61. Acrocephalopolysyndactyly (Carpenter's Syndrome) Case study (includes photos, ultrasounds, MRIs); Type I (apert syndrome,Noack Syndrome) apert syndrome; apert syndrome; apert syndrome; http://www.bdid.com/acrocephalopolysyndactyly.htm

HOME Acrocephalopolysyndactyly (Carpenter's Syndrome) Acrocephalopolysyndactyly Carpenter Syndrome Acrocephalopolysyndactyly (includes photos, ultrasounds Case study (includes photos, ultrasounds, MRIs) Type I (Apert Syndrome, Noack Syndrome) Apert Syndrome APERT SYNDROME APERT SYNDROME APERT SYNDROME ... Apert Syndrome Type II Type II Ben has Acrocephalopolysyndactyly Type 2 Type II Type III (Sakati Syndrome, Sakati-Nyhan Syndrome) Type III CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY Cutis laxa osteoporosis Type IV (Goodman Syndrome) Goodman Syndrome Type IV Type IV Goodman Syndrome Type V (Pfeiffer Syndrome) Pfeiffer Syndrome Type I Acrocephalopolysyndactyly (includes photos, ultrasounds Pfeiffer Syndrome Robinow-Sorauf Type (Craniosynostosis-Bifid Hallux Syndrome) ROBINOW-SORAUF SYNDROME Summitt Symdrome Summitt Symdrome HOME

62. Apert Syndrome Tips for printing. apert syndrome Acrocephalosyndactyly Special ResourcesSOS Ask experts or consultants for information apert syndrome. http://ibis-birthdefects.org/start/apert.htm

Tips for printing Apert Syndrome - Acrocephalosyndactyly About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Crouzon Disease Support Groups Professional Associations Key Information Sources Contents include Titles above and Acrocephalosyndactyly I, II ACS I Special Resources Apert Syndrome Apert Syndrome from OMIM Gene Map Locus: 10q26 The Apert Listserv ... Our listserv is hosted free of charge on America Online's server using L - Soft listserv software. The name of the list is "Apert" ... Search this site powered by FreeFind This site offers information mostly for educational purposes. This site is not intended to alter health care protocols nor to serve as a sole source of medical information. Please read full Always seek the advice of your local health care provider. Sponsor: I.B.I.S. Site Concept: W. W., D. C. Page Content: W. Wertelecki, M. D. Email: Webmaster 21/January/2002 dc

63. Health Consumer Support Groups Facial Differences Apert Syndrome Polish Yellow P Health Consumer Support Groups Facial Differencesapert syndrome 58493 Polish Yellow Pages YP.pl. http://www.yellowpages.pl/ca/58493/Health/Consumer_Support_Groups/Facial_Differe

>English Version Polskie Firmy: Firmy wg SIC Szukaj firmy Szukaj w Internecie: Polska ¦wiat Katalog Stron Biznes Serwisy YellowPages: Rejestracja DOMEN Strony WWW DNS ZOOM ... Sklep Partner idealo.de NETSPRINT Reporter.pl Portofolio DVD Search TOP CHARTS Webkatalog Multi szukanie - mainSeek Polska - Netsprint ¦wiatowy Katalog Stron Katalog Firm Teleadreson Szukaj domeny TOP Health Andrew's Journey with Apert's - Written by father of child with Apert syndrome. Contains biographical detail, and links to Apert syndrome stories and support sites. Apert Syndrome - Produced by Alliance of Genetic Support, this includes comprehensive information about the condition, an Apert listserve, newsgroup, links, webring and family homepages. Apert Syndrome - Resource for contacts, chat rooms, pen pals and other relevant links. Apert Syndrome - Frequently asked questions and answers on Apert syndrome. Apert Syndrome Information Site - Information about Apert syndrome from ApertInfo.com Krista's Page - Written by her father, this contains biographical detail about living with Apert syndrome. Swedish Apert Syndrome Information - General information about Apert syndrome with photographs of people with the condition. English version follows Swedish text.

