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Topic: Velocardiofacial syndrome

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	Velo-Cardio-Facial Syndrome, Cincinnati Children's Hospital Medical Center (Site not responding. Last check: 2007-10-11)
		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.
		However, it is estimated that velocardiofacial syndrome is inherited this way in only 10 percent to 15 percent of cases.
		Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
	www.cincinnatichildrens.org /health/heart-encyclopedia/disease/syndrome/vcfs.htm?view=content (809 words)

	Thomas
		This girl with VCF syndrome was diagnosed in 1982 based on her facial features, growth, and developmental delay with borderline mental retardation, a right-sided aortic arch, and recurrent respiratory infections.
		This syndrome has previously been considered to be a contiguous gene deletion, but it may actually be the case that only one or a few genes play a major role in the pathogenesis of the syndrome's characteristic phenotypic features.
		Stickler syndrome and cerebrocostomandibular syndrome are associated with cleft palate and micro/retrognathia, while fetal alcohol syndrome and persistent left superior vena cava syndrome may have cleft palate and cardiac anomalies.
	www.psychiatry.med.uwo.ca /ddp/mededucation/corecur/publish/Thomas.htm (6552 words)

	NORD - National Organization for Rare Disorders, Inc. (Site not responding. Last check: 2007-10-11)
		Velocardiofacial syndrome, (VCFS), a rare genetic disorder, is characterized by abnormalities of the head and facial (craniofacial) area, heart defects that are present at birth (congenital heart defects), diminished muscle tone (hyptonia), mild small stature, slight delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), and learning disabilities.
		The heart defect most often associated with velocardiofacial syndrome is an abnormal opening in the fibrous partition (septum) that separates the heart's two lower chambers (ventricular septal defect).
		Velocardiofacial syndrome is inherited as an autosomal dominant genetic trait and is sometimes known as chromosome 22q11 deletion spectrum because it is associated with multiple identifying features known to occur as a result of a deletion of genetic material on chromosome 22.
	www.rarediseases.org /search/rdbdetail_abstract.html?disname=Velocardiofacial%20Syndrome (370 words)

	Velocardiofacial Syndrome
		The most common heart defect associated with Velocardiofacial Syndrome is an abnormal opening in the fibrous partition (septum) that separates the heart's two lower chambers (ventricular septal defect).
		Velocardiofacial Syndrome is inherited as an autosomal dominant genetic trait.
		DiGeorge Syndrome is a complex group of congenital malformations among which is susceptibility to recurrent infections due to a deficient immune system and the occurrence of seizures during infancy due to low levels of calcium in the blood.
	hw.healthdialog.com /kbase/nord/nord853.htm (1774 words)

	Geometry.Net - Health_Conditions: Shprintzen Syndrome
		Goldberg Shprintzen Syndrome is an inherited condition caused by the deletion of a very small part of the DNA in the long arm of chromosome 22.
		Velocardiofacial Syndrome Important It is possible that the main title of the report Velocardiofacial Syndrome is not the name you expected.
		DiGeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development.
	www4.geometry.net /detail/health_conditions/shprintzen_syndrome.html (2190 words)

	Editorial
		Velocardiofacial syndrome (VCFS) is a genetic disorder with an estimated frequency of 1 in 4000 live births(1).
		Both the children were diagnosed as cases of velocardiofacial syndrome and they were provided rehabilitation particularly speech therapy and special education.
		The identification of this disorder is dificult because it is a multisystem syndrome with numerous anomalies.
	www.indianpediatrics.net /march-315-319.htm (1612 words)

	Development and Neurobiology: Genetics of Childhood Disorders: XXV. Velocardiofacial Syndrome
		Velocardiofacial syndrome (VCFS) is a genetic syndrome with a range of psychiatric symptoms.
		Hypocalcemia and T-cell immunodeficiency are typical of the DiGeorge syndrome phenotype and are caused by hypoplastic parathyroid and thymus glands, respectively.
		One example of a contiguous gene deletion syndrome is Williams syndrome, which is caused by a microdeletion on chromosome 7.
	info.med.yale.edu /chldstdy/plomdevelop/genetics/01aprgen.htm (2036 words)

	History
		Syndromes are generally names after the person or persons who first described the collection of findings.
		He called this condition velocardiofacial syndrome (velo means palate or roof of the mouth, cardio stands for heart, and facial stands for the typical facial characteristics seen in their patients).
		Since Dr. Driscoll's discovery that DiGeorge syndrome and VCFS are in fact the same diagnosis, other "syndromes" have been added to the list of diagnoses which have the 22q11.2 deletion as the underlying cause of the patients' problems.
	www.cbil.upenn.edu /VCFS/history.html (1975 words)

	Cleft Palate, Velocardiofacial Syndrome
		Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features.
		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.
		VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.
	www.habibintl.com /cleft-palate.htm (275 words)

	Geometry.Net - Health_Conditions: Shprintzen Syndrome
		Their children suffer from Velo-Cardio-Facial Syndrome (VCFS), and Dr. Shprintzen is the world's authority on this complexand perplexingand surprisingly common genetic disorder Commonly known as Shprintzen syndrome, VCFS is a genetic condition that impairs almost every bodily function and occurs as often as one in every 2000 births.
		Extractions: Goldberg Shprintzen Syndrome is an inherited condition caused by the deletion of a very small part of the DNA in the long arm of chromosome 22.
		Extractions: Velo-Cardio-Facial Syndrome Specialist Fact Sheet Velo-cardio-facial syndrome (VCFS), also known as Shprintzen syndrome, sometimes presenting as the DiGeorge sequence, is caused by a deletion of a small segment of the long arm of chromosome 22.
	www4.geometry.net /health_conditions/shprintzen_syndrome.html (1896 words)

	Velocardiofacial Syndrome
		Although the gene or genes that cause VCFS have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22.
		When one of the parents has VCFS the chance of their children having the syndrome is 1 in 2 or about 50/50 for each birth.
		In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown.
	www.healthieryou.com /velcard.html (511 words)

	eMedicine - Velocardiofacial Syndrome : Article Excerpt by: Robert Ardinger, Jr, MD (Site not responding. Last check: 2007-10-11)
		Background: Velocardiofacial syndrome (VCFS) is a genetic condition characterized by structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, developmental delay, and learning disabilities.
		Reports indicate that patients with VCFS may be mistakenly categorized as having the CHARGE syndrome (ie, coloboma, heart disease, atresia, choanae, retarded growth and retarded development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness).
		VCFS is a specific syndrome that includes as part of its phenotypic spectrum the DiGeorge sequence, Robin sequence, and disorders associated with CHARGE syndrome.
	www.emedicine.com /ped/byname/velocardiofacial-syndrome.htm (535 words)

	Cardiovascular Genetics - 22q11 Deletion Syndrome- Resources
		Velocardiofacial syndrome: implications of microdeletion 22q11 for schizophrenia and mood disorders.
		Intelligence and psychosocial adjustment in Velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
		The behavioral phenotype in Velocardiofacial syndrome: from infancy to adolescence.
	www.cardiogenetics.org /del22q11_refs.asp (1637 words)

	Velo-Cardio-Facial Educational Foundation
		Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. The Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners.
		VCFS -- also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 -- is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans.
		Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings.
	www.vcfsef.org (204 words)

	Velocardiofacial Syndrome - Evaluation, Treatment and Research at the National Institute of Mental Health
		Small deletion syndromes are caused by the loss of a stretch of genes from one of the two chromosomes they are located on during germ cell development.
		The most common such condition, Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems.
		We are recruiting participants with 22q11.2 syndrome to come to our main campus in Bethesda, MD, to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging.
	patientinfo.nimh.nih.gov /VelocardiofacialSyndrome.aspx (283 words)

	22q11.2 Deletion Syndrome
		The 22q11.2 deletion syndrome is diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by fluorescence in situ hybridization (FISH) using DNA probes from the DiGeorge chromosomal region (DGCR).
		It is now recognized that the 22q11.2 deletion syndrome encompasses the phenotypes previously described as DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) (Shprintzen syndrome) and that the clinical descriptions of DGS and VCFS resulted from an ascertainment bias.
		If the parents of an individual with the 22q11.2 deletion syndrome have normal FISH studies, the recurrence risk is quite small, but not zero, since parents with germline mosaicism or low level somatic mosaicism have been identified.
	www.geneclinics.org /profiles/22q11deletion/details.html? (5289 words)

	University of Miami School of Medicine - Glossary - Velocardiofacial syndrome
		Velocardiofacial syndrome: A congenital malformation syndrome characterized by cleft palate, heart defects, abnormal facial structure, and learning problems.
		The cause of the velocardiofacial (VCF) syndrome is a microdeletion in chromosome band 22q11.2, as in the DiGeorge syndrome.
		The VCF and DiGeorge syndromes are different clinical expressions of essentially the same chromosome defect.
	www.med.miami.edu /glossary/art.asp?articlekey=5972 (132 words)

	Di George/Velocardiofacial Syndrome - FISH Analysis
		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.
		Velocardiofacial (Shprintzen) syndrome often presents with overt or submucous cleft palate, conotruncal defects, hypotonia, dysmorphic facies, developmental delay, small stature and velopharyngeal incompetence.
		Patients with clinical features suggestive of DiGeorge syndrome or VCFS may be tested for deletions of 10p13p14 and 22q11.2 simultaneously.
	www.bcmgeneticlabs.org /tests/cyto/digeorgevelocardiofacial.html (444 words)

