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	Costello syndrome - Wikipedia, the free encyclopedia
		Costello syndrome is a genetic disorder that affects many parts of the body.
		Mutations in the HRAS gene cause Costello syndrome.
		Costello syndrome is inherited in an autosomal dominant manner, which means one copy of the altered gene is sufficient to cause the disorder.
	en.wikipedia.org /wiki/Costello_syndrome (510 words)

	AghilhaM- Medicine - Neonatal Diseases and Abnormalities
		Angelman Syndrome - A rare congenital disorder characterized by mental retardation and a tendency to jerky movement, caused by the absence of certain genes normally present on the copy of chromosome 15 inherited from the mother.
		Characteristics of the syndrome include severe mental and growth retardation; congenital heart disease and other internal defects; and a multitude of bodily deformities, such as low-set and malformed ears, cleft lip and palate, a receding chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.
		The principal symptoms of a child born with fetal alcohol syndrome are retarded growth both before and after birth; various abnormalities of the central nervous system; and certain characteristic abnormalities of the face and head.
	www.aghilham.com /typesofdiseases/nda.html (1135 words)

	Costello Syndrome
		Costello syndrome is a very rare disorder that affects multiple systems of the body, causing short stature, characteristic facial features, growths around the nose and mouth, and heart problems.
		The cause of Costello syndrome is not known, although genetic mutation is suspected.
		Diagnosis of Costello syndrome is based on the physical appearance of a child born with the disorder, as well as other symptoms that may be present.
	www.malattiemetaboliche.it /articoli/costello_syndrome.htm (458 words)

	About costello syndrome page 1 (Site not responding. Last check: 2007-10-29)
		The word syndrome is derived from the old Greek and merely means "running together." There are many thousands of syndromes in the medical literature and they often have the name of the first person to recognise that particular constellation of physical and behavioural and developmental characteristics are related with a common, even if unknown cause.
		Children with Costello Syndrome have normal birth weight, and may be large at birth with birth weights in the upper normal range.
		Children with Costello syndrome have normal birth weight, and may be large at birth with birth weights in the upper range.
	www.costellokids.co.uk /about.htm (251 words)

	Open Directory - Health:Conditions and Diseases:Genetic Disorders
		Costello Syndrome is an extremely rare disorder characterized by growth delay after birth (postnatal), leading to short stature; excessive, redundant loose skin on the neck, palms of the hands, fingers, and soles of the feet; development of benign (non-cancerous) growths (papillomata) around the mouth (perioral) and nostrils (nares); mental retardation; and/or characteristic facial appearance.
		Smith-Magenis Syndrome is a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), mental retardation, speech delays, and/or behavioral abnormalities.
		Usher syndrome is a rare inherited disorder primarily characterized by deafness due to an impaired ability of the auditory nerves to transmit sensory input to the brain (sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that causes progressive loss of vision.
	dmoz.org /Health/Conditions_and_Diseases/Genetic_Disorders/desc.html (2793 words)

	Medical Dictionary: Costello syndrome - WrongDiagnosis.com
		Costello syndrome: Retarded growth and mental development, coarse facies, nasal papillomata, cutis laxa of the hands and feet, and other abnormalities.
		Costello syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Costello syndrome, or a subtype of Costello syndrome, affects less than 200,000 people in the US population.
	www.wrongdiagnosis.com /medical/costello_syndrome.htm (210 words)

	Cardiofaciocutaneous Syndrome
		All patients diagnosed with CFC syndrome are believed to represent sporadic mutations (in which genetic changes occur randomly with no apparent cause) and are born to parents who are not blood relatives (non-consanguineous), have no history of genetic disease, and have apparently normal chromosomes.
		Noonan syndrome, a rare genetic disorder, is characterized by a distinctive facial appearance similar to that seen in children with Cardiofaciocutaneous syndrome, webbing of the neck, short stature, characteristic abnormalities of the chest, congenital heart defects, and/or other abnormalities.
		Costello syndrome is a rare genetic disorder characterized by growth delay after birth (postnatal), leading to short stature; a distinctive facial appearance; excessive, loose skin on the neck, palms of the hands, fingers, and soles of the feet; development of benign (non-cancerous) growths (papillomata) around the mouth (perioral) and nostrils (nares); and/or mental retardation.
	hw.healthdialog.com /kbase/nord/nord877.htm (2479 words)

	Rare Pediatric Disease Database (Site not responding. Last check: 2007-10-29)
		Individuals born with Costello syndrome have a characteristic face, grow slower than normal, and have mental retardation.
		Costello syndrome is an extremely rare disorder and the number of times it occurs in the population (incidence) is unknown.
		But most cases are thought to occur from a sporadically occurring alteration in a gene that is inherited by a child in a family with no previous history of Costello syndrome.
	www.madisonsfoundation.org /content/3/1/display.asp?did=267 (683 words)

	Costello Syndrome
		Costello syndrome is an extremely rare disorder that affects multiple organ systems of the body (multisystem disorder).
		Costello syndrome is characterized by growth delays after birth (postnatal) leading to short stature; excessive, redundant loose skin on the neck, palms of the hands, fingers, and soles of the feet; development of benign (non-cancerous) growths (papillomata) around the mouth (perioral) and nostrils (nares); mental retardation; and/or characteristic facial appearance.
		The exact cause of Costello syndrome is unknown.
	www.webmd.com /hw/health_guide_atoz/nord1081.asp (501 words)

	CFC International (Site not responding. Last check: 2007-10-29)
		All patients diagnosed with CFC syndrome are sporadic cases born to non-consanguineous parents and with no history of genetic disease.
		In the Costello syndrome, there is worse skin involvement with the presence of calluses on palms and soles, skin tags on the face, especially around the mouth and nose, periorificial papillomas; short Achilles tendons; scoliosis; radio-ulnar synostosis of the elbow, with ulnar deviation of the hands and a substantially increased risk of malignancy.
		CFC syndrome: A syndrome distinct from Noonan syndrome.
	www.cfcsyndrome.org /clinical-synopsis.htm (1680 words)

	BIO.COM: Biotechnology Pharmaceutical Therapeutics, Vaccines, Diagnostics, Discovery - Biotech, Pharma, Biomedical
		To confirm this connection and expand the understanding of the possible cause of Costello syndrome, researchers, led by Karen W. Gripp of A. DuPont Hospital for Children in Wilmington, Delaware, performed mutation analyses on 40 North American and European patients.
		Among the patients with Costello syndrome, "We detected missense mutations in HRAS in 33 (82.5%) patients," the authors report.
		The nature of the missense mutations, along with the paternal age effect observed in Costello syndrome suggests a paternal origin of the mutations, the researchers report.
	www.bio.com /newsfeatures/newsfeatures_research.jhtml?cid=15200031 (480 words)

	GeneDx :: Genetic Testing and Diagnosis Company
		Costello (FCS) syndrome is a rare, complex developmental disorder that clinically overlaps with Noonan syndrome and Cardio-Facio-Cutaneous (CFC) syndrome.
		It has been shown that 82%-92% of patients with Costello syndrome have a germline mutation in the HRAS gene on chromosome 11p13.3, encoding a member of the superfamily of small GTP-binding proteins.
		In Costello syndrome, mutation analysis of the HRAS gene is provided in two tiers.
	www.genedx.com /services/dis_cos.php (372 words)

	BBC - Health - Conditions - Costello syndrome
		Children with Costello syndrome are born with a normal or slightly high birth weight.
		The syndrome is likely to be caused by a single abnormal gene or a microdeletion - loss of a tiny part of one of the chromosomes.
		It appears to be more common among children born to older parents (both father and mother), in a pattern consistent with autosomal dominant inheritance with germline mosaicism (for example, some but not all of the parents' sperm or eggs carry the genetic problem).
	www.bbc.co.uk /health/conditions/costello1.shtml (475 words)

	UD Biological Sciences - Nemours: Dr. Katia Sol-Church
		Costello children have a greater incidence of heart defect (cardiomyopathy) and cancer (rhabdomyosarcoma).
		The pathogenesis and molecular basis of the syndrome are unknown and the diagnosis is solely based on the clinician expertise.
		The ultimate goal of this project is to gain a better understanding of this complex syndrome and, through correlating genotype and phenotype (disease presentation), to be able to better predict the course of the disease.
	www.udel.edu /bio/nemours/people/ksol-church.html (1179 words)

	Costello syndrome - Genetics Home Reference
		Costello syndrome is a disorder that affects many parts of the body.
		It remains unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division.
		This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
	ghr.nlm.nih.gov /condition=costellosyndrome (655 words)

	APSS Abstracts Search Results (Site not responding. Last check: 2007-10-29)
		Costello's Syndrome is a rare congenital malformative syndrome, whose features include, among the others, mental retardation and abnormalities in the craniofacial skeletal structures.
		We have studied sleep organization and nocturnal respiratory pattern in three in-patients affected by Costello's Syndrome, two females and one male, aged 5, 6 and 19.
		Our results suggest that Costello's Syndrome is a condition associated with a high incidence of sleep related respiratory disorders.
	www.websciences.org /cftemplate/apss97/indiv.dbm?ID=19979789 (287 words)

	Mutations in HRAS gene sequence confirmed in patients with Costello syndrome
		Gene mutations in the HRAS sequence are present in most patients affected with Costello syndrome.
		To confirm this connection and expand the understanding of the possible cause of Costello syndrome, researchers, led by Karen W. Gripp of A. DuPont Hospital for Children in Wilmington, performed mutation analyses on 40 North American and European patients.
		Among the patients with Costello syndrome, " We detected missense mutations in HRAS in 33 (82.5%) patients," the authors report.
	www.xagena.it /news/medicinenews_net_news/e735133a3cde8ee533d95d2150e869e5.html (449 words)

	ScienceDaily: Mutations In HRAS Gene Sequence Confirmed In Patients With Costello Syndrome
		Article: "HRAS Mutation Analysis in Costello Syndrome: Genotype and Phenotype Correlation." Gripp, Karen W.; Lin, Angela E.; Stabley, Deborah L.; Nicholson, Linda; Scott, Charles I, Jr.; Doyle, Daniel; Aoki, Yoko; Matsubara, Yoichi; Zackai, Elaine H.; Lapunzina, Pablo; Gonzalez-Meneses, Antonio; Holbrook, Jennifer; Agresta, Cynthia A.; Gonzalez, Iris L.; Sol-Church, Katia.
		Researchers At Yale Identify A Genetic Link To Tourette's Syndrome (October 13, 2005) -- In what may be a major milestone in Tourette's Syndrome (TS) research, scientists at Yale School of Medicine and their colleagues have identified a gene called SLITRK1 that appears to contribute to...
		Turner syndrome -- Turner syndrome is a human genetic abnormality, caused by a nondisjunction in the sex chromosomes that occurs in females (1 out of every 2,500 births).
	www.sciencedaily.com /releases/2005/12/051202092459.htm (1754 words)

	ORPHANET - About rare diseases - About orphan drugs (Site not responding. Last check: 2007-10-29)
		Costello syndrome is characterised by postnatal growth retardation, coarse facies, intellectual deficit, skin anomalies and cardiac abnormalities.
		The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyperpigmented skin are characteristic enough to allow an early diagnosis.
		Cardiac examinations should be performed to identify heart defects, and physical and occupational therapy are recommended.
	www.orpha.net /consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3071 (265 words)

	GeneDx :: Genetic Testing and Diagnosis Company
		CFC syndrome, mutation analysis of the BRAF and KRAS genes is available.
		Costello syndrome, 82%-92% of patients are expected to have a mutation in the HRAS gene.
		In Noonan syndrome, exons 3, 8, 9, and 13 are sequenced in the Tier 1 analysis.
	www.genedx.com /news.php (606 words)

	[No title]
		Costello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia.
		We report on two patients with Costello syndrome and persistent hyperinsulinemic hypoglycemia and review the endocrine manifestations of Costello syndrome.
		The mechanism of persistent hyperinsulinism in patients with Costello syndrome is unclear.
	www.genotropin.nu /upload/ghmi1206.doc (373 words)

	Costello syndrome
		Costello syndrome is a multiple congenital anomalies/mental retardation syndrome characterised by severe growth abnormalities and a predisposition to develop childhood tumours, especially rhabdomyosarcomas.
		Patients with Costello syndrome are prone to develop both benign and malignant tumours.
		Apart from mental retardation, the prognosis of patients with Costello syndrome depends mainly on the occurrence of cardiac and/or tumoral complications.
	atlasgeneticsoncology.org /Kprones/CostelloID10075.html (538 words)

	Studies on the pathogenesis of Costello syndrome -- Mancini et al. 40 (4): 37 -- Journal of Medical Genetics
		syndrome could be at the breakpoints of one of these two chromosomes.
		Second case of bladder carcinoma in a patient with Costello syndrome.
		The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
	jmg.bmjjournals.com /cgi/content/full/40/4/e37 (1819 words)

	COSTELLO SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and ...
		Costello syndrome (CS) is a rare genetic condition, first described in 1977 by Dr J M Costello.
		A number of syndromes including Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome, Simpson-Golabi-Behmel syndrome (SGB) and storage diseases especially Mucopolysaccharidosis (see entry, Mucopolysaccharide diseases and associated diseases), share certain features with CS and therefore need to be excluded in the process of making a diagnosis.
		The UK section of the International Costello Syndrome Support Group is a National Registered Charity No. 1085605 established in 2001.
	www.cafamily.org.uk /Direct/c74.html (927 words)

	Costello - Wikipedia, the free encyclopedia
		Big Joe Costello, Carroll legend whose nickname on his baseball team was Meals on Wheels
		John Costello, Irish barrister and former Taoiseach and Attorney-General of Ireland
		This is a disambiguation page: a list of articles associated with the same title.
	en.wikipedia.org /wiki/Costello (132 words)

	A case of Costello syndrome and glycogen storage disease type III -- Kaji et al. 39 (2): 8 -- Journal of Medical ...
		A case of Costello syndrome and glycogen storage disease type III -- Kaji et al.
		Costello syndrome may be situated on the long arm of chromosome
		Hypercalciuria and urolithiasis in a case of Costello syndrome.
	jmg.bmjjournals.com /cgi/content/full/39/2/e8 (1327 words)

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