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Topic: Shprintzen syndrome

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	UNSW Embryology-OMIM DIGEORGE SYNDROME
		DiGeorge syndrome overlaps clinically with the disorder described by the Japanese as 'conotruncal anomaly face syndrome' (Kinouchi et al., 1976; Takao et al., 1980; Shimizu et al., 1984), where the cardiovascular presentation is the focus of attention.
		Shprintzen (1994) objected to 'lumping' velocardiofacial syndrome with the DiGeorge anomaly, arguing that there is 'no valid evidence to suggest that velocardiofacial syndrome is etiologically heterogeneous...[whereas] the DiGeorge anomaly is known to be so.' Hall (1993) cited data of Driscoll et al.
		She stated that '...68% of Shprintzen syndrome patients...have been recognised to have deletions of 22q11.' Shprintzen (1994) refuted her statement, maintaining that it could accurately be stated that deletion was found in 68% of patients sent to the Driscoll laboratory with a diagnosis of velocardiofacial syndrome made by other clinicians.
	embryology.med.unsw.edu.au /OMIMfind/endocrine/OMIM-188400.htm (5802 words)

	DiGeorge Syndrome at Children's Comprehensive Center for Heart Care in Dallas, Texas
		Shprintzen named this group of features velo-cardio-facial syndrome, but the syndrome was also referred to as Shprintzen syndrome.
		In other words, this was the same syndrome, but because several different researchers in different areas of expertise had described it, the syndrome carried multiple names.
		As mentioned, 90 percent of patients with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region.
	www.childrens.com /cardiology/diagnoses/digeorge_syndrome.cfm (1198 words)

	A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) ...
		Mutations of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
		Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.
		Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.
	jmg.bmj.com /cgi/content/full/36/6/485 (2324 words)

	Velo-cardio-facial Syndrome - Lucile Packard Children's Hospital
		Velo-cardio-facial syndrome (VCFS) is a genetic condition that is related to DiGeorge syndrome and involves a similar chromosome abnormality as DiGeorge syndrome.
		Velo-cardio-facial syndrome is a genetic disorder with varying conditions present in each individual with the syndrome.
		DiGeorge syndrome describes the same clinical features as Velo-cardio-facial syndrome, but an individual must have immune system deficiencies associated with lack of a thymus gland to be considered to have true DiGeorge syndrome.
	www.lpch.org /DiseaseHealthInfo/HealthLibrary/cardiac/digeorge.html (1235 words)

	VCFS Educational Foundation, Main
		The Foundation is organized divisionally into a number of continental groups, with directors for each part of the world represented on the Foundation's board.
		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 (182 words)

	Allergy, Asthma, and Immunology - DiGeorge Syndrome
		DiGeorge Syndrome is a genetic disorder with varying conditions present in each individual with the syndrome.
		However, conditions that are common to the syndrome include certain heart defects, effects on facial appearance, and lack of or underdeveloped thymus and parathyroid glands.
		Velo-cardio-facial syndrome (VCFS) is a genetic condition that is related to DiGeorge Syndrome.
	www.musckids.com /health_library/allergy/digeorge.htm (1202 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).
		The 22q11.2 deletion syndrome is a contiguous deletion syndrome inherited in an autosomal dominant manner.
		If the parents of an individual with the 22q11.2 deletion syndrome have normal FISH studies, the risk to sibs is low, but greater than that of the general population because parents with germline mosaicism or low-level somatic mosaicism have been identified.
	www.geneclinics.org /profiles/22q11deletion/details.html (5278 words)

	Shprintzen syndrome (Site not responding. Last check: 2007-09-09)
		Shprintzen syndrome is an inherited condition caused by the deletion of a tiny part of the DNA in the long arm of chromosome 22.
		Shprintzen syndrome is the most common disorder to affect a group of neighbouring genes and one of the most common causes of multiple abnormalities in humans.
		The condition is passed on in an autosomal dominant way, but may also occur as a new mutation, where there's no family history (in some cases it may be that the parent is mildly affected and has never been diagnosed).
	www.intellimeds.com /conditions/shprintzen_syndrome.aspx (283 words)

	22q11.2 deletion syndrome - Genetics Home Reference
		The COMT and TBX1 genes are associated with 22q11.2 deletion syndrome.
		This condition is often described as a contiguous gene deletion syndrome because a deletion in chromosome 22 leads to the loss of many genes that are close together.
		The inheritance of 2q11.2 deletion syndrome appears to be autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition.
	ghr.nlm.nih.gov /condition=22q112deletionsyndrome (969 words)

