41. TheFetus.net - Apert Syndrome-Sandra R Silva, MD & Philippe Jeanty, MD, PhD apert syndrome. Sandra R Silva, MD Philippe Jeanty, MD, PhD. Etiology apert syndrome is an autosomal disorder with dominant inheritance. http://www.thefetus.net/page.php?id=333

42. TheFetus.net - Apert Syndrome -Luis A, Izquierdo, MD, Yvette Puente, RDMS 200103-16-10 apert syndrome © Izquierdo http//www.thefetus.net/. apert syndrome. Luis A Izquierdo, MD, Yvette Puente, RDMS. Division http://www.thefetus.net/page.php?id=332

43. Craniofacial Dysotosis Chapter 3 apert syndrome. apert syndrome. apert syndrome or acrocephalosyndactyly syndromes are rare conditions. In 1906, Apert described http://www.erlanger.org/craniofacial/book/craniosynostosis/cranio_7.htm

Chapter 3 Apert Syndrome Craniosynostosis Sagittal Synostosis Metopic Synostosis Unilateral Coronal Synostosis ... Posterior Plagiocephaly Apert Syndrome Crouzon Syndrome CHAPTERS Introduction Clefts of the Lip and Palate Ear Reconstruction Craniosynostosis Orbital Reconstruction Treacher Collins Syndrome Nasal Reconstruction Orthognathic Surgery ... Summary Craniofacial dysotosis (Crouzon's and Apert's diseases) are characterized by craniostenosis with cranial dysmorphia and facial deformities (hence, the term craniofacial dysotosis). APERT SYNDROME Apert syndrome or acrocephalosyndactyly syndromes are rare conditions. In 1906, Apert described the skull, facial, and hand deformities of several patients characteristic of this syndrome that now bears his name. The incidence of infants born with Apert syndrome is one for every 100,000 to 160,000 live births. Many of the infants born with this syndrome show a sporadic transmission, which means that a family may have a child with Apert's when no other members of the family are affected. The recurrent risk of having another child with Apert's for two unaffected parents is negligible. However, if the parent is affected there is a 50% chance of each offspring having Apert syndrome with both males and females affected equally. Clinical Features:

44. Indian Pediatrics - Editorial apert syndrome. apert syndrome was first described by Eugene Apert in 1906 as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. http://www.indianpediatrics.net/sep2002/sep-876-878.htm

45. LookSmart - Directory - Apert Syndrome apert syndrome Contains resources on genetics and craniofacial and limb abnormalities. Includes support orgs and groups. Directory http://search.looksmart.com/p/browse/us1/us317914/us53774/us330851/us531132/us10

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home IN the directory this category YOU ARE HERE Home Sciences Biology Neuroscience ... Craniofacial Apert Syndrome - Contains resources on genetics and craniofacial and limb abnormalities. Includes support orgs and groups. Directory Listings About allRefer Health - Apert Syndrome or Acrocephalosyndactyly Uncover symptoms, complications, prevention, prognosis, causes, signs, and treatment of this genetic disorder marked by skull malformation and fusion of finger and toes. Apert International Find support and information about Apert Syndrome a rare craniofacial condition. Faces: The Nat'l Craniofacial Assoc. - Apert Syndrome Nonprofit organization serving people with severe head deformities provides a FAQ about Apert syndrome. Family Village - Apert Syndrome Locate resources and support groups that are specifically aimed at children with Apert syndrome. Genetic Alliance - Apert Syndrome Pen Pals Provides a forum for friends and family of individuals with Apert syndrome or acrocephalosyndactyly. Contains contact information. National Center for Biotechnology Information - Apert Syndrome Apert discovered this genetic disease, characterized by skull malformation and the fusion of finger and toes. Read about the latest research.

46. TJ's Journal - Learning About Apert Syndrome, A Craniofacial Disorder What is apert syndrome? 18, No. 2, April 1991. Major Features of apert syndrome. Prematurely fused cranial sutures; A retruded midface; Fused fingers; Fused toes. http://www.califariel.com/tj/asinfo.html

About Apert Syndrome... TJ's Progress TJ's Family Contact Us About Apert Syndrome Links to AS Sites E-mail Us Return Home What is Apert Syndrome? The following was developed from information contained in an article entitled Clinical Assessment and Multispecialty Management of Apert Syndrome , written by Lawrence C. Kaplan, MD, and published in Clinics in Plastic Surgery-Vol. 18, No. 2 , April 1991. Major Features of Apert Syndrome Prematurely fused cranial sutures A retruded midface Fused fingers Fused toes Possible Related Features of Apert Syndrome These have been observed in some cases of Apert syndrome, although whether they were caused by Apert syndrome is uncertain. Various heart defects Dextrorotation Pulmonary Atresia Patent Ductus Arteriosus (PDA) Tracheoesophageal Fistula Pyloric stenosis Polycystic kidneys Bicornate uterus Hydrocephalus Ear infections Sleep Apnea Severe acne Increased incidence of eye injuries Definition Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births. Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet. The skull is prematurely fused and unable to grow normally; the midface (that area of the face from the middle of the eye socket to the upper jaw) appears retruded or sunken; and the fingers and toes are fused together in varying degrees. Apert syndrome is named for the French physician who first described it, E. Apert, in 1906.

