61. Health Report - 28/10/2002: Velo Cardio Facial Syndrome - VCFS We had never heard of Velo Cardio Facial Syndrome, or shprintzen syndrome, butthere was a palpable relief because at last we had something which we could http://www.abc.net.au/rn/talks/8.30/helthrpt/stories/s713387.htm

Health Matters All in the Mind The Buzz Earthbeat ... Quantum Velo Cardio Facial Syndrome - VCFS Broadcast Monday 28 October 2002 with Norman Swan Summary: VCFS is a common but mysterious genetic disorder. It's caused by the deletion of genetic material from the long arm of the chromosome 22 and is more common than Downs Syndrome. Transcript: Later this week in Queensland, a major international conference is taking place on a condition that many doctors may have never heard of. Yet it’s almost as common as Down’s syndrome. It’s just less obvious to the casual observer. Stephen Russell: The first time we thought there was something wrong with Amy was when she was a very young baby. Norman Swan: Stephen Russell is the parent of a child with this problem. Stephen Russell: She had difficulty feeding, she had nasal regurgitation of milk, whether taken from the breast or a bottle. The assistance we got was not tremendously helpful. We were treating her for reflux, which she didn’t have. It was indicative, as we later discovered, of the fact that she had a sub-mucous cleft palate and was unable to make a vacuum in her mouth cavity. Norman Swan: How long did it take to make that diagnosis?

62. Genetic Conditions List Schmid Type Metaphyseal Chondrodysplasia Schwachman syndrome Severe Immune DeficiencyShort Stature and Skeletal Dysplasia shprintzen syndrome Simpson Golabi http://www.agsa-geneticsupport.org.au/conditions_list.html

A-Z LIST OF CONDITIONS REPRESENTED BY AGSA A B C D ... P Q R S T U ... X Y Z -A- Aarskog syndrome Achondroplasia Acid Maltase Deficiency Acoustic Neuroma Acrocallosal syndrome Adams Oliver syndrome Adrenoleukodystrophy Aicardi syndrome Alagille syndrome Albinism Alkaptonuria Alpha l Antitrypsin Deficiency Alpha Manniosidosis Alpha Thalassaemia X-Linked Mental Retardation Alport syndrome Alstroms syndrome Amyotrophic Lateral Sclerosis Androgen Insensitivity Angelman syndrome Aniridia Anticardiolipin AB Type Antiphospholipid syndrome Ankylosing Spondylitis Apert syndrome Aspergers syndrome Ataxia -hereditary [back to top] -B- Baller-Gerold syndrome Bannayan-Riley-Ruvalcaba syndrome Baret-Biedl syndrome Bartter syndrome Batten Disease Beckwith-Wiedemann syndrome Behr syndrome Berardinelli syndrome Bilateral Iris Coloboma Bloom syndrome Blount's Disease Borjeson-Forssman-Lehmann syndrome BPES Brown syndrome [back to top] -C

63. Birth Mom Looking For Children, Girl 61/boy 62, Ilion, NY my side. shprintzen syndrome/Di George Syndrome. Tetralogy of Fallot myside. shprintzen syndrome/Di George Syndrome. Tetralogy of Fallot http://www.eboards4all.com/343402/messages/37.html

birth mom looking for children, girl 61/boy 62, Ilion, NY Follow Ups Post Followup NYAdoption FAQ Posted by Barbara J. Edwards Staffo on September 02, 2002 at 14:43:45: IP:198.81.26.134 Hello, I am looking for my two children born in the Ilion Memorial Hospital, Ilion, New York. A daughter named Starr Lee Edwards born in 1961 and a son named Timothy James Edwards born in the summer of 1962. At the time of both births I was living in Herkimer. Both children were given up at birth through the Herkimer Welfare Department. Just when or if they were adopted out is unknown to me. Timothy was hospitalized shortly after his birth with a hernia and I believe he had surgery. Stomach area. I want you to know that we have found out that there are genetic medical problems in the family on my side. Shprintzen Syndrome/Di George Syndrome. Tetralogy of Fallot (is a life threatening heart condition) which also causes serious lung problems. There are many other medical issues, like bipolar disorder,lack of or slow speech,poor muscle control of the arms and legs. The list seems endless of medical problems. I'm living in San Bernardino, California caring for my 6 year old grandson who suffers from the 2 syndromes.