64. University Of Miami School Of Medicine - Glossary - Apert Syndrome Medical Dictionary. apert syndrome. apert syndrome The bestknowntype of acrocephalosyndactyly is apert syndrome which is due to http://www.med.miami.edu/patients/glossary/art.asp?articlekey=6575

65. University Of Miami School Of Medicine - Glossary - Apert Syndrome Acrocephalosy apert syndrome acrocephalosyndactyly. apert syndrome acrocephalosyndactyly An inheriteddisorder causing abnormalities of the skull, face and hands and feet. http://www.med.miami.edu/patients/glossary/art.asp?articlekey=6605

66. Hospital Links apert syndrome. Back. apert syndrome is one of the craniofacial conditionsthat fall into the group called craniofacial dysostosis syndromes. http://headlines.org.uk/Aperts.htm

Apert Syndrome Back Contact one of the UK Supra Regional Hospitals for more information APERT syndrome is one of the craniofacial conditions that fall into the group called craniofacial dysostosis syndromes. It was first described in the early 1900's by the French paediatrician Eugene Apert. Apert's syndrome predominantly affects the head, face and limbs. Apert's syndrome presents with a number of typical features. The child with Apert's syndrome usually enters a co-ordinated programme of care involving many different clinical specialities integrating the various expertises. Common features regressed mid-face and shallow orbits (eye sockets), this may result in a small or constricted airway and the appearance of a large lower jaw. Seen from the side the face has a concave appearance and the shallow orbits result in prominent eyeballs (proptosis), arrangement of teeth (dentition) is also affected. the abnormal skull shape may result in raised intracranial pressure and require surgery to protect the restricted brain. fusion of fingers and toes ( syndactyly ) this can vary from fusion of the centre three digits to complete fusion of the bones and nails of all five digits.

67. Support Material Reconstructive Surgery. B1 'Hands and feet in the apert syndrome', Cohenet al, AJOMG 578296 (1995). B2 'Craniosynostoses Phenotypic http://headlines.org.uk/Medical.htm

Medical and Surgical Articles: Abbreviations used in the List AJOHG American Journal of Human Genetics AJOMG American Journal of medical Genetics BJHM British Journal of Hospital Medicine BJON British Journal of Neurosurgery CP Current Paediatric HMG Human Molecular Genetics JCGDB Journal of Craniofacial Genetics and Development Biology JOCMFS Journal of Cranio-Maxillo-Facial Surgery JofN Journal of Neurosurgery JOMG Journal of Medical Genetics MG Medical Genetics NCNA Neurosurgery Clinics of North America NG Nature Genetics PRS Plastic and Reconstructive Surgery 'Hands and feet in the Apert Syndrome', Cohen et al, AJOMG 57:82-96 (1995). 'Craniosynostoses: Phenotypic/Molecular Correlations', Cohen, AJOMG 56:334-339 (1995). 'Craniosynostosis Update 1987', Cohen, AJOMG Supplement 4:99-148 (1988), [short term loan only] 'Pfeiffer Syndrome Update, Clinical subtypes, and guidelines for differential diagnosis', Cohen, AJOMG 45:300-307 (1993). 'Visceral Anomalies in the Apert Syndrome', Cohen et al, AJOMG 45:758-760 (1993). 'Growth Pattern in the Apert Syndrome', Cohen et al, AJOMG 47:617-623 (1993).

