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Topic: Eec syndrome

	EEC1 - ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1
		EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.
		EEC syndrome is a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal limb anomaly, cleft lip and palate and ocular adnexia anomalies.
		EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts.
	www.ihop-net.org /UniPub/iHOP/gi/87882.html (3968 words)

	Medical Dictionary: EEC syndrome - WrongDiagnosis.com
		EEC syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that EEC syndrome, or a subtype of EEC syndrome, affects less than 200,000 people in the US population.
		They list EEC syndrome as a "rare disease".
	www.wrongdiagnosis.com /medical/eec_syndrome.htm (189 words)

	CASE 4 (Site not responding. Last check: 2007-10-25)
		Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare, autosomal dominant disorder attributed to mutations in the gene encoding for p63, a tumor-suppressor protein.
		Despite the term ectodermal dysplasia in the name, EEC syndrome is characterized by multiple congenital anomalies due to involvement of both ectodermal and non-ectodermal tissues.
		Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
	www.med.wayne.edu /dermatology/MichDerm03/case_4diagnosis.htm (412 words)

	eMedicine - Ectodermal Dysplasia : Article by Kara N Shah, MD, PhD
		EEC syndrome and other related ectrodactyly syndromes (eg, acro-dermato-ungual-lacrimal-tooth [ADULT] syndrome and limb-mammary syndrome) are usually recognized at birth as a result of the characteristic limb deformities.
		AEC (Hay-Wells) syndrome, Rapp-Hodgkin syndrome, and EEC syndrome are all caused by mutations in the TP63 gene.
		Limb-mammary syndrome is caused by mutations in the TP63 gene.
	www.emedicine.com /derm/topic114.htm (3825 words)

	The p63 gene in EEC and other syndromes -- Brunner et al. 39 (6): 377 -- Journal of Medical Genetics
		EEC syndrome, the frequent mammary gland abnormalities and the
		EEC syndrome, notably the Bowen-Armstrong syndrome of recessively
		from EEC syndrome by the absence of facial clefting.
	jmg.bmjjournals.com /cgi/content/full/39/6/377 (3112 words)

	NYU SoM - Dept. of Dermatology
		EEC syndrome is characterized by ectrodactyly (abnormal development of the median rays of the hands and feet) whereas AEC syndrome generally presents with a collodion-like membrane at birth and ankyloblepharon filiforme adenatum (strands of skin between the eyelids).
		The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.
		Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
	www.med.nyu.edu /dermatology/sem_conf/051804-8.html (813 words)

	Rapp Hodgkin Syndrome
		Rapp-Hodgkin Syndrome, an extremely rare inherited multisystem disorder that is apparent at birth (congenital) or during infancy, belongs to a group of diseases known as ectodermal dysplasias.
		Rapp-Hodgkin syndrome is characterized by a reduced ability to sweat (hypohidrosis); an incomplete closure of the roof of the mouth (cleft palate) and/or an abnormal groove in the upper lip (cleft lip); partial or complete absence (hypodontia or partial anodontia) and/or abnormal smallness (microdontia) of primary and secondary (permanent) teeth.
		Rapp-Hodgkin syndrome is characterized by an impaired ability or lack of ability to sweat (hypohidrosis or anhidrosis) due to a reduced number of sweat glands and/or pores in the skin.
	hw.healthdialog.com /kbase/nord/nord715.htm (2673 words)

	[No title] (Site not responding. Last check: 2007-10-25)
		EEC syndrome is a developmental disorder characterized by Ectrodactyly, Ectodermal dysplasia, and facial Clefting.
		The majority of mutations in EEC syndrome are amino acid substitutions in the DNA binding domain and affect transactivational properties of p63.
		Opitz syndrome is a genetically heterogeneous disorder characterized by abnormal closure of ventral midline structures.
	mail.medacad.org /www.ichg2001.org/abstracts/conc.htm (11714 words)

	[No title]
		The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare disease which follows an autosomal-dominant pattern of inheritance.
		The penetrance of the EEC-mutation is estimated to be between 93% and 98%.The EEC syndrome: A literature study.
		The Rapp- Hodgkin type of ectodermal dysplasia and EEC syndrome, both defined as autosomal dominant conditions with variable expression, may be manifestations of the same mutated gene (Moerman et al.
	malattierare.pediatria.unipd.it /pubblicaMR/mr_dx_ing.asp?mr=133 (1069 words)

	Gene expression in tooth, note
		The characteristics of EEC syndrome are ectrodactyly of the hands and feet, ectodermal dysplasia, and cleft lip and/or palate (Gorlin et al, 1990).
		Buss (Buss et al, 1995) reported dental features of 24 patients with EEC syndrome: The permanent dentitions of all patients were affected with oligodontia and microdontia.
		EEC1 syndrome is associated with chromosome 7 (7q11.2-q21.3) (Qumsiyeh, 1992).
	bite-it.helsinki.fi /LN9.HTM (632 words)

	Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
		The most common symptoms found in patients with EEC Syndrome are: missing or irregular fingers and/or toes (ectrodactyly), abnormalities of the hair and glands, cleft lip and/or palate, or unusual facial features, as well as abnormalities of the eyes and urinary tract.
		Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer.
		Rapp-Hodgkins Syndrome is a rare form of ectodermal dysplasia inherited as an autosomal dominant genetic trait.
	hw.healthdialog.com /kbase/nord/nord935.htm (1648 words)

	Rapp-Hodgkin syndrome
		The clinical presentation of ectodermal dysplasia with cleft palate was consistent with Rapp-Hodgkin syndrome, which is one of several allelic diseases associated with mutations in the TP63 gene.
		Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome.
		Dianzani I, Garelli E, Gustavsson P, Carando A, Gustafsson B, Dahl N, Anneren G. Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
	dermatology.cdlib.org /103/NYU/case_presentations/051804n8.html (824 words)

	EEC
		Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome is a type of ED in which there is congenital absence of some of the fingers or toes, features of ED, and cleft lip or palate.
		The EEC syndrome is a group of autosomal dominant disorders that resemble one another.
		The gene for the EEC syndrome is located on chromosome 7.
	www.nfed.org /EEC.htm (292 words)

	Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63 -- Duijf et ...
		EEC syndrome are caused by missense mutations in the DNA binding
		EEC syndrome cases is due to missense mutations in the DNA binding
		(1999) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
	hmg.oxfordjournals.org /cgi/content/full/11/7/799 (3655 words)

	Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts -- Barrow et ...
		Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts -- Barrow et al.
		EEC syndrome is an autosomal dominant disorder with the cardinal
		Fukushima Y, Ohashi H, Hasegawa T. The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization.
	jmg.bmjjournals.com /cgi/content/full/39/8/559 (4375 words)

	DermAtlas: Dermatology Image hay_wells_syndrome_1_050110 (Hay-Wells syndrome - genodermatosis/genetic disorder) ...
		Germline mutations in TP63, a homologue of the tumor suppressor TP53, are responsible for AEC syndrome.
		AEC mutations cluster in the SAM region of p63 and are thought to disrupt protein-protein interactions, while EEC mutations occur in the DNA binding domains of the protein and are expected to affect transcriptional activity of the protein.
		Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
	dermatlas.med.jhmi.edu /derm/Display.cfm?ImageID=1105414986 (551 words)

	Elizabeth and E.E.C. syndrome (arts34.htm) (Site not responding. Last check: 2007-10-25)
		Elizabeth was born with the EEC syndrome after a pregnancy of no particular nature.
		The main features of the EEC syndrome (ectrodactylly ectodermal dysplasia - clefting syndrome), which is a dominant autosomal condition with multiple and variable expressions, are the following :
		Our daughter is carrier of the EEC syndrome, of which the nature is the EEC3 syndrome.
	www.ectodermaldysplasia.org /arts34.htm (494 words)

	Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
		Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, Hay-Wells syndrome (also called ankyloblepharon-ectodermal dysplasia-clefting, or AEC, syndrome), and isolated split-hand/foot malformation (SHFM) are variable autosomal dominant disorders that can be caused by mutations in the gene P63 (TP63, TP73L) localized to 3q27.
		Persons with EEC syndrome have split-hand/foot malformation, ectodermal dysplasia (abnormal hair, teeth, skin, nails, and/or lacrimal ducts), and cleft lip/palate.
		Persons with AEC syndrome have ectodermal dysplasia, cleft lip/palate, and congenital adhesions between the eyelids.
	www.ggc.org /Diagnostics/Molecular/Ectrodactyly.htm (309 words)

	The Gene Letter by GeneSage - Archives (Site not responding. Last check: 2007-10-25)
		The authors had previously mapped a similar condition (limb mammary syndrome [LM]) to chromosome 3q27 in a large Dutch pedigree.
		Linkage analysis and physical mapping using several families with EEC showed that the EEC gene is found near the LM locus (suggesting that EEC and LM are allelic disorders), and a single candidate gene, p63, was identified.
		COMMENT: p63, like p53 (the extensively studied tumor suppressor gene that is dysfunctional in some cancer families), appears to regulate genes by encoding a DNA binding protein.
	www.genesage.com /professionals/geneletter/journalwatch/eec.html (347 words)

	Living with EEC (xrts22.htm) (Site not responding. Last check: 2007-10-25)
		I was born with Ectrodactyly Ectodermal Dysplasia which is known as EEC Syndrome and which is a lot easier to say!
		I was amazed at the amount of things which are connected to EEC such as my hair, which is very dry and thick, my teeth, nails, skin, and I was even told the freckles on my nose are connected to EEC.
		But now I feel I should be more open to people about my syndrome and if they can't accept it then they are not worth even knowing and it's their loss.
	www.ectodermaldysplasia.org /text/xrts22.htm (526 words)