	Ear, Nose & Throat Journal: Avoiding perils and pitfalls in velocardiofacial syndrome: an otolaryngologist's ... (Site not responding. Last check: 2007-10-11)
		While our case was relatively classic and severe, it should be emphasized that velocardiofacial syndrome of various degrees of severity can be seen by a number of different healthcare providers.
		The otolaryngologist and the patient with velocardiofacial syndrome.
		Confirmation that velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
	www.findarticles.com /p/articles/mi_m0BUM/is_1_82/ai_97754545/pg_3 (664 words)

	www.ddhealthinfo.org - Medical Care Information (Site not responding. Last check: 2007-10-11)
		Velocardiofacial Syndrome (VCFS) is an autosomal dominant disorder that has been associated with as many as 40 different features.
		Also known as Shprintzen syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face syndrome, VCFS was recognized in 1978 by Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York.
		In most instances, neither of the parents has the syndrome or carries the defective gene, and the cause of the deletion is spontanteous.
	www.ddhealthinfo.org /ggrc/doc2.asp?ParentID=5167 (1039 words)

	Special Child: Disorder Zone Archives - Velocardiofacial Syndrome
		Velocardiofacial syndrome (VCFS), also known as DiGeorge syndrome, is a disorder characterized by cleft palate, heart abnormalities, learning disabilities, and various other clinical findings.
		Therefore, in most cases, neither parent has the syndrome or carries the defective gene and the cause of the deletion is unknown.
		Since it is common for children with the syndrome to have a cleft palate, which can cause difficulties with speech and swallowing, corrective surgery may be needed.
	www.specialchild.com /archives/dz-029.html (5015 words)

	Investigation of White Matter Structure in Velocardiofacial Syndrome: A Diffusion Tensor Imaging Study -- Barnea-Goraly ...
		in density, coherence, or myelinization in the velocardiofacial
		of the splenium of the corpus callosum in velocardiofacial syndrome,
		syndrome (12, 14) is intriguing to consider in light of the
	ajp.psychiatryonline.org /cgi/content/full/160/10/1863 (3637 words)

	CHIN: Velocardiofacial Syndrome
		Velo-cardio-facial syndrome (VCFS) is a genetic condition commonly associated with cleft palate, cardiac malformations, severe speech problems and learning disabilities.
		identified the syndrome and coined the name velo-cardio-facial syndrome to describe the characteristic phenotype (the observable physical and behavioral characteristics).
		The most frequent heart problems seen in children with a deletion of chromosome 22q are interrupted aortic arch, truncus arteriosus, tetralogy of Fallot with pulmonary atresia, absent pulmonary valve syndrome, simple tetralogy of Fallot, conotruncal venticular septal defect and any congenital heart defect with absence of the thymus.
	www.tchin.org /resource_room/c_art_01.htm (698 words)

	DiGeorge Syndrome
		Most children with a 22q11 deletion are the first person in their family to have that problem. Through some elegant scientific studies, we now understand that this area of chromosome 22 is prone to loss. Thus, there will always be a small risk of new 22q11 deletion for any pregnancy.
		If the doctors decide that neither parent has a 22q11 deletion syndrome, then the risk for others in the family including their other children (siblings of the child with the 22q11 deletion) is no greater than anyone else in the world, which is estimated at 1 in 2,000 births.
		If a sibling of a child with 22q11 deletion does not have the deletion, then they cannot pass it along to their children.
	www.americanheart.org /presenter.jhtml?identifier=3018193 (267 words)

	Psychosis, Electrolyte Imbalance, and Velocardiofacial Syndrome -- Thomas 44 (4): 348 -- Psychosomatics
		Psychosis, Electrolyte Imbalance, and Velocardiofacial Syndrome -- Thomas 44 (4): 348 -- Psychosomatics
		syndrome as a potential genetic-developmental model for schizophrenia.
		Eliez S, Antonarakis SE, Morris MA, Dahoun SP, Reiss AL: Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study.
	psy.psychiatryonline.org /cgi/content/full/44/4/348 (1148 words)

	Children and Adolescents With Velocardiofacial Syndrome: A Volumetric MRI Study -- Eliez et al. 157 (3): 409 -- ...
		Children and Adolescents With Velocardiofacial Syndrome: A Volumetric MRI Study -- Eliez et al.
		in the children with velocardiofacial syndrome (figure 1).
		Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS: Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
	ajp.psychiatryonline.org /cgi/content/full/157/3/409 (3915 words)

	Velocardiofacial Syndrome - Synonyms of Augusta, Georgia
		Velocardiofacial syndrome, (VCFS), a rare genetic disorder, is characterized by abnormalities of the head and facial (craniofacial) area, heart defects that are present at birth (congenital heart defects), diminished muscle tone (hyptonia), mild small stature, slight delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), and/or learning disabilities.
		Velocardiofacial syndrome is sometimes also known as chromosome 22q11 deletion spectrum because it is associated with multiple identifying features known to occur as a result of a deletion of genetic material on chromosome 22.
		This syndrome is also associtaed with other names (see synonyms).
	www.universityhealth.org /15666.cfm (629 words)

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