence and, regrettably, Catch  
   http://www.vcfsef.org/
   
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3. SUNY Upstate Medical University: Department Of Otolaryngology And Communication
   Commonly known as shprintzen syndrome, VCFS is a genetic condition that impairs almost every of 180 anomalies are associated with shprintzen syndrome. The problems first appear  
   http://www.upstate.edu/ent/velo.shtml
   
   Extractions: 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 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.

4. EPEC - Educating Parents Of Extra-special Children - Velocardiofacial Syndrome
   VCFS may also be known as shprintzen syndrome, DiGeorge syndrome, Craniofacialsyndrome or Conotruncal Anomaly Unusual Face Syndrome.  
   http://www.epeconline.com/Velocardiofacial.html
   
   Extractions: needs and parents with special needs children. What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems. Although VCFS is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, described 12 children with the disorder. Most or all of these first 12 children were born with a cleft palate, heart defects and similar faces. VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome. What causes velocardiofacial syndrome?

5. Shprintzen Syndrome - Medical Dictionary Definitions Of Popular Medical Terms
   MedicineNet Home MedTerms medical dictionary AZList shprintzen syndrome. Advanced Search.  
   http://www.medterms.com/script/main/art.asp?articlekey=5486

6. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies:
   and Abnormalities at or before Birth shprintzen syndrome Syndrome or Velocardiofacial Syndrome. Conditions DiGeorge Syndrome; shprintzen syndrome; Chromosome Abnormalities  
   http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

7. Bbc.co.uk - Health - Conditions A-Z Goldberg Shprintzen Syndrome
   A guide to Goldberg shprintzen syndrome, facts about the condition and whereto go for support. Goldberg shprintzen syndrome By Dr Trisha Macnair.  
   http://www.bbc.co.uk/health/conditions/goldberg.shtml
   
   Extractions: Goldberg Shprintzen Syndrome is an inherited condition caused by the deletion of a very small part of the DNA in the long arm of chromosome 22. It is also known as velocardiofacial syndrome or VCFS. There appear to be a whole spectrum of conditions resulting from mutations in this area of chromosome 22, ranging from deletions which cause no obvious health problems to severe disruption of normal development (for example in a condition known as DiGeorge syndrome). Over 180 different abnormalities have been described in the syndrome - each affected person will have some or many of these features but to varying degrees - some will be severely affected and others more mildly. A few people appear to be completely unaffected. Most common are behavioural features including learning disabilities, psychiatric illness in adolescents and adults (e.g. bipolar disorder, schizophrenia), attention deficit disorder, and a variety of other developmental disorders.

8. Shprintzen Syndrome
   Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M,N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, shprintzen syndrome,.Print this article,  
   http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/SHPRINTZEN SYNDR
   
   Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Shprintzen syndrome, (Robert J. Shprintzen, 20th century, American geneticist) (also called velocardiofacial syndrome), inherited group of disorders consisting of cleft palate , prominent nose, learning and behavioural disabilities and cardiovascular anomalies. The cardiovascular anomalies consist of ventricular septal defect tetralogy of Fallot and right aortic arch

9. Shprintzen Syndrome - Encyclopedia Article About Shprintzen Syndrome. Free Acces
   encyclopedia article about shprintzen syndrome. shprintzen syndrome in Free onlineEnglish dictionary, thesaurus and encyclopedia. shprintzen syndrome.  
   http://encyclopedia.thefreedictionary.com/Shprintzen syndrome
   
   Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition 22 q11 microdeletion syndrome is a birth defect A birth defect is a physical or mental abnormality present at the time a child is born. Birth defects range from minimal, such as birthmarks, and slightly mobility-impairing, such as amelia of the legs, to very serious, such as cerebral palsy, and incompatible with life, such as anencephaly. Many birth defects result from genetic abnormalities. Others can arise from chance problems in fetal development (teratogenesis), which are sometimes caused by prenatal vitamin deficiencies or exposure to mercury and other harmful substances. Click the link for more information. caused by a genetic The word " gene " is shared by many disciplines, including whole organism-based or classical genetics, molecular genetics, evolutionary biology and population genetics. It has multiple uses within each of these contexts, but in the primary sense, genes are material things that parents pass to offspring during reproduction; these things encode information essential for the construction and regulation of polypeptides, proteins and other molecules essential for the growth and functioning of the organism. This sense, which is common to all of the above disciplines, is also the original historical meaning of gene.

