61. Shprintzen Syndrome Syndrome, shprintzen syndrome. Synonyms, Sedlackov?yndrome. velocardiofacialsyndrome (VCF, VCFS). velofacial hypoplasia http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome591.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Shprintzen syndrome Synonyms Sedlacková syndrome velocardiofacial syndrome (VCF, VCFS) velofacial hypoplasia Summary Typical facies with a prominent nose and retruded mandible, cleft palate, cardiovascular defects, learning disability, retarded mental development, and short stature. Elements of this syndrome are frequently present in the Robin syndrome. Major Features Head and neck: Elongated face, vertical maxillary excess, malar flatness, mandibular retrusion, facial asymmetry. macrocephaly, and basilar impression are the main defects. Ears: Malformed ears with small auricles and thickening of the helical rims. Otitis media may be associated. Eyes: Inability to close the eyes, narrow palpebral fissures, blue suborbital coloring, small optic disks, tortuous retinal vessels, blue sclerae, retinal colobomas, and cataracts may occur in various combinations. Nose: A wide base of the nose, hypoplastic alae nasi, and narrow nostrils. The philtrum is long. Mouth and oral structures: Shortening of the velum palatinum, deficient velopalatine closure, velar paresis, and submucous cleft palate. The upper lip is usually thin.

62. Search Jablonski's Syndromes Database VCF velocardiofacial syndrome region of the velocardiofacial syndrome (VCFS, shprintzen syndrome). the DiGeorge syndrome, shprintzen syndrome ( velocardiofacial syndrome) and http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=velocardiofacial syndrome

63. Isolation Of A Putative Transcriptional Regulator From The Region Of 22q11 Delet a putative transcriptional regulator from the region of 22q11 deleted inDiGeorge syndrome, shprintzen syndrome and familial congenital heart disease. http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/113631.html

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome , Shprintzen syndrome and familial congenital heart disease.A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region ( DGCR ) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine embryogenesis. The gene, named , and its murine homologue, encodes a protein containing repeated motifs similar to the WD40 domains found in the beta-transducin/enhancer of split (TLE) family. The product has several features typical of transcriptional control proteins and in particular has homology with the yeast transcriptional regulator. We propose that haploinsufficiency for is at least partly responsible for DiGeorge syndrome and related abnormalities. iHOP - Information Hyperlinked over Proteins Robert Hoffmann

64. Velo-Cardial-Facial Syndrome 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 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.

65. Syndrome Notes for physicians on 22q11 Deletion Syndrome (shprintzen syndrome, DiGeorgeSyndrome (DGS), Velocardiofacial Syndrome (VCFS), Conotruncal Anomaly Face http://omni.ac.uk/browse/mesh/D013577.html

low graphics Syndrome broader: Disease Alstrom syndrome: UK support group Alstrom Syndrome is a very rare condition, with symptoms including childhood blindness, early hearing loss, diabetes, cardiomyopathy and kidney failure. The Alstrom Syndrome UK Support Group aims to alleviate suffering, and provide support for those with Alstrom Syndrome, and raise public awareness of the condition. 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. Syndrome Genetic Diseases, Inborn Charities 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. Lat reviewed in July 2003. Syndrome Gene Deletion Chromosomes, Human, Pair 22

66. Cleft Lip And Palate And Velocardiofacial Syndrome [from CLAPA Ireland] VCFS is also known as shprintzen syndrome after Dr. Robert Shprintzen who firstdescribed it in 1978. Though the two terms are often used interchangeably, http://www.cleft.ie/related/vcfs.htm

You are here: Home Page Related Syndromes Velocardiofacial Syndrome Velocardiofacial Syndrome VCFS is also known as Shprintzen syndrome after Dr. Robert Shprintzen who first described it in 1978. Though the two terms are often used interchangeably, DiGeorge sequence and VCFS are clinically distinct but overlapping conditions. The cause who are diagnosed as having VCFS. Associated conditions Aside from cleft palate, there are up to 184 other anomalies commonly associated with VCFS, including heart defects, unique facial characteristics (elongated face, almond-shaped eyes, small ears, wide nose), speech and feeding problems, middle ear infections, and learning difficulties. Not all anomalies are present in the child, nor is any one anomaly present in all cases. The features with which the child is born do not get progressively worse over time. Inherited?