68. Avera Health - Apert Syndrome apert syndrome. Definition A genetic test for mutations in the fibroblast growthfactor receptor 2 gene can confirm the diagnosis of apert syndrome. http://www.avera.org/adam/ency/article/001581.htm

Disease Injury Nutrition Poison ... Syndactyly Apert syndrome Definition: A genetic disease which may be inherited or may occur without a known family history. It is characterized by premature closure of cranial sutures (seams between skull bones), which results in a peaked head and an unusual facial appearance. Alternative Names: Acrocephalosyndactyly Causes, incidence, and risk factors: Apert syndrome is transmitted as an autosomal dominant trait (which means that only one parent needs to have the condition for a child to potentially be affected). Some cases also appear spontaneously without a family history. The condition is caused by mutations in a gene called fibroblast growth factor receptor 2. This mutation causes some of the bony sutures of the skull close prematurely (a process called craniosynostosis) which can cause asymmetric growth and give the head a distorted shape. The face is distinctive looking and there may be full-length webbing or fusion between the 2nd, 3rd and 4th fingers, as well as the toes. In addition, as the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function. There are several other syndromes which have a similar appearance and include craniosynostosis (premature suture fusion): Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)

69. Health Library - Apert Syndrome apert syndrome. apert syndrome, also known as acrocephalosyndactyly type I (ACS1),is a rare genetic disorder that is apparent at birth (congenital). http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

70. Health Library - Apert Syndrome apert syndrome. Self Help Clearinghouse. Apert Support and Information Network.International network. apert syndrome Pen Pals. National network. http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29ape

71. Page Not Found apert syndrome. Syndrome, apert syndrome. Gene Name, Fibroblast growthfactor receptor2. Gene Symbol, FGFR2. OMIM Number of the Gene, 176943. http://www.nidr.nih.gov/cranio/detail/101200.htm

Please check to see if you entered the correct URL. If you did, it might be that the link no longer exists. As an option, you may do a search of our site. If all else fails, please fill in the form below and send it to the webmaster to report the broken link. Your Name: Email Address: Please indicate the broken URL here: Your browser doesn't support JavaScript. It will, however, affect only two minor things: it will distort the page appearance and will disable the "printer-friendly version" link. NIDCR Home Page Contact us Accessibility Privacy statement ... Search Image in banner: magnified fluoride crystal National Institute of Dental and Craniofacial Research National Institutes of Health Bethesda, MD 20892-2190 e-mail: nidcrinfo@mail.nih.gov phone: 301/496-4261 National Institutes of Health Department of Health and Human Services

72. Health Library - Apert Syndrome apert syndrome. Self Help Clearinghouse. Apert Support and Information Network.International network. apert syndrome Pen Pals. National network. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29a

73. Second Branchial Arch apert syndrome Deepa V Suvarna*, Dhaara Chheda**, Waheeda B Pagarkar***, AnaghaVjayakar *** *Lecturer; **Registrar; ***Associate Prof; ****Prof; Dept. http://www.bhj.org/journal/1999_4101_jan99/case_187.htm

74. Apert Syndrome Resources On The Internet HealthCyclopedia, apert syndrome. Health News, Web Directory Web Links Andrew'sJourney with Apert's Written by father of child with apert syndrome. http://www.healthcyclopedia.com/apert_syndrome.html

Home Health Conditions by Category ... Contact Us Apert Syndrome Health News Search millions of published articles for news on Apert Syndrome The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report Note: To access the full text of articles, sign up for a seven-day no-risk free trial subscription to eLibrary. Web Directory Web Links: Andrew's Journey with Apert's - Written by father of child with Apert syndrome. Contains biographical detail, and links to Apert syndrome stories and support sites. Apert Syndrome - Produced by Alliance of Genetic Support, this includes comprehensive information about the condition, an Apert listserve, newsgroup, links, webring and family homepages. Apert Syndrome - Resource for contacts, chat rooms, pen pals and other relevant links. Apert Syndrome - Frequently asked questions and answers on Apert syndrome. Apert Syndrome Information Site - Information about Apert syndrome from ApertInfo.com

75. VITAE13 - Obstetricia-Pediatría Birth prevalence study of the apert syndrome. Am J Med Genet 1992;42655659. WilkieAOM. Kim H, Uppal V, Wallach R. apert syndrome and fetal hydrocephaly. http://caibco.ucv.ve/Vitae/VitaeTrece/CasosClinicos/GinecologiaPediatria/Archivo