	MOLECULAR AND GENETIC ANALYSIS OF THE EEC SYNDROME
		In this application, studies are proposed to further refine the EEC locus by a molecular analysis of the chromosome 7q21-22 target region in sporadic and familial EEC patients.
		At the same time, the technique of solution hybrid capture will be used to isolate candidate EEC genes from the target region.
		It will then be determined if markers in the EEC critical region demonstrate linkage to these other types of ED-related families.
	www.med.unc.edu /wrkunits/1dean/research/Weissman426.html (399 words)

	The 11-14-week scan - Chapter 2.17 (Site not responding. Last check: 2007-10-25)
		In the studies reporting on chromosomally normal fetuses with increased nuchal translucency (Table 1), there was one case with the condition
		Additionally, there is one case report of EEC syndrome presenting with increased nuchal translucency, oligodactyly and umbilical cord cyst at 14 weeks; after termination of pregnancy, pathological examination demonstrated coarctation of the aorta
		There is another case report on the early diagnosis of the syndrome, but the study does not comment on nuchal translucency measurement; routine ultrasound examination at 14 weeks demonstrated lobster-claw deformities of the hands and feet and facial clefting
	www.fetalmedicine.com /11-14scanbook/Chapter2/chap02-17.htm (172 words)

	Rapp Hodgkin's Syndrome
		The Rapp-Hodgkin syndrome (RHS) is another type of ED associated with cleft lip and palate; in this way, RHS is similar to the EEC syndrome and the AEC syndrome.
		Problems with sweating in RHS are not as severe as in the CST syndrome, and some affected people sweat through their scalp.
		Not everyone with RHS shows the same pattern of features; some people may be very mildly affected or not even have one or another of the features that constitute the syndrome.
	www.nfed.org /RappHodgkins.htm (226 words)

	Sanubio (Site not responding. Last check: 2007-10-25)
		Synonyms Ectrodactyly Ectodermal Clefting Syndrome EEC Syndrome Disorder None General Discussion Ectrodactyly Ectodermal Cleft Lip Palate EEC Syndrome.
		Savvas 2004 MRI evaluation of abnormalities in children with Sturge syndrome.
		The fundamental abnormality in the Weber syndrome SWS is considered be the lack of superficial draining veins, which results in collateral.
	www.sanubio.com (1934 words)

	DNA-Binding and Transactivation Activities Are Essential for TAp63 Protein Degradation -- Ying et al. 25 (14): 6154 -- ...
		syndrome and SHFM, the germ line mutations in the p63 gene are
		in several dominant human syndromes are highly stable.
		Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans.
	mcb.asm.org /cgi/content/full/25/14/6154 (4487 words)

	Bioline International Official Site (site up-dated regularly)
		The combination of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (EEC syndrome) is a rare type of congenital anomaly.
		It usually occurs as an autosomal-dominant trait or less commonly in a sporadic form.
		In this complex, multiple congenital anomaly syndrome, any of the three cardinal manifestations may present with variable expressions.
	www.bioline.org.br /abstract?id=dv06013 (107 words)

	h34lth.com Ectodermal Dysplasia Medical Directory
		Synonyms None Disorder Rapp-Hodgkin Hypohidrotic Ectodermal Dysplasias Nail Syndrome Anodontia Robertson's Ectodermal Dysplasias Christ-Siemans-Touraine Oral-Facial-Digital Syndrome (Type I) Ellis-van Creveld Palmoplantar Hyperkeratosis...
		syndrome (or hidrotic ectodermal dysplasia) is rare disease that affects one in 000 subjects.
		Anhidrotic Ectodermal Dysplasia Christ-Siemens-Touraine Syndrome CST Syndrome EDA HED disorder
	h34lth.com /health/id_3781p.php (495 words)

	EEC syndrome 2
		Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2
		Syndromic Ectrodactyly with Severe Limb, Ectodermal, Urogenital, and Palatal Defects Maps to Chromosome 19
		Propose a link / Report a dead link :
	www.gfmer.ch /genetic_diseases_v2/gendis_detail_list.php?cat3=653 (31 words)

	[No title]
		Turcot syndrome with glioblastoma 276300 (3); Colorectal cancer
		Pendred syndrome (3); Deafness autosomal recessive 4 600791 (3);
		Spinal muscular atrophy distal with upper limb predominance
	www.fortunecity.com /skyscraper/epson/1227/genetics/chromo7.htm (369 words)

	DermAtlas: Dermatology Image hay_wells_syndrome_3_050110 (Hay-Wells syndrome - genodermatosis/genetic disorder) ... (Site not responding. Last check: 2007-10-25)
		DermAtlas: Dermatology Image hay_wells_syndrome_3_050110 (Hay-Wells syndrome - genodermatosis/genetic disorder) [dermatlas]
		HAY-WELLS SYNDROME / AEC (ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT PALATE) SYNDROME
		At birth, the patient demonstrated ankyloblepharon, erosive scalp dermatitis, hyponychia, hypoplastic nipples, webbed penis, and cleft palate without cleft lip.
	dermatlas.med.jhmi.edu /derm/Display.cfm?ImageID=1856246774 (540 words)

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