41. Velocardiofacial Syndrome Parent's Sourcebook on VELOCARDIOFACIAL SYNDROME (Conotruncal Anomaly Unusual FaceSyndrome; Craniofacial syndrome ; DiGeorge syndrome; shprintzen syndrome). http://www.icongrouponline.com/health/Velocardiofacial_Syndrome.html

ICON Health Publications Official Health Sourcebooks The Official Parent's Sourcebook on VELOCARDIOFACIAL SYNDROME (Conotruncal Anomaly Unusual Face Syndrome; Craniofacial syndrome ; DiGeorge syndrome; Shprintzen syndrome) Revised and Updated for the Internet Age Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $24.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on velocardiofacial syndrome. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Conotruncal Anomaly Unusual Face Syndrome; Craniofacial syndrome ; DiGeorge syndrome; Shprintzen syndrome Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Velocardiofacial Syndrome: Guidelines Overview What Is Velocardiofacial Syndrome?

42. MGZ Munich --- DiGeorge Syndrome Genetics The DiGeorge Syndrome as well as VCFS (VCFS or shprintzen syndrome) arecaused by a deletion in the long arm of chromosome 22 (22q11.2), that leads to http://www.mgz-muenchen.de/english/digeorge.html

MGZ - Munich - Analyses About us Analyses Who is who Contacts ... Address DiGeorge syndrome Clinical Features The severity of the clinical picture in DiGeorge syndrome is very variable. The full clinical picture of the disease often has severe clinical symptoms (i.e. Heart defects, T-cell immune defects), although milder forms have been described. DiGeorge syndrome results from a developmental defect of the 4th and 5th pharyngeal pouches. From this various deformations of the affected organs can occur: Hypoplasia or aplasia of the Thymus with T-cell defects and immune weakness, Hypoplasia of the parathyroid with hypercalcaemia and cramps, heart failure (especially conotruncal defects), facial dysmorphia (widely speced eyes, short palpebral fissures cleft palate, wide bulbous nose, short philtrum, small pointed mouth, microretrogenia, deep seated dysmorphic ears, arrhinocephaly, renal aplasia and skeletal deformations. Genetics The DiGeorge Syndrome as well as VCFS (VCFS or Shprintzen Syndrome) are caused by a deletion in the long arm of chromosome 22 (22q11.2), that leads to a partial monosomy which can be demonstrated in approximately 90% of the patients. As with the other microdeletion syndromes isolated cases exist although families exist with several affected members. The inheritance pattern indicates dominant inheritance with variable degrees of expression. 15 - 20 % of affected individuals have inherited the deletion from an apparently healthy parent which shows that facial dysmorphia can be inherited.

43. Health Library - Velo-Cardio-Facial Syndrome 25 affiliated groups. Founded 1996.Support and resource network for familiescoping with velocardio-facial syndrome (aka shprintzen syndrome). http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29v

44. Rare Disease Support Community Syndrome Schmidt Syndrome Schwartz Jampel Syndrome Scleroderma Scoliosis SeckelSyndrome Sheehan Syndrome Short Syndrome shprintzen syndrome Shprintzen VCF http://www.angelfire.com/on2/egroups/S

S Saethre-Chotzen Syndrome Sandhoff Disease Sanfilippo Syndrome Scheie Syndrome ... RETURN HOME

45. Sydney Children's Hospital - Australian Doctor - Medical Articles Conditions that have now been characterised include Williams syndrome(7q microdeletion), and shprintzen syndrome (22q11 microdeletion). http://www.sch.edu.au/articles.asp?type=3&doc=43

46. Syndrome Notes for physicians on 22q11 Deletion Syndrome (shprintzen syndrome, DiGeorgeSyndrome (DGS), Velocardiofacial Syndrome (VCFS), Conotruncal Anomaly Face http://omni.ac.uk/browse/mesh/detail/C0039082L0039082.html

Syndrome [up] Related topics: broader Disease Alstrom Syndrome Support Group - UK Alstrom Syndrome is a very rare condition, with symptoms including childhood blindness, early hearing loss, diabetes, cardiomyopathy and kidney failure. The Alstrom Syndrome Support Group aims to alleviate suffering, and provide support for those with Alstrom Syndrome, and raise public awareness. This Web site provides information on what Alstrom Syndrome is, the clinical features, a newsletter and current research. A discussion list for anyone with an interest in this topic is also available, which aims to enable clinicians, carer and sufferers to share experiences. Charities Genetic Diseases, Inborn Syndrome GeneReviews : 22q11 deletion syndrome Notes for physicians on 22q11 Deletion Syndrome (Shprintzen Syndrome, DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Conotruncal Anomaly Face Syndrome (CTAF), Caylor Cardiofacial Syndrome, Opitz G/BBB) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during September 1999. This resource forms part of GeneReviews (formerly GeneClinics profile), an expert-authored, peer-reviewed medical knowledge base being developed at the University of Washington.This resource contains a summary and bibliographical references of the review, free access to the full-text version of the review requires brief registration. Chromosomes, Human, Pair 22