64. Editorial 2. Smith DW. shprintzen syndrome (Velocardiofacial syndrome) In RecognizablePatterns of Human Malformations, 5th edn. Ed. Smith DW. http://www.indianpediatrics.net/march-315-319.htm

65. Syndrome Group To Meet At Stanford The syndrome, also known as shprintzen syndrome and DiGeorge syndrome, is a geneticdisorder that can lead to cleft palate, heart malformations, abnormal speech http://news-service.stanford.edu/news/1997/june4/syndrome.html

Issue of June 4, 1997 Syndrome group to meet at Stanford THE VELO-CARDIO-FACIAL SYNDROME Educational Foundation will hold its third annual meeting Friday, June 27, through Sunday, June 29, in Fairchild Auditorium. The syndrome, also known as Shprintzen syndrome and DiGeorge syndrome, is a genetic disorder that can lead to cleft palate, heart malformations, abnormal speech, learning disabilities, psychological problems and chronic childhood illnesses because of immune system dysfunction. Faculty from research institutions worldwide will present the latest findings on the syndrome and will address issues ranging from managing learning disabilities and feeding disorders to unraveling the genetic causes of the disorder. Opportunities for questions and discussions will be available. The meeting is open to anyone interested in velocardiofacial syndrome, including health care professionals, parents, researchers and patients. For information on the event, call Lucy Burke before Friday, June 20, at 365-8755 or e-mail andipat@ix.netcom.com

66. Syndromes And Conditions Associated With Learning Disabilities VeloCardio-Facial Syndrome, Di George Syndrome or shprintzen syndromeis a genetic disorder involving a deletion of part of chromosome 22. http://www.learningdisabilities.org.uk/page.cfm?pagecode=ISCSOS

67. 22q11 - The Syndrome Your child may have been diagnosed as having VelaCardio-Facial Syndrome, Di GeorgeSyndrome or shprintzen syndrome, depending upon where and by whom he/she http://www.vcfs.net/22q11/syndrome.htm

A Brief Overview of Some Affected Areas To view this page, you may use the links to visit each section, or merely scroll down the page reading them in order. Printing this page will print all the topics listed here, and can provide a useful reference for the future. To return here, click on any section heading. Palate Calcium Development Hearing/Ears ... INTRODUCTION This is a brief introduction into the way in which a deletion on the 22nd chromosome may affect your child. If you would like more detailed information, please contact the 22q11 Group. It has been written by parents and is based upon personal experience and research. What is a syndrome ? Your child may have been diagnosed as having Vela-Cardio-Facial Syndrome, Di George Syndrome or Shprintzen Syndrome, depending upon where and by whom he/she was diagnosed. In the case of all of the above diagnoses the cause is probably a genetic disorder involving a deletion of part of chromosome 22. In genetics the term syndrome means the association of multiple anomalies often present at birth which are caused by a single factor. In this case a deletion of the 22nd chromosome. How will my child be affected ?

68. VCFS Foundation (Qld) Inc - VCFS International Conference 2002 York in 1978 based on his observations of the common features of thesyndrome. This is why it is also known as shprintzen syndrome. http://www.vcfs.com.au/Conference2002.htm

