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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

Korsakoff Syndrome -- Encyclopædia Britannica
Information on shprintzen syndrome, caused by deletion of a segment in chromosome22, and its characteristicscleft palate, heart defects,
http://www.britannica.com/eb/article?tocId=9046092
Syndrome Group To Meet At Stanford
The syndrome, also known as shprintzen syndrome and DiGeorge syndrome, is agenetic disorder that can lead to cleft palate, heart malformations,
http://news-service.stanford.edu/news/1997/june4/syndrome.html

Extractions: 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
Other Syndromes/disorders Associated With Learning Disabilities
VeloCardio-Facial Syndrome, Di George Syndrome or shprintzen syndrome is agenetic disorder involving a deletion of part of chromosome 22.
http://www.learningdisabilities.org.uk/page.cfm?pagecode=ISCSOS
University Of Cincinnati College Of Nursing
Velocardiofacial syndrome, also known as shprintzen syndrome, is one of the mostcommon genetic disorders in humans. This web site is devoted to providing
http://con.uc.edu/CATER/WebResources/GeneticsDysmorphology.htm

Extractions: "National Association for Down Syndrome (NADS), a not-for-profit organization, was founded in Chicago in 1961 by parents of children with Down syndrome who felt a need to create a better environment and bring about understanding and acceptance of people with Down syndrome." This site includes information about Down Syndrome, current news, resources available, medical and scientific options available, and a discussion board to share thoughts and feelings related to Down Syndrome. National Down Syndrome Society, (NDSS) The National Down Syndrome Society was established "to increase public awareness about Down syndrome; to assist families in addressing the needs of children born with this genetic condition; and to sponsor and encourage scientific research". This web site supplies links to such areas as research, affiliates, special programs, referral services, advocacy, news and donations. Trisomy 21 Foundation The Trisomy 21 Foundation was formed by a small group of parents of children with Down Syndrome. "The Foundation has been organized to fund results-oriented research that will have a practical and applicable benefit for infants, children and adults with Down Syndrome". In addition, this site provides the truths and myths of Trisomy 21, new research, membership information, E-Mail, and memorial gifts to the foundation.
Congenital, Hereditary, And Neonatal Diseases And Abnormalities
VeloCardio-Facial / shprintzen / syndrome Links - Family Village/Wisconsin (US).Velo-Cardio-Facial syndrome Educational Foundation , Inc.
http://www.mic.ki.se/Diseases/c16.html

Extractions: 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 -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com
Chromosomal Conditions
22q deletion (velocardio-facial syndrome, shprintzen, DiGeorge syndrome);Velo-Cardio-Facial syndrome, 22q deletion, chromosome 22q11.2 deletion,
http://www.kumc.edu/gec/support/chromoso.html

Extractions: Down syndrome, trisomy 18, trisomy 13, 11q, trisomy 9, 4p-, cri-du-chat, deletions , inversions, duplications, translocations, ring, sex-chromosome anomalies, mosaicism , fragile-x syndrome, other trisomy, variations, cancer cytogenetics , other cytogenetic resources Chromosome Deletion Outreach P.O. Box 724, Boca Raton, FL 33429-0724 Phone: 888.236.6880 (toll free) E-mail: info@chromodisorder.org Web site: www.chromodisorder.org/ UNIQUE: Rare Chromosome Disorder Support Group P.O.Box 2189, Caterham Surrey CR3 5GN England Little Yellow Book: Guide to Rare Chromosome Disorders (.pdf file) Chromosome Mosaicism Caring, Inc. PO Box 400, Milton, WA 98354 Phone: 206.922.8607 Trisomy Online , family site Trisomy Net Ring family sites about Trisomy and related information Chromosome Rearrangements Discovered Through Prenatal Diagnosis , booklet for families about unusual chromosome abnormalities detected by prenatal diagnosis. Inversions, translocations and markers. Also in
CCDD: Family: Education: Descriptions Of Disorders
shprintzenGoldberg syndrome shprintzen-Goldberg syndrome is one of a group ofdisorders characterized by craniosynostosis (premature fusion of skull
http://www.hopkinsmedicine.org/craniofacial/Education/Disorders.cfm?Source=Famil
Journal Of Pediatric Orthopaedics - UserLogin
Velocardiofacial syndrome (VCFS, shprintzen s syndrome) is a clinical diagnosisbased The orthopaedic findings in shprintzen s syndrome, as well as the
http://www.pedorthopaedics.com/pt/re/jpedortho/fulltext.00004694-199909000-00010
Digeorge Syndrome | Children | Patient Education
The history of the syndrome, previously referred to as DiGeorge, includes the Dr. shprintzen named this group of features velocardio-facial syndrome,
http://www.cooperhealth.org/heart/greystone/children/digeorge.htm