76. Health Library - Apert Syndrome Saint Luke's Health System eLibrary. apert syndrome. Self Help Clearinghouse. ApertSupport and Information Network. apert syndrome Pen Pals. National network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

77. The Ornitz Laboratory The Etiology of apert syndrome Premature ossification and fusion of the suturesbetween the developing flat bones of the skull; osseous fusion of digits and http://molecool.wustl.edu/Ornitz/apert.htm

The Etiology of Apert Syndrome: Premature ossification and fusion of the sutures between the developing flat bones of the skull; osseous fusion of digits and phalangeal joints and soft-tissue syndactyly in hands and feet; as well as central nervous system malformations and mental retardation. Click the image at right for some examples from Holten et al., 1997. The Cause of Apert Syndrome: Apert syndrome is caused by ectopic autocrine activation of FGFR2 within mesenchymal and possibly epithelial tissues. Missense substitutions allow mesenchymal splice forms of FGFR2 to be activated by mesenchymally expressed ligands. Click on the image at left for more information. Molecular Defects of Apert Syndrome: FGF7 activates FGFR2c/S252W: All of the Apert Syndrome images and information featured on this web page are related to the recent publication of Yu, K., Herr, A. B., Waksman, G. and Ornitz, D. M. (2000). Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc. Natl. Acad. Sci. USA 97: 14536-14541.

78. ScienceDaily News Release: Disease-Causing Genetic Mutations In Sperm Increase W The disease, apert syndrome, leads to webbed fingers and early fusion of the skullbones and must be corrected by surgery. Search Our Archives. Keywords http://www.sciencedaily.com/releases/2002/10/021018080014.htm

Search Our Archives Keywords: Order by: date relevance More options Get ad-free access with email updates sign up or log in Text size: A A A Welcome Home page About this site Awards, reviews News Summaries Headlines Topics Shop Our stuff Browse books Magazines Software Contribute Register free Post release Edit profile Review hits Advertise Media kit Traffic stats Contact us Previous Story ... Related Stories Next Story Source: Johns Hopkins Medical Institutions Date: Scientists from the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins may have discovered why a rare genetic disease is more common in children born to older fathers. The disease, Apert syndrome, leads to webbed fingers and early fusion of the skull bones and must be corrected by surgery. While Apert syndrome itself affects only 1 in 160,000 births, the scientists believe their findings could extend to many of the 20 or so other genetic conditions similarly linked to older fathers. The researchers are scheduled to present their findings Oct. 17 at the annual meeting of the American Society for Human Genetics in Baltimore. "It makes sense that the mutations causing these diseases would occur more frequently in older men, and indeed that's what we saw for Apert syndrome," says Ethylin Jabs, M.D., director of the Center for Craniofacial Development and Disorders at Johns Hopkins.

79. Mioti: Medical Condition Condition apert syndrome. MEDLINEplus apert syndrome. NORD apert syndrome.Information from the National Organization for Rare Disorders. http://www.mioti.com/cat/condition/condition.asp?Cat=ApertSyndrome

80. Cleft Lip And Palate - Related Syndromes [from CLAPA Ireland] Read more apert syndrome apert syndrome (AP) is a rare genetic disorder whichinvolves distortion of the head and face and webbing of the hands and feet. http://www.cleft.ie/related/

You are here: Home Page Related Syndromes Related Syndromes There are some 400 known syndromes associated with cleft lip and/or palate. A study (1970) Other studies have reported figures which may not be directly comparable with those listed above. A French investigation by Stoll et al (2000) Note: The large differences in the figures reported above may be due to the distinction between what constitutes a syndrome and what constitutes a malformation. A syndrome is where a number of conditions exist together, while referral to associated malformations may actually indicate a single condition existing in association with a cleft. [Eddie Byrne] Included are details of but a few known syndromes. Related Sections Research Chromosome Disorders Velocardiofacial syndrome Velocardiofacial syndrome (VCFS), also known as Shprintzen syndrome , is the syndrome most commonly associated with a cleft palate, most usually cleft of the soft palate. A cleft lip may also occur.

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