VCFS Foundation (Qld) Inc. International Conference 2002 Guest speakers included: Dr Robert Shprintzen - Professor of Otolaryngology and Professor of Pediatrics, Upstate Medical University, Syracuse, New York. Velo Cardio Facial Syndrome was described by Dr Shprintzen in New York in 1978 based on his observations of the common features of the syndrome. This is why it is also known as Shprintzen Syndrome. Dr Karen Golding-Kushner - Assistant Professor of Speech-Language Pathology, Kean University, Union, New Jersey. Dr Stephan Eliez - VCFS: Are Structural Changes - The Temporal and Mesial Temporal Regions Related to Schizophrenia?, Eliez et al AMJ Psychiatry 158: 447-453. and Children and Adolescences with VCFS: A Volumetric MRI Study, Eliez et al AMJ Psychiatry 157: 407-415. He is a celebrated speaker at many International Conferences. Ms Bronwyn Glaser, B.A. - Dr Eliez's Research Assistant - Geneva School of Medicine, Geneva Switzerland. Ms Donna Landsman - Educator, Madison Wisconsin, USA

69. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/S Bowel Syndrome@ (24); shprintzen syndrome@ (5); Shwachman Syndrome@(7). ShyDrager Syndrome@ (3); Shyness@ (55); Sickle Cell Disease http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/S

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Conditions and Diseases S (0 links) SARS SIDS Salmonellosis San Joaquin Valley Fever ... Systemic Lupus Erythematosus News about S [ More news about S Books about S List Price: Amazon.com's Price: You Save: Prices subject to change. The Great Influenza: The Epic Story of the Deadliest Plague In History by: John M. Barry 05 February, 2004 List Price: Amazon.com's Price: You Save: Prices subject to change. How People Learn: Brain, Mind, Experience, and School: Expanded Edition by: John Bransford Ann L. Brown Rodney R. Cocking National Research Council (U.S.) Committee on Developments in the Scie ... National Research Council (U.S.) Committee on Learning Research and Ed 15 September, 2000 List Price: Amazon.com's Price:

70. SAIDA - Velo-Cardio-Facial Syndrome Support Group Of South Africa VeloCardio-Facial Syndrome (VCFS), also known as shprintzen syndrome, and sometimespresenting as the Di George Sequence, is caused by the deletion of a small http://sunsite.wits.ac.za/saida/disorders/velo_cardio_facial_society.htm

Velo-Cardio-Facial Syndrome (VCFS), also known as Shprintzen Syndrome, and sometimes presenting as the Di George Sequence, is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion). VCFS is characterised by heart abnormalities, palatal problems causing speech difficulties, hearing problems and learning difficulties. Children with VCFS have similar facial characteristics although these are not always noticeable. In addition, there can be immune system deficiencies and psychological problems. In fact, there are over 180 anomalies which can be caused by the deletion. However, none occur with a 100% frequency and some persons may be affected very mildly whilst at the other end of the spectrum others may be severely affected. More often than not, the problems relating to VCFS are dealt with in isolation. Yet for the successful intervention and handling of VCFS a team approach is essential. Thus there is a need for VCFS to be acknowledged and recognized amongst the medical fraternity, speech therapists, educators and parents. We will therefore be producing a handbook and leaflets in due course. Should you know of any families affected by the syndrome please feel free to direct them to us. We will be happy to provide further information on request.

71. Syndrome, Shprintzen - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZList syndrome, shprintzen. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=5668

72. Velocardiofacial Syndrome Information Diseases Database Velocardiofacial syndrome Velofacial hypoplasia shprintzen velocardio-facial syndrome, Disease Database Information 3 synonyms or equivalents were found. Velocardiofacial syndrome. aka/or aka/or. shprintzen velo-cardio-facial syndrome. may cause or feature + http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=31143

73. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Abnormalities Aicardi syndrome (not on MeSH) Facial/shprintzen/DiGeorge/ syndrome, CATCH22) from the Chromosome 22 Central - ( CA) DiGeorge syndrome (DGSI)/CATCH22 http://www.mic.ki.se/Diseases/c16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [P Murphy] GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

74. Shprintzen-Goldberg Syndrome Information Diseases Database shprintzenGoldberg syndrome Montefiore syndrome, Disease Database Information Sponsors Contact Previous Page. shprintzen-Goldberg syndrome Information. Send shprintzen-Goldberg syndrome http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=32155

75. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: skipnav, Home, , Search, , Browse, , Resources, , Help, , What sNew, , About, Browse By Condition Alphabetically S ShprintzenSyndrome. http://www.clinicaltrials.gov/ct/gui/screen/BrowseAny?path=/browse/by-condition/

76. SUNY Upstate Medical University: Department Of Otolaryngology And Communication VeloCardio-Facial Syndrom Center. Red Flags for shprintzen s syndrome. CongenitalHeart Abnormalities; Cleft Palate; Chronic Respiratory Problems; Hypocalcemia; http://www.upstate.edu/ent/redflags.shtml

Services Residency Program Craniomaxillofacial Fellowship Program ... Home ...Upstate Menu... Calendar Colleges: -Medicine -Graduate Studies -Nursing -Health Professions Contacting Upstate Departments E-mail Lookup Employment Library Search Page Telephone Lookup University Hospital Upstate Home Velo-Cardio-Facial Syndrom Center Red Flags for Shprintzen's Syndrome Congenital Heart Abnormalities Cleft Palate Chronic Respiratory Problems Hypocalcemia Failure to Thrive with Nasal Vomiting Learning Disabilities ADHD Small Hands and Feet Distinctive Facial Features: Retruded Lower Jaw Puffy Eyelids Prominent Nasal Bridge Overfolded Ears Psychiatric Problems such as Bipolar Affective Disorder Some Features Common to VCFS: Eyes: puffy lids and allergic "shiners" below eyes; ears: overfolded helix and attached lobule; nose: pear-shaped; hands: tapered fingers with short nail base. Return to the Velo-Cardio-Facial Syndrom page S U N Y Upstate Medical University Content maintained by: Kelvin Ringold Last Modified: October, 28, 2001

77. EMedicine - Velocardiofacial Syndrome : Article By Robert Ardinger, Jr, MD Synonyms and related keywords VCFS, DiGeorge sequence, shprintzensyndrome, shprintzen s syndrome, 22q11 deletion. http://www.emedicine.com/ped/topic2395.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Cardiology Velocardiofacial Syndrome Last Updated: June 20, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: VCFS, DiGeorge sequence, Shprintzen syndrome, Shprintzen's syndrome, 22q11 deletion AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert Ardinger, Jr, MD , Associate Professor, Department of Pediatrics, Division of Pediatric Cardiology, University of Kansas Medical Center Coauthor(s): Holly Ardinger, MD , Section Chief, Pediatric Genetics, Clinical Associate Professor, Department of Pediatrics, University of Kansas Medical Center Robert Ardinger, Jr, MD, is a member of the following medical societies: American Academy of Pediatrics , and American College of Cardiology Editor(s): Jeffrey Towbin, MD , Associate Chair of Pediatric/Cardiology, Professor, Departments of Pediatrics, Molecular and Human Genetics, Cardiovascular, Baylor College of Medicine and Texas Children's Hospital; Robert Konop, PharmD

78. EMedicine - Velocardiofacial Syndrome : Article Excerpt By: Robert Ardinger, Jr, Synonyms, Key Words, and Related Terms VCFS, DiGeorge sequence, shprintzensyndrome, shprintzen s syndrome, 22q11 deletion. Please http://www.emedicine.com/ped/byname/velocardiofacial-syndrome.htm