47. S Shock. Short Bowel Syndrome. shprintzen syndrome ( VelocardiofacialSyndrome ). Shwachman(Diamond) Syndrome ( Pancreatic Insufficiency). http://www.mashhadkit.com/iranmedicine/diseases-list/diseases-s-t.htm

S Salivary Gland Diseases Salmonella Infections Salpingitis Samters Syndrome ... Sexually Transmitted Diseases (, Bacterial) Sezary Syndrome Sheep and Goat Diseases Shingles Shock ... Spasms, Infantile (West Syndrome) Speech Disorders Spermatic Cord Torsion Spherocytosis, Hereditary Spina Bifida ... Stickler/Marshall Syndrome (not on MeSH) Stiff-Person Syndrome Still's Disease Stomatitis, Aphthous Strabismus ... Syringomyelia T Tachycardia Taeniasis Takayasu's Arteritis Tangier Disease ... Temporomandibular Joint Dysfuntion Syndrome (Musculoskeletal Diseases) Temporomandibular Joint Disorders (Stomatognathic Diseases) Tennis Elbow Tenosynovitis Teratoma Testicular Cancer ... Tick-Borne Diseases (Bacterial .. Infections) Tick-Borne Diseases (Parasitic Diseases) Tietze's Syndrome (Costochondritis) Tinea Tinea Pedis Tinea Versicolor Tinnitus ... Tyrosinemia

48. 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 Thalassaemia X-Linked Mental Retardation Alport syndrome Alstroms syndrome Amyotrophic Lateral Sclerosis Androgen Insensitivity Angelman syndrome Aniridia Ankylosing Spondylitis Apert syndrome Aspergers syndrome Ataxia -hereditary [back to top] -B- Baller-Gerold syndrome Bannayan-Riley-Ruvalcaba 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 Caffeys familial neurovisceral lipidosis Caffeys generalized gangliosidosis Caffeys Pseudo-Hurler syndrome

49. Velo-Cardial-Facial Syndrome The severity of the presentation varies widely among affected individuals. VCFS canalso be known as shprintzen syndrome, DiGeorge syndrome or 22q11 Deletion. http://dentistry.ucsf.edu/cranio/velocard.htm

What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a complex syndrome generally involving palatal defects, heart defects, learning disabilities and distinct facial features. It has been associated with over thirty different characteristics. The name comes from Latin: "velum" meaning palate, "cardia" meaning heart and "facies" meaning face. The severity of the presentation varies widely among affected individuals. VCFS can also be known as Shprintzen syndrome, DiGeorge syndrome or 22q11 Deletion. VCFS is autosomal dominant meaning that a parent with the syndrome has a 1 in 2 chance of passing it on to their child. How is velocardiofacial syndrome treated? Because VCFS can present differently in different children, it is important that a knowledgeable team of specialists evaluate a child so that nothing is overlooked. The child should be seen shortly after birth by the nurse from the Craniofacial Center to establish adequate feeding and breathing. Swallowing problems in infancy are common in this syndrome. Within the first two months of life, the child should be seen for a full team evaluation. Genetic testing is available for VCFS.

50. 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 will include: 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

51. SAIDA, Velo-Cardio-Facial Syndrome A definition of VeloCardio-Facial Syndrome along with a support group in Johannesburg.Category Health Conditions and Diseases Velo-Cardio-Facial Syndrome......VCFS, also known as shprintzen syndrome, and sometimes presenting as the Di GeorgeSequence, is caused by the deletion of a small segment of the long arm of http://sunsite.wits.ac.za/saida/disorder/vcfs.html

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 severly 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 recognised 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.