Extractions: You are in Patient Education Heart Conditions in Children The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:
22q11 Deletion Syndrome - Children's Memorial Hospital (Chicago, IL)
Related health topics/conditions DiGeorge syndrome (also known as shprintzen,velocardiofacial and 22q11.2 deletion syndrome) Genetics
http://www.childrensmemorial.org/depts/genetics/22q11.asp

Extractions: @import "/styles/colorBlue.css"; @import "/styles/master.css"; Skip to main content Find a doctor Employment Store ... Links A genetic disorder characterized by the partial deletion of chromosome 22, 22q11 deletion syndrome is a variable, multisystem disorder. Found in about 1 of every 3,000 children, it is also known as 22q11, velo-cardio-facial syndrome (VCFS), DiGeorge syndrome, or Shprintzen syndrome. Complications from 22q11 manifest themselves differently from child to child those affected may experience a few or many symptoms. These include cardiovascular disease, cleft palate, immune deficiencies and velopharyngeal incompetence (incomplete palate closure behind the nose) resulting in speech-language and/or swallowing difficulties. Children with 22q11 can also have characteristic facial features, kidney abnormalities, developmental delay, and psychological and behavioral complications. Because of its multiple and varying effects, 22q11 can be difficult to diagnose. Clinical suspicion is often confirmed through genetic testing by FISH (fluorescence in situ hybridization) on a blood sample. What causes it?
Allergy & Asthma : What Is DiGeorge Syndrome? - New Hanover
Allergy Asthma What is DiGeorge syndrome? Dr. shprintzen named this groupof features velocardio-facial syndrome, but the syndrome was also
http://www.nhhn.org/13041.cfm

Extractions: The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:
Mutation In Fibrillin-1 And The Marfanoid-craniosynostosis (Shprintzen-Goldberg)
shprintzen, RJ Goldberg, RB A recurrent pattern syndrome of craniosynostosisassociated with arachnodactyly and abdominal hernias.
http://www.nature.com/ng/journal/v12/n2/abs/ng0296-209.html

Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/ng0296-209 Sumesh Sood , Zayz A. Eldadah , Wilma L. Krause , Iain Mclntosh Department of Medical Genetics, Scottish Rite Children's Medical Center, Atlanta, Georgia 30342, USA. Medical Genetics Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA. Correspondence should be addressed to H.C.D. Recent reports have described a distinct and recurrent pattern of systemic malformation that associates craniosynostosis and neurodevelop-mental abnormalities with many clinical features of the Marfan syndrome (MFS) , an autosomal dominant disorder of the extracellular microfibril caused by defects in the gene encoding fibrillin-1, (ref. 8). Additional common findings include other craniofacial anomalies, hypotonia, obstructive apnea, foot deformity, and congenital weakness of the abdominal wall. So far, only 11 cases have been reported
Health Report - 28/10/2002: Velo Cardio Facial Syndrome - VCFS
Robert shprintzen The major pattern of abnormality in the syndrome is congenitalheart We had never heard of Velo Cardio Facial syndrome, or shprintzen
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.
Di George/Velocardiofacial Syndrome - FISH Analysis
Velocardiofacial (shprintzen) syndrome often presents with overt or submucouscleft palate, conotruncal defects, hypotonia, dysmorphic facies,
http://www.bcmgeneticlabs.org/tests/cyto/digeorgevelocardiofacial.html