	Velocardiofacial (22q11.2 Deletion) Syndrome \| Craniofacial Center \| Children's Hospital and Regional Medical Center
		The most common features of velocardiofacial syndrome are cleft palate (an opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.
		Velocardiofacial syndrome was recognized by Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York in 1978.
		The cause of 22q11.2 syndrome is not known, although it is known to be a genetic disorder.
	craniofacial.seattlechildrens.org /conditions_treated/velocar.asp (1154 words)

	Velocardiofacial Syndrome
		Velocardiofacial Syndrome is inherited as an autosomal dominant genetic trait.
		The lobe in the middle of the back of the soft palate (uvula) is split and there is a thin union of the two halves of the palate in the middle with a mucous covering on the rear portion of the mouth.
		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)

	DiGeorge Syndrome
		DiGeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development.
		Nezelof Syndrome is a rare immune deficiency disorder characterized by the impairment of cellular immunity against infections.
		Wiskott-Aldrich Syndrome is a rare inherited disorder of childhood characterized by immunodeficiency that results in recurrent skin rashes (eczema) and abnormally low levels of circulating platelets in the blood (thrombocytopenia).
	hw.healthdialog.com /kbase/nord/nord74.htm (2630 words)

	:Otolaryngology Department:SUNY Upstate Medical University (Site not responding. Last check: 2007-09-09)
		Their children suffer from Velo-Cardio-Facial Syndrome (VCFS), and Dr. Shprintzen is the world's authority on this complex--and perplexing--and 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.
		Shprintzen, a speech pathologist who specializes in genetic disorders of communication, identified Shprintzen syndrome in the late 1970s, when he was director of a large craniofacial center at the Albert Einstein College of Medicine in the Bronx.
	www.upstate.edu /ent/centers/velo.php (486 words)

	Velocardiofacial Syndrome
		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.webmd.com /hw/health_guide_atoz/nord853.asp (584 words)

	:Public Affairs:SUNY Upstate Medical University
		Robert J. Shprintzen, Ph.D., director of the Communication Disorder Unit and the Center for the Diagnosis, Treatment and Study of Velo-Cardio Facial Syndrome at SUNY Upstate Medical University, now has support in Australia for helping children diagnosed with the medical condition he discovered in 1978.
		Shprintzen Syndrome, otherwise known as Velo-Cardio-Facial Syndrome, is a genetic disorder that causes cleft palate, heart defects and abnormal facial appearance and learning problems.
		While the cause of Shprintzen Syndrome is unknown, scientists have found that most children identified as having the condition are missing a small piece of chromosome 22.
	www.upstate.edu /publicaffairs/public_media/?id=434.htm (286 words)

	Di George/Velocardiofacial Syndrome - FISH Analysis
		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.
		Patients with clinical features suggestive of DiGeorge syndrome or VCFS may be tested for deletions of 10p13p14 and 22q11.2 simultaneously.
	www.bcm.edu /geneticlabs/tests/cyto/digeorgevelocardiofacial.html (444 words)

	Medical Dictionary: Shprintzen syndrome - WrongDiagnosis.com
		Shprintzen syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Shprintzen syndrome, or a subtype of Shprintzen syndrome, affects less than 200,000 people in the US population.
		Shprintzen syndrome: Shprintzen syndrome is listed as a type of (or associated with) the following medical conditions in our database: Chromosome conditions, Chromosome deletion syndromes
	www.wrongdiagnosis.com /medical/shprintzen_syndrome.htm (254 words)

	BBC - Health - Conditions - Shprintzen syndrome (Site not responding. Last check: 2007-09-09)
		Shprintzen syndrome - also known as velo-cardio-facial syndrome - is a genetic condition that causes multiple abnormalities, ranging from very mild to severe.
		There's a range of conditions resulting from mutations in this area of chromosome 22, ranging from deletions that cause no obvious health problems to severe disruption of normal development (for example, in a condition known as DiGeorge syndrome.
		There is a typical facial appearance, with a prominent tubular nose, narrow almond-shaped palpebral fissures, small open mouth and slightly retruded mandible, a small head, short stature, slender hands and fingers (known as a Marfanoid appearance but separate from Marfan syndrome).
	www.bbc.co.uk /health/conditions/shprintzen1.shtml (468 words)