52. BBC Health - Conditions A-Z Close. Gaucher Disease Goldberg shprintzen syndrome Gorlin Syndrome. http://www.bbc.co.uk/health/genes/conditions/start.html?g

53. Fetal Syndromes BACK TO TOP OF PAGE shprintzen syndrome (Velocardiofacial Syndrome,Chromosome 22q11 Deletion Syndrome) Features/OMIM; Synopsis NIH; http://www.perinatology.com/ultrasound/syndromes.htm

perinatology.com Level II Ultrasound: Fetal Syndromes Return to Homepage Translate Site Map Agencies and Organizations Calculators Critical Care Exposures Chemicals Drugs Infection Physical Agent ... About us Ultrasound Menu Amniotic Band Syndrome Aase Syndrome Adams-Oliver Syndrome Baller-Gerold Syndrome Beckwith-Wiedemannn Syndrome Carpenter Syndrome Caudal Regression Syndrome Cerebro-costo-mandibular Syndrome Charge Association Cri Du Chat Syndrome De Lange Syndrome Down Syndrome (T21) Edward's Syndrome (T18) Ellis-Van Creveld Syndrome Fetal Alcohol Syndrome Freeman-Sheldon Syndrome Fryns Syndrome Goldenhar Syndrome Gorlin Syndrome Holt-Oram Syndrome IVIC Syndrome Jacobsen Syndrome Jarcho-Levin Syndrome Juberg-Hayward Syndrome Klippel-Feil Syndrome Syndrome Kniest Syndrome Levy-Hollister Syndrome Meckel-Gruber Syndrome Miller Syndrome Miller-Dieker Syndrome Moebius Sequence Multiple Pterygium Syndrome Nager Syndrome Neu-Laxova Syndrome Oto-palato-digital Syndrome Pallister-Hall Syndrome Patau Syndrome (T13) Pena-Shokeir Pentalogy of Cantrell Pfeiffer Syndrome Pierre Robin Syndrome Pillay Syndrome Poland Syndrome Proteus Syndrome Roberts Syndrome Rothmund-Thomson Syndrome Russel-Silver Syndrome Schnizel-Giedion Syndrome Seckel Syndrome Short-Rib-Polydactyl Syndrome Shprintzen Syndrome Smith-Lemli-Opitz Syndrome TAR Syndrome Trisomy 22 Ulnar-Mammary (Pallister) Syndrome VACTERL Association VATER Syndrome Walker-Warburg Syndrome Wolf-Hirschhorn Syndrome General: Dysmorphic Syndrome Features Source: Clinical Genetics and Fetal Medicine Unit, University of London

54. MUMS List Of Disorders - U - Z veinofgalen.co.uk; VeloCardio-Facial Syndrome (shprintzen syndrome)(40) **; Vena Cava Syndrome (Superior) (2); Venous Malformation http://www.netnet.net/mums/mum_u-z.htm

Return to MUMS Home Page MUMS: List of Disorders U - Z Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. UPJ Obstruction (4) Uhl Anomaly (Ventricular myocardium, aplasia of right) (1) Ulcerated Colitis (4)* Ulna Bone, absence, bilateral (arm bone) (3) * Ulna Bone, deficiency (arm bone) (4) * Undescended Testes (72) Undiagnosed (498) Unusual Facies Syndrome (5) Ureathra, Diverticulum (1) Ureter Reconstruction (5) Ureterostomy (5) Urethra Fistula (2) Urethra Valve Syndrome (6) Urethra, Diverticulum (1) Urogenital Sinus (2) Urorectal Septum Malformation Sequence (2) Urticaria Pigmentosa (9) Urticaria, Cold (1) Usher Syndrome Type II (1) * Uveitis (pars plantis -dots in vision) (3) * Uvulopalatopharyngoplasty (palate reconstruction) (2) VATER Syndrome or Vacterl Association (72) ** Vaccine Reaction to HIB Vaccine (6) * Vaccine Reaction to Measles Vaccine (9) * Vaccine Reaction to Pertussis (DPT) Vaccine (306) * Vaccine Reaction to Polio Vaccine (5) * Vaginal Cancer (2) * Vaginal Malformations (19) Vanishing Bile Duct Syndrome (1) Vanishing Twin Syndrome (5) Varicella-Zoster (Chickenpox), Fetal Effects (5)

55. MUMS List Of Disorders - S shprintzen syndrome (VeloCardio-Facial Syndrome) (43) **; Shpintzen-GoldbergSyndrome (Craniosynostosis-Arachnodactyly-Hernia) (2); http://www.netnet.net/mums/mum_s.htm