67. UNC Department Of Psychiatry Research syndrome (VCFS), DiGeorge sequence, shprintzen syndrome, Robin sequence, the other named syndromes (like DiGeorge syndrome or shprintzen syndrome). http://www.psychiatry.unc.edu/research/def_cognitive.htm

68. Www.ddhealthinfo.org - Medical Care Information Also known as shprintzen syndrome, Craniofacial syndrome or Conotruncal Anomaly Velocardiofacial (Shprintzen) syndrome an important syndrome for the http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5167

69. Molecular Medicine Unit syndrome (VCFS), or shprintzen syndrome (Goldberg et al., 1993). in DiGeorgeSyndrome, shprintzen syndrome and familial congenital heart disease. http://www.ich.ucl.ac.uk/units/mmu2.htm

Molecular Medicine Unit Projects (1) DiGeorge syndrome (DGSI)/CATCH22 The unit investigates the clinical and molecular defects in this spectrum of disorders. A range of positional cloning, developmental and functional analyses are undertaken. We are priviledged to work with a large number of groups in the UK and internationally. From: Scambler, P.J. (1994). DiGeorge syndrome and related birth defects. Seminars in Developmental Biology ABSTRACT Classically, DiGeorge syndrome patients have congenital heart defects, particularly involving the outflow tract, hypocalcaemia, cell-mediated immune deficiency, learning or behavioural problems, craniofacial dysmorphism and hemizygosity for a region of human chromosome 22q11. This chromosomal abnormality is now known to cause other syndromal defects and apparently isolated congenital heart disease. Although most patients have a large deletion, at least 2Mb, a critical region of 300kbp has been defined. Within this region a putative transcriptional regulator called TUPLE-1 has been identified.

70. GPCRDB Extraction Of Mutation Data From The Literature Table 1 Phenotypic features in four Goldbergshprintzen syndrome patients Case1 VI.1 Case 2 V.4 Case V.6 Case 4 V.9 HSCR SS-HSCR TCA SS-HSCR No HSCR http://www.gpcr.org/7tm/mutation/SameResidue_Xtext/EDNRB_HUMAN_305_Xtext.html

GPCRDB: Extraction of mutation data from the literature GPCRDB This data was extracted from Medline abstracts and full texts (when available) in an automated manner. The table below describes different point mutations at a given position and provides links to other documents. The sentence(s) where the point mutations in at position were found are listed after the table. Point mutations at position S305 in EDNRB_HUMAN Protein Gene: EDNRB,ETR (other point mutations) Swiss-Prot Cross-reference table Family page Position General numbering (GPCRDB) Domain Loop 5-6 2D diagram with available mutation data from MuteXt Family alignments Endothelin Peptide Class A Rhodopsin like Other point mutations at the same position Position in Endothelin family Position in Peptide family Position in Class A Rhodopsin like family Reference #1 Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM J Med Genet 1999 Jun;36(6):485-9. Medline Text source HTML and PDF full texts Point mutation (True positive) Cited point mutation Reference #2 Abe Y, Sakurai T, Yamada T, Nakamura T, Yanagisawa M, Goto K

71. Syracuse.com has velocardio-facial syndrome, also known as shprintzen syndrome - named for Shprintzen says 250 to 300 doctors, nurses, therapists, researchers, http://www.syracuse.com/living/poststandard/index.ssf?/base/living-0/11215035499

72. Autonomic Differential Diagnosis Goldbergshprintzen syndrome (GOSHS) with polymicrogyria22; Similar Dominantlyinherited syndrome Mowat-Wilson. Epidemiology Moroccan family; Genetics http://www.neuro.wustl.edu/neuromuscular/autonomic.html

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73. Velocardiofacial Syndrome [NIDCD Health Information] VCFS may also be known as shprintzen syndrome, DiGeorge syndrome, Craniofacialsyndrome or Conotruncal Anomaly Unusual Face Syndrome. http://www.nidcd.nih.gov/health/voice/velocario.asp

Change text size: S M L Home ... Voice, Speech, and Language Velocardiofacial Syndrome On this page: What is velocardiofacial syndrome? What causes velocardiofacial syndrome? What are the features of velocardiofacial syndrome? How common is velocardiofacial syndrome? ... Where can I get additional information? What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems. Although VCFS is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, described 12 children with the disorder. Most or all of these first 12 children were born with a cleft palate, heart defects and similar faces. VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.

74. Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen Dr. Shprintzen named this group of features velocardio-facial (VCF) syndrome,but the syndrome was also referred to as shprintzen syndrome. http://server2k.genetics.emory.edu/ask/user/view_response.pl?resp=51&temp=3

75. OMIM - Online Mendelian Inheritance In Man They called the condition Goldbergshprintzen syndrome, The Goldberg-Shprintzenmegacolon syndrome has some resemblance to the Mowat-Wilson syndrome http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=OMIM&dopt=Detailed

76. Entrez PubMed In 1981, Goldberg and Shprintzen described siblings with shortsegment Hirschsprungdisease, cleft p http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

77. ISACCD - Glossary S-Z shprintzen syndrome. see also CATCH22; venous (or pulmonary) AV valve The AVvalve guarding the inlet to the venous, or pulmonary, ventricle. http://www.isaccd.org/profres/sz.php

@import url(../css/hidden.css); Become a Member Professional Resources News Jobs/Training ... Home a Find terms beginning with: A B C D ... Z Revised April 2002 Contact (email) Jack Colman: j.colman@utoronto.ca Erwin Oechslin: erwin.oechslin@usz.ch Dylan Taylor: dtaylor@cha.ab.ca Purpose The purpose of this glossary is to help guide those reading and researching in the area of adult congenital heart disease. It is meant to be a living document, constantly under revision, improvement, correction, as you, its users, find ways to ease the path for those who follow. To this end, if you cannot find a term you think should be here, or if you disagree with a definition, or see a way to improve it, drop us an e-mail before you move on. We promise to consider all feedback carefully, and to make additions and revisions often. We hope you find the glossary helpful. Prepared by: Jack M. Colman MD, FRCPC, FACC Erwin Oechslin MD Dylan Taylor MD, FRCPC, FACC Job Board: Search Post Professional Resources Sep 09, 2005 sail sound An auscultatory finding in some patients with Ebstein anomaly. The S1 includes mitral valve closure as its first component with a delayed tricuspid component. The abnormally large tricuspid anterior leaflet snapping like a sail catching the wind causes this delayed closure. The sail sound is not an ejection click, although it may simulate one. scimitar syndrome A constellation of anomalies including infradiaphragmatic total or partial anomalous pulmonary venous connection of the right lung to the inferior vena cava, often associated with hypoplasia of the right lung and right pulmonary artery. The lower portion of the right lung tends to receive its arterial supply from the abdominal aorta. The name of the syndrome derives from the appearance on PA chest x-ray of the shadow formed by the anomalous pulmonary venous connection, which resembles a Turkish sword, or scimitar.

78. GUiDE Search Results shprintzen syndrome 22Q11 deletion support by DiGeorge Syndrome (DGS),Velo Cardio Facial Syndrome (VCFS), shprintzen syndrome and 22Q11 deletion. http://www.guide-information.org.uk/guide/guide-search.lasso?keywdlist=22Q11 del

79. Max Appeal Max Appeal is a support and self help group for families affected by DiGeorgeSyndrome (DGS), Velo Cardio Facial Syndrome (VCFS), shprintzen syndrome and http://www.guide-information.org.uk/guide/search_index_detail.lasso?RecID=G12757

80. NORD - National Organization For Rare Disorders, Inc. Conotruncal Anomaly Face Syndrome; Craniofacial Syndrome; shprintzen syndrome.Disorder Subdivisions. General Discussion Velocardiofacial syndrome, (VCFS) http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Velocardiofac

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