Extractions: FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)-based assays for identifying the deletions of 22q associated with DiGeorge syndrome, velocardiofacial syndrome (VCFS), Shprintzen syndrome and isolated conotruncal cardiac defects, and deletions on 10p associated with the DiGeorge Syndrome II locus. The laboratory tests for both critical regions (10p13p14 and 22q11.2) using a dual-probe FISH assay. Clinical Features: The phenotypic features of DiGeorge syndrome consist of thymic aplasia or hypoplasia, hypocalcemia and conotruncal cardiac defects. Many patients die of cardiac complications or infections due to poor immunity. Velocardiofacial (Shprintzen) syndrome often presents with overt or submucous cleft palate, conotruncal defects, hypotonia, dysmorphic facies, developmental delay, small stature and velopharyngeal incompetence. Because of significant overlap of both syndromes, some clinicians refer to this syndrome as 22q11 deletion syndrome. There is significant inter- and intrafamilial clinical variability due to deletion of 22q11. A second deletion of 10p13p14 (DiGeorge Syndrome II) has been associated with similar clinical features.
JUM -- Sign In Page
shprintzenGoldberg syndrome is a rare and lethal association of craniosynostosiswith shprintzen RJ, Goldberg RB. A recurrent pattern syndrome of
http://www.jultrasoundmed.org/cgi/content/full/24/5/703

Extractions: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Pauliks, L. B. Articles by Valdes-Cruz, L. M. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 Pay for Admission - You may access all content in Journal of Ultrasound in Medicine Online (from the computer you are currently using) for 30 days for US$25.00.
JUM -- Sign In Page
http://www.jultrasoundmed.org/cgi/reprint/24/5/703

Extractions: This Article Full Text (HTML) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Pauliks, L. B. Articles by Valdes-Cruz, L. M. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 Pay for Admission - You may access all content in Journal of Ultrasound in Medicine Online (from the computer you are currently using) for 30 days for US$25.00.
Velo-Cardio-Facial Syndrome / The Family Village / Library
A Place to Chat about VCFS/DiGeorge syndrome. VCFS The VeloCardio-Facial syndromeand DiGeorge syndrome List c22c For families and professionals,
http://www.familyvillage.wisc.edu/lib_vcfs.htm

Extractions: 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.
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What Is DiGeorge Syndrome?
DiGeorge syndrome identified as a chromosomal microdeletion. This syndrome istypified by conotruncal congenital heart disease, facial abnormalities and
http://nvnv.essortment.com/digeorgesyndrom_ruuh.htm

Extractions: What is DiGeorge syndrome? DiGeorge syndrome identified as a chromosomal microdeletion. This syndrome is typified by conotruncal congenital heart disease, facial abnormalities and endocrine and immune disorders. What is DiGeorge Syndrome? DiGeorge syndrome is characterized by a few specific cardiac malformations, a sub-set of facial attributes, and certain endocrine and immune anomalies. The cause of DiGeorge syndrome has been identified as a submicroscopic deletion of chromosome 22 in the DiGeorge chromosomal region. It is classified along with velo-cardio-facial syndrome (Shprintzen syndrome) and conotruncal anomaly face syndrome as a 22q11 microdeletion and is sometimes referred to by the simple name 22q11 syndrome. People with DiGeorge syndrome may have the following congenital heart lesions: tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, aberrant left subclavian artery, right infundibular stenosis, or ventricular septal defect. 74% of patients with 22q11 syndrome have conotruncal malformations. 69% of patients are found to have palatal abnormalities including velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate. Some of the facial characteristics of DiGeorge syndrome are bifid uvula, high-arched palate, small mouth and wide set eyes, down-slanting eyes, hooded eyes, long face, malar flatness, cupped low set ears, bulbous nasal tip, and a dimpled or bifurcated nasal tip. Not all people with a 22q11 microdeletion display all, or indeed, any, of these characteristics.

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