Return to MUMS Home Page MUMS: List of Disorders S Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. Sacral Agenesis (12) * Saethre-Chotzen Syndrome (2) Sagittal Synostosis (7)* Sandhoff Disease (1) Sandifer's Syndrome (8) Sanfilippo Syndrome, Mucopolysaccharidosis (24) * Sarcoglycanopathy (Muscular Dystrophy) (1) Sarcoidosis (1) Sarcoma, Ewing's (6) * Scheie Syndrome (4)* Scheuermanns Disease (1) Schilder's Disease (1) Schimke Immuno Osseosis Dysplasia (1) Schinzel-Giedeon Syndrome (3)* Schizencephaly (39) * Schizophrenia (23) * Schonlein-Henoch Purpura (10)* Schwachman Syndrome (13) *** Schwachman-Diamond Syndrome (13) *** www.shwachmandiamondamerica.org www.shwachman-diamond.org Schwartz-Jampel Syndrome (1) deceased Scimitar Sacrum (1) Scimitar Syndrome (8) www.scimitarsyndrome.freeservers.com Sclerocornea (2) Scleroderma (8)*** Scleroderma, Linear Form (1)* Scoliosis (219) * Scoliosis after heart surgery (1) Scoliosis, Infantile (5) Scoliosis, Kyphotis (18) Scrotum, Bifid (3)

56. Whitney's Page My Second Wonder Whitney was born with multiple congenital heart defects and was diagnosed with VeloCardio-FacialSyndrome (VCFS or shprintzen syndrome) when she was 6 years http://members.aol.com/valllerie/small.wonders/whitney.htm

WE HAVE MOVED PLEASE UPDATE YOUR BOOKMARKS My Second Wonder Whitney is 10 years old and just finishing up 4th grade. It was a good year. Whitney has a very positive attitude toward school. She loves every minute of it! Whitney is just starting up horseback riding lessons againher favorite thing in the world. This will be her 3rd year in the Pets program. Whitney had surgery on her sinuses last month. She did very well, I was a nervous wreck. Although she had a horrible black eye for a few weeks, she has not had another sinus infection. Whitney was born with multiple congenital heart defects and was diagnosed with Velo-Cardio-Facial Syndrome (VCFS or Shprintzen Syndrome) when she was 6 years old. Her heart was repaired when she was 14 months old at Georgetown University Hospital in Washington, DC.

57. 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 ?

58. 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?

59. Genetic, Metabolic And Mitochondrial Disorders Tuberous Sclerosis. Velocardiofacial Syndrome (VCF) (also called shprintzen syndrome,DiGeorge Sequence and, 22q11.2 deletion). Worster Drought Syndrome. Help! http://www.apraxia-kids.org/links/linksgenetic.html

Search Site Map Home Genetic, Metabolic and Mitochondrial Disorders This page includes links to information about genetic, metabolic or mitochondrial disorders which are known to affect the intelligibility of speech and/or speech development. Angelman Syndrome Comprehensive Speech and Language Treatment for Infants, Toddlers, and Children with Down Syndrome by Libby Kumin Ph.D. Ehlers-Danlos Syndrome Fragile X – Speech and Language Therapy Fragile X checklist of symptoms Glutaric Aciduria FAQ ... Klinefelter's syndrome (also XXY) How Does XXY Affect Children? Landau-Kleffner Syndrome Marinesco-Sjogren Syndrome Neurotransmitter Diseases Prader-Willi Syndrome ... Velocardiofacial Syndrome (VCF) (also called Shprintzen Syndrome, DiGeorge Sequence and, 22q11.2 deletion) Worster Drought Syndrome Help!

60. Genetic Disorders And Syndromes 22q11 Group information and support for Velo-Cardio-Facial Syndrome (VCFS) ,Di George Syndrome and shprintzen syndrome Aarskog Syndrome Support Group http://www.healthcentre.org.uk/hc/pages/inherited.htm

Genetic Disorders and Syndromes see also: inborn errors of metabolism national local international UK National Resources 22q11 Group - information and support for Velo-Cardio-Facial Syndrome (VCFS) , Di George Syndrome and Shprintzen Syndrome Aarskog Syndrome Support Group - information Alpha-1 Support - support for people suffering from alpha-1 antitrypsin deficiency Androgen Insensitivity Syndrome Support Group - information and support Annals of Human Genetics - journal British Society for Human Genetics - information about the society and its services Brittle Bone Society - help, advice and information to people affected by oteogenesis imperfecta BUBL Information Service - genetics resources, Bath University Children's Mitochondrial Disease Network Cri Du Chat Syndrome Support Group - information and links Cystic Fibrosis Medicine - educational web site for patients and medical professionals Cystic Fibrosis Resource Centre - information for cystic fibrosis patients, parents, doctors and other carers from Solvay Healthcare Cystic Fibrosis Trust - national charity dealing with cystic fibrosis Diagnostics - National electronic Library for Health Down's Syndrome Association - support parents and carers Down's Syndrome Research Foundation - parents helping parents to get research for their children DownsNet - information and links from the Down Syndrome Educational Trust - parents helping parents to get research for their children

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

Page 3     41-60 of 90    Back | 1  | 2  | 3  | 4  | 5  | Next 20