47. Www.orpha.net/consor/cgi-bin/patsgn_data.php?PatId=261 PatLbl=Apert+syndrome Asb apert syndrome Group correspondence program for persons with apert syndrome to share experiences. Information and referrals, pen pals, phone help. apert syndrome. http://www.orpha.net/consor/cgi-bin/patsgn_data.php?PatId=261&PatLbl=Apert syndr

48. What Is Apert Syndrome? A site about apert syndrome and our son Andrew s painful journey with this congenital disorder. BUT WHAT IS apert syndrome? What Is apert syndrome? http://members.aol.com/ApertSyn/apert.html

What is Apert Syndrome? Andrew: Born With Apert's Andrew's Early Saga Can Andrew Hear Us? ... Neurosurgery.Org A CONGENITAL DEFECT FOR ONE IN 200,000 ... BUT WHAT IS APERT SYNDROME? What Is Apert Syndrome? From data in an article entitled Clinical Assessment and Multispecialty Management of Apert Syndrome, Lawrence C. Kaplan, MD, published in Clinics in Plastic Surgery - Vol. 18, No. 2, April 1991. M ajor Features of Apert Syndrome Prematurely fused cranial sutures A retruded midface Fused fingers Fused toes Possible Related Features of Apert Syndrome These have been observed in some cases of Apert syndrome, although whether they were caused by Apert syndrome is uncertain. Various heart defects Dextrorotation Pulmonary Atresia Patent Ductus Arteriosus (PDA) Tracheoesophageal Fistula Pyloric stenosis Polycystic kidneys Bicornate uterus Hydrocephalus Ear infections Sleep Apnea Severe acne Increased incidence of eye injuries Definition Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 (some sources claim as "common" as one in 50,000 to 65,000)

49. Apert Syndrome- Medcohealth.com apert syndrome is a genetic disease. It can be inherited or it may occur without a known family history. apert syndrome. Source ADAM, Inc. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

50. Apert Syndrome Back Home Next. apert syndrome. What is apert syndrome Health Consumer Support Groups Facial Differences apert syndrome. Space Coast http://www.ability.org.uk/Apert_Syndrome.html

Our Aims Services Stats ... Z Apert Syndrome What is Apert Syndrome Health: Consumer Support Groups: Facial Differences: Apert Syndrome Space Coast Early Intervention Center A nationally recognized not-for-profit pre-school and therapeutic center for families and children with Apert syndrome Reference: Education: Special Education: Schools: Early Education ... Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

51. Support Groups Apert Syndrome Support Groups apert syndrome. Teeter s Page What is apert syndrome? Teeter s Story. Teeter s Internet Friends. Links to craniofacial sites we have found. http://www.ability.org.uk/support_groups_apert_syndrome.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Support Groups Apert Syndrome Teeter's Page - What is Apert Syndrome? Teeter's Story. Teeter's Internet Friends. Links to craniofacial sites we have found. A listing of medical journal articles which we are aware of, including addresses for requesting reprints. Other offline resources. Join the Apert Listserv. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

52. Craniofacial Center | Dallas, Texas apert syndrome results from a mutation (or change) in a single gene located on chromosome 10q. If this occurs in the right gene, apert syndrome results. http://www.thecraniofacialcenter.org/apert.html

Apert Sydrome: Overview: Physical Traits: Apert syndrome affects multiple places around the body. Some individuals will have some of the following traits and others will not. This list is not complete, but does include the more common findings. Skin Skull Brain Ears ... Other Joints Treatment: The treatment of a child born with Apert syndrome is complex, and is probably best provided by comprehensive craniofacial teams at major centers. The following is a brief overview of our recommended treatment protocols. Specifics should be discussed with your team of doctors. Skull Surgery Sleep Apnea Midface Surgery Hands and Feet The Big Picture: The child born with Apert syndrome, and his or her family, spend too much time in the hospital. Children with Apert syndrome should not be put to sleep for a single small operation to be done by only one doctor, multiple times a year. It is important that every time a child with Apert syndrome needs to go to sleep in the operating room, all the specialists coordinate their care so that as much gets done as possible with each anesthetic. It is also critical that the correct operation be done the first time, and that all efforts are made to reduce complications. I believe that it is very important that these children be given substantial blocks of time away from the hospital so that they can grow and develop. In order to accomplish this, children should ideally be treated only at experienced craniofacial centers.

53. Apert Syndrome - The Knowledge Database Of The Swedish National Board Of Health apert syndrome To the Swedish version. apert syndrome or acrocephalosyndactyly belongs to the group of congenital craniofacial malformations. http://www.sos.se/smkh/2001-110-5/2001-110-5.htm

Socialstyrelsen 106 30 Stockholm e-post With effect from 2001, the National Board of Health and Welfare classifies its publications into various types of document. This an Overview of Knowledge . That means that the report is based on science and/or proven experience. Overviews of knowledge among other things are to provide support for knowledge-based care and treatment, method development and other improvement work, encourage and facilitate quality follow-up and/or encourage efficient utilisation of resources. The National Board of Health and Welfare is responsible for the contents and conclusions. Apert Syndrome Acrocephalosyndactyly Table of Contents The disease/injury/diagnosis Incidence Aetiology of the disease/injury Heredity ... Database references Dokument date: 2002-01-31 HTML-version 1.0 English index Search The aphabetical list This is an excerpt from the knowledge database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders or injuries resulting in extensive handicaps and affecting no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide up-to-date information on rare diseases and about the support and services these groups of people require. The disease/injury/diagnosis Incidence Approximately one child in 100,000 is born with Apert Syndrome. This means that in Sweden approximately two children with Apert Syndrome are born during a three-year period. The syndrome has been found all over the world, and is equally distributed between girls and boys.

54. Apert Syndrome Selected medical images OMIM apert syndrome. apert syndrome; apert syndrome; