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Topic: Char syndrome

	Rare Pediatric Disease Database (Site not responding. Last check: 2007-10-31)
		Char syndrome is very rare, with an unknown frequency in the general population.
		Char syndrome is inherited in an autosomal dominant fashion, meaning that only a single defective copy of the gene is needed for children to be affected.
		Children with Char syndrome generally live normal lives as long as their heart condition is repaired early in life.
	www.madisonsfoundation.org /content/3/1/display.asp?did=400 (436 words)

	Medical Dictionary: Char syndrome - WrongDiagnosis.com
		Char syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Char syndrome, or a subtype of Char syndrome, affects less than 200,000 people in the US population.
		They list Char syndrome as a "rare disease".
	www.wrongdiagnosis.com /medical/char_syndrome.htm (219 words)

	[No title]
		Oral-facial-digital (OFD) syndromes are a heterogeneous group of inherited syndromes that have in common anomalies of the face (median cleft lip), the tongue (bifid or lobulated tongue with harmartomas), and the digits (brachydactyly, polydactyly, syndactyly).
		Because this new syndrome closely resembled Char syndrome (patent ductus arteriosus, 5th finger middle phalangeal hypoplasia, and minor facial anomalies), multipoint linkage analysis was performed using polymorphic DNA markers spanning the recently identified Char syndrome critical region at chromosomal bands 6p12-p21.1.
		A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia.
	genetics.rusmedserv.com /add/article_23.html (16406 words)

	Report on the Rare Diseases and Conditions Research Activities of the NIH 1999 - National Institute of Child Health and ... (Site not responding. Last check: 2007-10-31)
		Char syndrome is a heart-hand disorder comprising patent ductus arteriosus (PDA), abnormal fifth digits on the hands, and facial dysmorphism.
		Among genetic disorders with heart defects, Char syndrome is unusual in having PDA as the dominant heart lesion, suggesting a role for its disease gene as participating in aortic arch development.
		Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/mental retardation syndrome characterized by prenatal onset of growth retardation and craniofacial, limb, genital, and internal organ abnormalities.
	rarediseases.info.nih.gov /html/reports/fy1999/nichd.html (2367 words)

	The genetic background of left ventricular outflow tract abnormalities
		Tbx1 mutations are responsible for 5 major phenotypes of the 22q11 syndrome, namely, abnormal facies, cardiac defects, thymic hypoplasia, velopharyngeal insufficiency of the cleft palate, and parathyroid dysfunction with hypocalcemia; these mutations did not appear to be responsible for typical mental retardation that is commonly seen in patients with the deletion form of 22q11 syndrome.
		Char syndrome is a rare disorder characterized by patent ductus arteriosus and craniofacial abnormalities.
		Marfan syndrome is caused by mutations in the Fibrillin 1 gene (FBN1).
	www.kinderhart.be /symposium/debacker.htm (1850 words)

	HEC Tutorial by Charles Michael Heard
		Because the shift register is linear, what remains in the shift register when there are errors is the remainder that would be present if only the error polynomial (with coefficients in error positions) were applied at the input.
		Then the syndrome which remains in the register at the end will be just what would be in the register after M shifts starting with '1' in the x^0 position and '0' elsewhere.
		If a single error occurs at bit position M < N then the syndrome which remains in the register at the end will be the odd parity pattern which would result from cycling the register M times starting from the state represented by the polynomial 1.
	suresh_kr.tripod.com /32bitCRC_tutorial.html (1294 words)

	Char syndrome
		Char syndrome is an autosomal dominant trait characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
		The prevalence of Char syndrome has not been determined but is thought to be quite low.
		Char syndrome is known to be associated with mutations in the TFAP2B gene.
	www.orpha.net /static/GB/char_syndrome.html (379 words)

	Char Syndrome, an Inherited Disorder With Patent Ductus Arteriosus, Maps to Chromosome 6p12-p21 -- Satoda et al. 99 ...
		The Arkansas family was expanded from the original description by Char in which individual ARK V-16 was the proband.
		A recombinant event observed in ARK V-18 defined the centromeric boundary of the Char syndrome locus, whereas recombinant events in ARK V-15 and MINN V-3 defined the telomeric boundary.
		By use of haplotype analysis, the Char syndrome critical region was assigned to a 3.1-cM interval.
	circ.ahajournals.org /cgi/content/full/99/23/3036 (3110 words)

	Yearbook 00 (Site not responding. Last check: 2007-10-31)
		Char Syndrome is an autosomal dominant trait characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand defects.
		The purpose of this study was to document the degree of molecular heterogenicity underlying this trait and to correlate genotype with phenotype.
		Analysis of eight unrelated Char syndrome patients resulted in the identification of novel mutations in four.
	www.charite.de /bbeo/bmep/00/weisma.htm (362 words)

	[No title]
		Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins.
		Joubert syndrome is an autosomal recessive brain congenital malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles.
		Turcot syndrome is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas.
	pevsnerlab.kennedykrieger.org /flatfiles/swissprot-output-10.txt (20300 words)

	Character Deficiency Syndrome
		Together they constitute a syndrome because they present a clear, diagnosable pattern of behaviors, all connected in a downward spiral.
		We call it Character Deficiency Syndrome because (1) the problem of folly is about moral weakness, and (2) because it consists of degenerative stages, in a definite sequence, with identifiable symptoms.
		We have tracked the stages of Character Deficiency Syndrome from its latent stages in the Naive Fool, through its increasing virulence in the Self-Confident Fool, to its degradations in the Committed Fool and the Shameless Fool.
	www.leaderu.com /orgs/probe/docs/char-def.html (2585 words)

	Developmental and genetic diseases
		Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome [4])
		Cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia (Yunis-Varon syndrome [1])
		Corpus callosum agenesis with chorioretinal abnormality (Aicardi syndrome [16])
	www.gfmer.ch /genetic_diseases_v2/index.php?disinit=C (1656 words)

	UNSW Embryology-OMIM Patent Ductus Arteriosus
		Pierpoint and Sletten (1994) used the eponym Char syndrome for familial PDA with unusual facial features, including long philtrum, down slanting palpebral fissures, and thick lips.
		They pointed to the syndrome reported by Char (1978) in which patent ductus arteriosus was associated with a much more unusual facies with short philtrum, duck-bill lips, ptosis, and low-set ears.
		Temple (1992) also described this syndrome, referring to it as Char syndrome.
	embryology.med.unsw.edu.au /OMIMfind/heart/OMIM-169100.htm (622 words)

	Coats' syndrome: long term follow up -- Char 84 (1): 37 -- British Journal of Ophthalmology
		Coats' syndrome has been a subject of controversy since the first description of this retinal vascular abnormality in 1908.
		Coats' syndrome has a mean age of diagnosis, in most series, of approximately 9 years.
		The natural history of an individual patient with Coats' syndrome is difficult to predict and depends partially upon age.
	bjo.bmjjournals.com /cgi/content/full/84/1/37 (1779 words)

	Dry Eye Syndrome and the Cavalier King Charles Spaniel
		A rarer but far more severe form of dry eye syndrome in some Cavalier puppies is a combination of dry eye and a congenital skin condition called "curly coat" or "rough coat" syndrome (ichthyosis keratoconjunctivitis sicca).
		In cases of curly coat (rough coat) syndrome, nearly continuous daily care, including very frequent medicinal bathing, is required to treat the skin condition, as well as applying the eye medications.
		Barnett reported that the need for constant care of the eyes and skin may lead breeders to resort to early euthanasia of the affected puppies as the only humane result, to avoid the dogs suffering from lifetimes of extreme discomfort and permanent eye damage.
	www.cavalierhealth.org /dry_eye.htm (1271 words)

	[No title]
		Q01484 1425 1425 E -> G (in sick sinus syndrome with bradychardia; loss of function).
		Q01484 3707 3707 L -> I (in sick sinus syndrome with bradychardia; loss of function).
		Q01484 3873 3873 R -> W (in sick sinus syndrome with bradychardia; loss of function).
	pevsnerlab.kennedykrieger.org /flatfiles/swissprot-output-14.txt (28371 words)

	Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus - Nature Genetics
		Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus
		Char syndrome is an autosomal dominant trait characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies.
		Using a positional candidacy strategy, we mapped TFAP2B, encoding a transcription factor expressed in neural crest cells, to the Char syndrome critical region and identified missense mutations altering conserved residues in two affected families.
	www.nature.com /doifinder/10.1038/75578 (213 words)

	LGR - HEC_GENERATOR Code
		/* Generate the error position table as a function of the syndrome.
		syndrome = syndrome_table [ syndrome ^ cell_header[i] ];
		static unsigned char prototype_hdr[5] = { 0x0f, 0xff, 0xff, 0x02, 0x75};
	www.packet.cc /files/HEC-code.html (441 words)

	Buddy Walk
		To obtain a sponsorship packet, please contact Char at dsawm@iserv.net or (616) 957-4934.
		Contact Char Hill at dsawm@iserv.net or (616) 957-4934 to sign-up.
		The goal of the Buddy Walk is to promote understanding and acceptance of people with Down syndrome.
	www.dsawm.org /BuddyWalk.htm (479 words)

	ORPHANET - About rare diseases - About orphan drugs
		Rare families have been described in which the mode of inheritance appears to follow a dominant or recessive pattern of inheritance in the absence of any associated abnormalities.
		Familial incidence of patent arterial duct has also been linked to certain syndromes and associations, including Char syndrome, familial thoracic aortic aneurysm/dissection associated with patent arterial duct, and familial patent arterial duct and bicuspid aortic valve associated with hand abnormalities.
		Patency of the arterial duct is recognised on detection of the characteristic heart murmur.
	www.orpha.net /consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=706 (275 words)

	Ellis-vanCreveld Syndrome1999-2029 (sep)
		In the autosomal dominant Holt-Oram syndrome, both atrial and ventricular septal defects are inherited in association with limb deformity as a result of mutations in the gene encoding the TBX5 transcription factor.
		Common atrial syndromes in autosomal dominant Ellis-van Creveld syndrome arise in the context of axial skeletal and limb malformation as a result of mutations in the EVC gene, whose function is unknown.
		Recent analyses of autosomal dominant Char syndrome, which includes, with variable penetrance, patent ductus arteriosus as well as craniofacial and hand malformations, have shown that the syndrome is caused by mutations in the TFAP2B transcription factor gene.
	www.indiana.edu /~pietsch/ellis-vancreveld9902.html (3810 words)

	TFAP2B-dependent functions may be implicated in the normal regulation of sleep : Epilepsy.com
		According to scientists in the United States, "Patent ductus arteriosus (PDA) is a common congenital heart disease that results when the ductus arteriosus, a muscular artery, fails to remodel and close after birth.
		A syndromic form of this disorder, Char syndrome, is caused by mutation in TFAP2B, the gene encoding a neural crest-derived transcription factor."
		Mani and colleagues published their study in Proceedings of the National Academy of Sciences of the United States of America (Syndromic patent ductus arteriosus: Evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.
	www.epilepsy.com /newsfeed/pr_1115645412.html (453 words)

	Cacophobia - (Site not responding. Last check: 2007-10-31)
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
		Sometimes the term is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
		The subject of systematic classification of diseases is referred to as nosology.
	www.medicalgeo.com /Med-Diseases-C---Ch/Cacophobia.html (237 words)

	what is hinman syndrome (Site not responding. Last check: 2007-10-31)
		Questions in the Urology Forum have been answered by Dr. Kevin Pho, (who is board certified in Internal Medicine) and by urologists from Henry Ford Health System.
		could you please supply me with some information on hinman syndrome ie what is it what are the symptons,how to treat
		Hinman syndrome describes a voiding dysfunction that is believed to be an acquired condition usually seen and diagnosed in the pediatric population.
	www.medhelp.org /perl6/urology/messages/30294a.html (402 words)

	Gmane -- Mail To News And Back Again
		The rest is simply to convert the disk on chip - * syndrom into a standard syndom.
		Make sure this is something larger than a char if - * if anything larger than GF(256) is used.
		- * - * Note: unsigned char will work up to GF(256) but int seems to run - * faster on the Pentium.
	article.gmane.org /gmane.linux.kernel/418123 (838 words)

	D0Code/l3xsbc_distrib/linux/drivers/mtd/devices/doc2001.c (Site not responding. Last check: 2007-10-31)
		Each of 4 delay cycles (read from the NOP register) is 102 required after writing to CDSN Control register, see Software Requirement 11.4 item 3.
		Each of 4 delay cycles (read from the NOP register) is 122 required after writing to CDSN Control register, see Software Requirement 11.4 item 3.
		May not be necessary, but do it just to 315 * be safe.
	www-d0.fnal.gov /D0Code/source/l3xsbc_distrib/linux/drivers/mtd/devices/doc2001.c (806 words)

	Kidô senshi Gandamu: Gyakushû no Shâ (1988) (Site not responding. Last check: 2007-10-31)
		Plot Outline: Amuro Ray and Char Aznable settle their rivalry once and for all during the Second Neo Zeon War.
		Trivia: The bright, multicolored (and apparently cobbled-together) Zaku Mobile Suit that makes its appearance inside the colony is called a 'Hobby Zack', a reference to the legions of fans who make and modify Gundam model kits- often using parts and colors not part of the original design.
		The movie adaptation of "Char's Counterattack: Beltorchika's Children", follows the novel almost to the letter.
	us.imdb.com /Title?0095262 (366 words)

	Report on the Rare Diseases and Conditions Research Activities of the NIH 1999 - Index - Office of Rare Diseases (Site not responding. Last check: 2007-10-31)
		Bloom's syndrome NIA 1, NIGMS 1, NIGMS 2
		Cerebellar ataxia syndrome of early onset, hereditary NIDCD 1
		Congenital heart block (CHB) in neonatal lupus syndromes NHLBI 1, NHLBI 2
	rarediseases.info.nih.gov /html/reports/fy1999/rept-index.html (250 words)

	Dorlands Medical Dictionary
		(chahr´kōl) carbon prepared by charring wood or other organic material.
		agnus-castus, used for the symptomatic treatment of premenstrual syndrome and menopause; it is also used in homeopathy.
		French surgeon who practiced in Avignon; Chirurgia magna, his treatise on surgery, was regarded as a standard work until Paré's time.
	www.mercksource.com /pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszSzcommonzSzdorlandszSzdorlandzSzdmd_c_24zPzhtm (1790 words)

	Birth Disorder Information Directory - CA-CL
		Cantrell Haller Ravitsch Syndrome (Cantrell Pentalogy, Thoracoabdominal Syndrome)
		PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
		Paroxysmal (Choreoathetosis, Nonkinesigenic; Dystonia 8; Mount Reback Syndrome; Paroxysmal Dystonic Choreoathetosis; Paroxysmal Non-Kinesigenic Dyskinesia)
	www.bdid.com /defectca.htm (705 words)

	GEMdatabase - Browse Titles
		The hereditary disease section includes: colorectal cancer syndromes, breast and ovarian cancer, multiple neoplasia type 2 and many more.
		This summary is evidence-based; it is peer-reviewed by the PDQ editorial board.
		This review focuses on the diagnosis, management, and genetic counseling of patients and families with Char syndrome.
	www.gemdatabase.org /GEMDatabase/BrowseTitles.asp?curpage=7 (962 words)

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