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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

Shprintzen-Goldberg Syndrome: Case Report
433436. shprintzenGoldberg syndrome Case Report. Objective The shprintzen-Goldbergsyndrome is an extremely rare syndrome with a characteristic face.
http://cpcj.allenpress.com/cpcjonline/?request=get-abstract&doi=10.1597/1545-156
Congenital, Hereditary, And Neonatal Diseases And Abnormalities
KIB (SE). About Cat Eye syndrome OMIM. Velo-Cardio-Facial / shprintzen/ syndrome Links - Family Village/Wisconsin (US). Velo-Cardio
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 [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
References: Velo-cardio-facial Syndrome
BeemerFA,MeineckeP,SchinzelA,The velocardio-facial (shprintzen) syndromeclinical variability in eight patients Eur J Pediatr145539-544 (1986);
http://www.hgmp.mrc.ac.uk/lddb-bin/ref-look-up?1762
Abstract: Velo-cardio-facial Syndrome
Microdeletions of 22q11 have been seen in patients with DiGeorge syndrome, velocardio-facial(shprintzen) syndrome, isolated conotruncal cardiac defects and
http://www.hgmp.mrc.ac.uk/lddb-bin/ab-look-up?1762
NTvT - August 1998
FA Beemer, syndromeS 3 VELOCARDIO-FACIAL (VCF/shprintzen) syndrome. TOP OF PAGE. FABeemer, syndromes 3 The Velo-Cardio-Faciaal (VCF/shprintzen) syndrome.
http://www.ntvt.nl/entt08_98.htm

Extractions: Summary. The clinical symptomatology of the velo-cardio-facial (VCF/Shprintzen) syndrome is briefly described. In VCF syndrome a microdeletion of chromosome 22q11.2 can be found, as well as in a number of other clinical entities, leading to the conclusion that it is probably better to speak of the 22ql1.2 clinical spectrum. NTvT 1998;
GeneCards Disorder Information: Shprintzen-goldberg Syndrome
GeneCards Disorder Information shprintzengoldberg syndrome. Search differentdatabases containing disease information by clicking on the buttons below.
http://genecards.bcgsc.ca/cgi-bin/disodisp?Shprintzen-Goldberg syndrome
NEJM -- Sign In
It is a treat to read what Robert shprintzen has learned over the years from hispatients with shprintzen s syndrome and what Ann Smith has learned from her
http://content.nejm.org/cgi/content/full/345/6/472-a

Extractions: SIGN IN User Name Password Forgot your Password? Click here and we'll e-mail it to you. If you do not use cookies, sign in here. Remember my User Name and Password. PURCHASE THIS ARTICLE Purchase a single article and get immediate online access for just $10. If you're a subscriber but have not yet activated your full online access ACTIVATE YOUR SUBSCRIPTION Subscribers to NEJM are entitled to full access to all online content and features, including 20 FREE online CME exams. OR Receive full access to ALL current content and online features including Personal Archives, PDF article downloads, PDA access, E-mail alerts and 20 FREE online CME exams. OR Receive FREE online access to NEJM Original and Special Articles 6 months after publication and choose to receive the Table of Contents and notification of early release articles via e-mail.
Velo-Cardio-Facial Syndrome / The Family Village / Library
Library U V. Velo-Cardio-Facial syndrome. See Also DiGeorge syndrome, CraniofacialDisorders. Velocardiofacial syndrome From the National Institutes of Health.
http://www.familyvillage.wisc.edu/lib_vcfs.htm
DiGeorge Syndrome - Encyclopedia Article About DiGeorge Syndrome. Free Access, N
Conotruncal face anomaly; Craniofacial syndrome; DiGeorge syndrome; Shprintzensyndrome; Unusual face syndrome; Velocardiofacial syndrome (VCFS). .
http://encyclopedia.thefreedictionary.com/DiGeorge syndrome

Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition DiGeorge syndrome is a hereditary disease A genetic disorder , or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. There are a number of possible causes for genetic defects:
Chromosome 22, Microdeletion 22 Q11
Conotruncal face anomaly; Craniofacial syndrome; DiGeorge syndrome; Shprintzensyndrome; Unusual face syndrome; Velocardiofacial syndrome (VCFS).
http://www.fact-index.com/c/ch/chromosome_22__microdeletion_22_q11.html

Extractions: Main Page See live article Alphabetical index 22 q11 microdeletion syndrome is a birth defect caused by a genetic abnormality that occurs in approximately one in 700 births. Also variously nicknamed, or labelled according to symptomatic manifestations: Most commonly known as VCFS This is a partial list among a great variety of problems associated with VCFS. None of these features occur in 100% of cases. 1. Cardiac Manifestations 2. Facial Manifestations 3. Endocrine Manifestations 4. Immune Manifestations
GeneReviews: 22q11.2 Deletion Syndrome
Your browser does not support HTML frames so you must view 22q11.2 Deletion Syndromein a slightly less readable form. Please follow this link to do so.
http://www.geneclinics.org/profiles/22q11deletion/
Velo-Cardio-Facial Syndrome, Cincinnati Children's Hospital Medical Center
Return to Site. HeartRelated syndromes. Velocardiofacial syndrome (VCFS). Shprintzensyndrome, Craniofacial syndrome or Conotruncal Anomaly Face syndrome
http://www.cincinnatichildrens.org/health/heart-encyclopedia/disease/syndrome/vc
Velo-Cardio-Facial Syndrome, Cincinnati Children's Hospital Medical Center
HeartRelated syndromes. Velocardiofacial syndrome (VCFS). Shprintzensyndrome, Craniofacial syndrome or Conotruncal Anomaly Face syndrome
http://www.cincinnatichildrens.org/health/info/heart/diagnose/vcfs.htm

Extractions: Home Contact Us Site Map Go to Advanced Search ... Marfan Syndrome Velo-Cardio-Facial Syndrome VACTERL (VATER) Association Signs and Symptoms Cardiac-Related Diagnostic Methods Treatment Options ... Contact Us Shprintzen Syndrome, Craniofacial Syndrome or Conotruncal Anomaly Face Syndrome Explanation Causes How Common? Kinds of Problems ... Resources Velocardiofacial Syndrome might be referred to by other names including Shprintzen Syndrome, Craniofacial Syndrome, or Conotruncal Anomaly Face Syndrome. The name Shprintzen Syndrome comes from physician Dr. Robert Shprintzen of the Center for Craniofacial Disorders, who, in 1978, described a series of 12 children with a cleft palate (incomplete closure of the roof of the mouth), heart defects (abnormalities of the heart from the time of birth) and similar facial characteristics. The name Velocardiofacial Syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face thus incorporating the most common features of cleft palate, heart defects, and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems.
Cleft Lip And Palate - Related Syndromes [from CLAPA Ireland]
Velocardiofacial syndrome Velocardiofacial syndrome (VCFS), also known as Shprintzensyndrome, is the syndrome most commonly associated with a cleft palate
http://www.cleft.ie/related/

Extractions: Note: The large differences in the figures reported above may be due to the distinction between what constitutes a syndrome and what constitutes a malformation. A syndrome is where a number of conditions exist together, while referral to associated malformations may actually indicate a single condition existing in association with a cleft. [Eddie Byrne] Included are details of but a few known syndromes.
ACQ: W E B W O R D S - 5 - Caroline Bowen -
VeloCardio-Facial syndrome 22q deletion, chromosome 22q11.2 deletion, Shprintzensyndrome, DiGeorge syndrome 22q11 deletion syndrome Development and
http://members.tripod.com/~Caroline_Bowen/webwords5.htm