10. Velo-Cardio-Facial Syndrome
    Velocardio-facial syndrome (VCFS), also known as shprintzen syndrome, sometimespresenting as the DiGeorge sequence, is caused by a deletion of a small  
    http://www.vcfsef.org/facts.html
    
    Extractions: Velo-Cardio-Facial Syndrome Specialist Fact Sheet Velo-cardio-facial syndrome (VCFS) , also known as Shprintzen syndrome , sometimes presenting as the DiGeorge sequence , is caused by a deletion of a small segment of the long arm of chromosome 22. It is one of the most common genetic disorders in humans. The following list shows the anomalies which have been found in VCFS. No findings have a 100% frequency, but all occur with sufficient frequency to warrant assessment if suspected. If you have any questions, or if you would like to learn more about VCFS, you may reach The Velo-Cardio-Facial Syndrome Educational Foundation by telephone at , by fax at , or by email at vcfsef@hscsyr.edu

11. Velocardiofacial Syndrome
    this report. Synonyms shprintzen syndrome, VCF Type; VCF Syndrome.Disorder Subdivisions None. General Discussion Velocardiofacial  
    http://my.webmd.com/hw/health_guide_atoz/nord853.asp

12. Velo-Cardio-Facial Syndrome
    25 affiliated groups. Founded 1996. Support and resource network for familiescoping with velocardio-facial syndrome (aka shprintzen syndrome).  
    http://my.webmd.com/hw/health_guide_atoz/shc29vel.asp
    
    Extractions: The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

13. Velocardiofacial Syndrome
    Synonyms. shprintzen syndrome, VCF Type; VCF Syndrome. Disorder Subdivisions.None. Pp. 24551. VELO-CARDIO-FACIAL SYNDROME (shprintzen syndrome).  
    http://www.bchealthguide.org/kbase/nord/nord853.htm
    
    Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: The symptoms of Velocardiofacial Syndrome are: 1.Cleft palate - patients with Velocardiofacial Syndrome have a mild form of cleft palate. The lobe in the middle of the back of the soft palate (uvula) is split and there is a thin union of the two halves of the palate in the middle with a mucous covering on the rear portion of the mouth. The muscles under the soft palate do not fuse together and a notch can be felt where the hard and soft palates meet. This notch replaces the back spine of the palate. (For more information on this disorder choose "Cleft Lip and Cleft Palate" as your search term in the Rare Disease Database). 2. Abnormalities of the heart - the wall that separates the right and left chambers of the heart which receive blood and then force it back into the arteries (ventricular septal) does not form properly; there may be right aortic arch abnormalities; and a congenital abnormality in which there is obstruction in the outflow from the right ventricle of the heart to the lungs, with an enlarged right ventricle and a displaced aorta that receives blood from both the right and left ventricles (Tetralogy of Fallot). (For more information on this disorder choose "Tetralogy of Fallot" as your search term in the Rare Disease Database).

14. DiGeorge Syndrome
    information on this disorder, choose Hypoparathyroidism as your search term inthe Rare Disease Database.) shprintzen syndrome is a rare inherited disorder.  
    http://www.bchealthguide.org/kbase/nord/nord74.htm
    
    Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: 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.

15. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies:
    or Velocardiofacial Syndrome Conditions DiGeorge Syndrome; shprintzen syndrome;Chromosome Abnormalities; Abnormalities, Multiple; Conotruncal Cardiac Defects.  
    http://www.clinicaltrials.gov/ct/gui/screen/BrowseAny?path=/browse/by-condition/

16. Entrez PubMed
    A, Kushnick T. Eight patients (three sporadic, five from two families) with thevelocardio-facial syndrome (VCFS) or shprintzen syndrome are reported.  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

17. Entrez PubMed
    Goldbergshprintzen syndrome Hirschsprung disease, hypotonia, and ptosisin sibs. Yomo A, Taira T, Kondo I. Department of Pediatrics  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed

18. Velocardiofacial Syndrome - Quest Diagnostics Patient Health Library
    this report. Synonyms. shprintzen syndrome, VCF Type; VCF Syndrome.Disorder Subdivisions. None. General Discussion. Velocardiofacial  
    http://www.questdiagnostics.com/kbase/nord/nord853.htm

19. The DRM WebWatcher: Velo-Cardio-Facial Syndrome
    It is also called shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome,conotruncal anomaly unusual face syndrome, 22q11, and catch 22.  
    http://www.disabilityresources.org/VELO.html
    
    Extractions: Home Subjects States Librarians ... Contact Us The DRM WebWatcher Velo-Cardio-Facial Syndrome (Shprintzen Syndrome) Updated 3/30/2004 A B C D ... About/Hint/Link Velo-Cardio-Facial syndrome (VCFS) is a genetic disorder that has been associated with over thirty different features, including cleft palate, heart defects, characteristic facial appearance, minor learning problems, and speech and feeding problems. It is caused by a deletion of a small segment of chromosome 22. It is also called Shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome, conotruncal anomaly unusual face syndrome, 22q11, and catch 22. 22q and You Newsletter This quarterly publication of The Children's Hospital of Philadelphia also provides information about the history and medical needs of children with 22q.11 deletions. 22q11 Deletion Syndrome This GeneClinics page provides clinical information relating genetic testing to the diagnosis, management, and genetic counseling of individuals and families. Velo-Cardio-Facial Syndrome Though not recently updated, this website by the parents of a child with VCFS includes a useful selection of articles and abstracts, support groups, personal contacts, and more.

20. The DRM WebWatcher: Specific Disabilities (Index)
    Optic Dysplasia (SOD); Shaken Baby Syndrome; shprintzen syndrome (VeloCardio-FacialSyndrome); Sleep Disorders; Sotos Syndrome; Spasmodic  
    http://www.disabilityresources.org/SPECIFIC.html

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