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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

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

Extractions: (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?
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

Extractions: 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. 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.
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
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
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
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

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

Extractions: 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 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
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
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

Extractions: What is velocardiofacial syndrome? 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.
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

Extractions: 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
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 SyndromeVCFS, 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

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

Extractions: 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
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

Extractions: 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)
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

Extractions: 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)
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

Extractions: 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.
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

Extractions: To return here, click on any section heading. Palate Calcium Development Hearing/Ears ... 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. 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.
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

Extractions: 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 didnt 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.
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
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

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