Extractions: Thoughts about the fundamental importance of having an intact anatomy for speech production have been running around my head for weeks. For the themes of this edition of the ACQ (the face, teeth, tongue and palate) take us directly to our speech therapy roots, making us think in the most uncomplicated of ways about the organs of speech: how they look and what they do. How basic it is when we meet new clients to start the assessment process by taking a covert but informed squiz at their faces. With a quick flash of the oral torch we invite ourselves to an inside tour of what they keep behind closed lips: you know, the teeth the fairy hasn't claimed yet, the tongue: thrusting, tied , or just plain big , and the palate (I'll get to that shortly )...all that sort of thing. But sometimes the oral musculature examination is deferred when we encounter for the first time a client whose facial features, in themselves, tell us much of what we need to know, and prompt us to reach for the journals to see if there is anything helpful or new for the client and clinician regarding Treacher Collins Syndrome , Velo-Cardio Facial ( Shprintzen) Syndrome ( here Craniosynostosis , or one of the myriad of other conditions and diseases listed in the NORD databases. NORD is the only organization of its kind; a unique federation of more than 140 not-for-profit voluntary health organizations serving people with rare disabilities. Its web site receives more than 5 million hits each year and over 1 million searches of its databases are made annually.
Canadian Directory Of Genetic Support Groups
(Chromosome) 22q11 Group (VeloCardio-Facial syndrome, DiGeorge syndrome, Shprintzensyndrome, 22q11.2 Deletions) Chromosome Deletion Outreach Inc (Chromosome
http://www.lhsc.on.ca/programs/medgenet/c_sup.htm
S Index
SHAKEN BABY syndrome. SHOPPING FOR YOUR CHILDREN. SHORT STATURE. SHPRINTZENsyndrome. SHWACHMAN syndrome. SHYDRAGER syndrome. SHYNESS. SIBLING RIVALRY.
http://www.childhealthinfo.com/sindex.htm

Extractions: Where to Start About ABC@F Press Child Care for the '90' - Owner's Manual Links ... Z SAFETY Please click on the "box below" to view the following topics. S Part I SALAMON SYNDROME SANDHOFF DISEASE SANFILIPPO SYNDROME SARCOIDOSIS SCHEIE SYNDROME SCHIZOPHRENIA SCHOLARSHIPS SCHOOLS SCLERODERMA SCOLIOSIS SECKEL SYNDROME SEIZURE DISORDERS Please click on the "box below" to view the following topics. S Part II SELF-ESTEEM SELF-HELP SELF MUTILATION SENIORS SEPARATION AND LOSS SEPTO-OPTIC DYSPLASIA SEX EDUCATION SEXUAL ABUSE SEXUAL HARASSMENT SEXUALLY TRANSMITTED DISEASES (STD'S) Please click on the "box below" to view the following topics. S Part III SHAKEN BABY SYNDROME SHOPPING FOR YOUR CHILDREN SHORT STATURE SHPRINTZEN SYNDROME SHWACHMAN SYNDROME SHY-DRAGER SYNDROME SHYNESS SIBLING RIVALRY SICK CHILDREN (SERIOUSLY ILL) SICKLE CELL ANEMIA SINGLE PARENTS SINUSITIS SJOGREN'S SYNDROME SKIN DISEASES Please click on the "box below" to view the following topics. S Part IV SLEEP APNEA SLEEP PROBLEMS SMELL AND TASTE PROBLEMS SMITH-LEMLI-OPITZ SYNDROME SMITH-MAGENIS SYNDROME SMOKING SMOKING, PREVENTION
Karger Publishers
External Resources 9 GoldingKushner KJ, Weller G, shprintzen RJ Velo-cardio-facialsyndrome Language and psychological profiles.
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
VCFS
This page is no longer supported. Please go to one of the other VCFS support pages such as www.vcfs.net, www.snonet.org/vcfs/ or www.vcfsef.org.
http://www.crosslink.net/~marchett/vcfs/vcfs.shtml
Metropolitan Cardiology Consultants (MCC) Was Established In 1985
Metropolitan Cardiology Consultants (MCC) was established in 1985 to provide comprehensive specialty care for patients with cardiovascular health needs. Our
http://www.metrocardiology.com/pcSites/alpha3.cfm?startletter=V&curpage=search

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