	Shprintzen syndrome - definition from Biology-Online.org
		The condition is also called the velo-cardio-facial (vcf) syndrome.
		The cause is usually a microdeletion in chromosome band 22q11.2, just as in digeorge syndrome.
		Shprintzen and digeorge syndromes are different clinical expressions of essentially the same chromosome defect.
	www.biology-online.org /dictionary/Shprintzen_syndrome (157 words)

	eMedicine - DiGeorge Syndrome : Article Excerpt by Iftikhar Hussain
		Conditions associated with DiGeorge syndrome are 22q11 deletion syndromes, velocardiofacial syndrome (VCFS or Shprintzen syndrome), conotruncal anomaly face syndrome, Cayler syndrome, Opitz-GBBB syndrome, and CHARGE (coloboma [eye], heart anomaly, atresia [choanal], retardation [mental and growth], genital anomaly, ear anomaly) syndrome.
		DiGeorge anomaly (DGA) is a congenital immunodeficiency characterized by abnormal facies; congenital heart defects; hypoparathyroidism with hypocalcemia; cognitive, behavioral, and psychiatric problems; and increased susceptibility to infections.
		The constellation of defects is not a syndrome resulting from a single cause, but rather the failure of an embryological field to develop normally.
	www.emedicine.com /med/byname/digeorge-syndrome.htm (756 words)

	DiGeorge Syndrome - Children's Hospital of Philadelphia
		In the 1980s, the technology was developed to identify an underlying chromosome defect in these syndromes and it was determined that over 90% of all patients with features of DiGeorge, Shprintzen, and velo-cardio-facial syndromes had a chromosome deletion in the region of 22q11.
		Ninety percent of patients with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region.
		Sometimes, other chromosome defects have been associated with these features, as well as maternal diabetes, fetal alcohol syndrome, and prenatal exposure to Accutane® (a medication for cystic acne).
	www.chop.edu /consumer/your_child/condition_section_index.jsp?id=-9065 (1133 words)

	The DRM WebWatcher: Velo-Cardio-Facial Syndrome
		Velo-Cardio-Facial syndrome (VCFS) is a genetic disorder that has been associated with over thirty different features, including cleft palate, heart defects, characteristic facial appearance, minor learning problems, and speech and feeding problems.
		It is caused by a deletion of a small segment of chromosome 22.
		The website of "an international not-for-profit, self-help organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners." Includes a fact sheet, newsletters, list of support groups, references, and more.
	www.disabilityresources.org /VELO.html (171 words)

	22q11.2 deletion syndrome - Wikipedia, the free encyclopedia
		DiGeorge syndrome causes migration defects of neural crest-derived tissues, particularly affecting development of the third and fourth Branchial pouch (pharyngeal pouches).
		Receptive language, which is the ability to comprehend, retain, or process spoken language, can also be impaired although not usually with the same severity as expressive language impairments.
		Solot, Cynthia B. and Knightly, Carol; Handler, Steven D.; Gerdes, Marsha; McDonald-McGinn, Donna M.; Moss, Edward; Wang, Paul; Cohen, Marilyn; Randall, Peter and Larossa, Don; Driscoll, Deborah A. “Communication Disorders in the 22Q11.2 Microdeletion Syndrome.” Journal of Communication disorders.
	en.wikipedia.org /wiki/DiGeorge_syndrome (1721 words)

	Medical Dictionary: Shprintzen VCF syndrome - WrongDiagnosis.com
		Shprintzen VCF syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Shprintzen VCF syndrome, or a subtype of Shprintzen VCF syndrome, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Shprintzen VCF syndrome:
	www.wrongdiagnosis.com /medical/shprintzen_vcf_syndrome.htm (221 words)

	eMedicine - DiGeorge Syndrome : Article by Iftikhar Hussain
		An estimated 25% of children with 22q11 deletion syndrome develop schizophrenia in late adolescence or adulthood.
		DiGeorge anomaly and velocardiofacial syndrome (VCFS) were recently found to be significantly associated with eczema and asthma but not with allergic rhinitis (Staple, 2005).
		Diagnosis of DiGeorge anomaly is based on the presence of congenital cardiac malformations, hypocalcemia secondary to hypoparathyroidism, and a small or absent thymus.
	www.emedicine.com /med/topic567.htm (5011 words)

	Mowat-Wilson syndrome -- Mowat et al. 40 (5): 305 -- Journal of Medical Genetics
		Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22–q23.
		Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott H, Rauch A. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.
		Hirschsprung’s disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.
	jmg.bmj.com /cgi/content/full/40/5/305 (2984 words)

	Chromosome 22 Central
		22q11 deletion is associated with Velo-Cardio-Facial Syndrome (VCFS, Shprintzen Syndrome), DiGeorge Sequence, CATCH 22, Conotruncal Anomaly Face syndrome (CAFS) (Japan) and sometimes seen in Opitz G/BBB syndrome, CHARGE Association and Cayler-Cardio-Facial Syndrome.
		The reason for the difference in names, is partly due to different preferences in terminology by different doctors.
		It is the most common microdeletion syndrome.The explanation of this is best said in Dr. Shprintzen's article "The Name Game" and can be found on the VCFS Institute's site.
	www.nt.net /~a815/vcfs.htm (763 words)

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