(advertisement) Excerpt from Velocardiofacial Syndrome Synonyms, Key Words, and Related Terms: VCFS, DiGeorge sequence, Shprintzen syndrome, Shprintzen's syndrome, 22q11 deletion Please click here to view the full topic text: Velocardiofacial Syndrome Background: Velocardiofacial syndrome (VCFS) is a genetic condition characterized by structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, developmental delay, and learning disabilities. Robert Shprintzen et al first described it in 1978. The cardiac defects usually are of the conotruncal type, in which embryonically derived defects occur secondary to abnormal development of the outflow portion of the developing heart. Defects in this grouping that occur with VCFS include truncus arteriosus, tetralogy of Fallot, pulmonary atresia with ventricular septal defect, absent pulmonary valve syndrome, and interrupted aortic arch type B. Ventricular septal defects, D-transposition of the great arteries, and aortic stenosis also may occur. Over 150 different clinical features are associated with VCFS, with no single anomaly present in every patient. Some abnormalities occur more commonly than others. About 10% of VCFS patients have the DiGeorge sequence, which consists of conotruncal cardiac anomaly, hypocalcemia, thymic aplasia, immune deficiency, and, sometimes, cleft palate. As many as 15-20% of patients have Robin sequence, which includes small jaw, cleft palate, and glossoptosis. Reports indicate that patients with VCFS may be mistakenly categorized as having the CHARGE syndrome (ie, coloboma, heart disease, atresia, choanae, retarded growth and retarded development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness). VCFS is a specific syndrome that includes as part of its phenotypic spectrum the DiGeorge sequence, Robin sequence, and disorders associated with CHARGE syndrome.

79. 772: Shprintzen-Goldberg Syndrome (SGS): Report Of 2 Affected Half Siblings. Program Nr 772 shprintzenGoldberg syndrome (SGS) Report of 2 affectedhalf siblings. A. Bogdanow 1 , P. Levy 1 , A. Shanske 1 http://www.faseb.org/genetics/ashg99/f772.htm

Program Nr: 772 Shprintzen-Goldberg syndrome (SGS): Report of 2 affected half siblings. A. Bogdanow , P. Levy , A. Shanske , R.J. Shprintzen , R. Marion 1) Ctr for Congenital Disorders, Montefiore Medical Ctr, Bronx, NY; 2) Communications Disorders Unit, Health Science Center at Syracuse, Syracuse, NY. First described by our group in 1982, SGS combines craniosynostosis, MR, characteristic facial features, and other skeletal and connective tissue defects. Although AD inheritance is supported by a mutation in FBN1 in at least one of the clinical subtypes of this disorder, SGS has occurred in 3 sibs born to unaffected, non-consanguineous parents (Ades et al., AJMG , 1995). This has raised the possibility of either AR inheritance or AD with germinal mosaicism in one of the parents. We describe affected half sibs, an observation supporting the latter hypothesis. Patient 1, the 3.86 kg product of an uncomplicated pregnancy born to a 20 yo primigravida, was admitted to the ICU at 6 weeks because of obstructive apnea (requiring tracheostomy) and FTT (necessitating a gastrostomy).. The infant had brachyturricephaly, ocular proptosis with downward obliquity and hypertelorism, low-set posteriorly rotated ears, high arched palate, pectus excavatum, and arachnodactyly of fingers and toes. A 3D CT scan revealed partial closure of the sagittal, lambdoidal and coronal sutures and ventriculomegaly. A diagnosis of SGS was made. Patient 2, his half sib, was the 3.64 kg product of his mother's second pregnancy. He had many of the same craniofacial and digital anomalies. In addition, he had malrotation of the intestines and an aberrant right subclavian artery. Examination of the mother and both fathers revealed no features of SGS or of a connective tissue dysplasia.

80. Shprintzen-Goldberg Syndrome Information Diseases Database shprintzenGoldberg syndrome aka/or Montefiore syndrome No UMLS definitions.Medical information linksshprintzen-Goldberg syndrome specific sites. http://www.diseasesdatabase.com/ddb32155.htm

Diseases Database Index Sponsors Contact ... Previous Page Shprintzen-Goldberg syndrome Information Search 2 synonyms or equivalents were found. Shprintzen-Goldberg syndrome aka/or Montefiore syndrome may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) No UMLS definitions Shprintzen-Goldberg syndrome: specific sites Send Shprintzen-Goldberg syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 03:37:03 Metadata Updated 2004-05-22

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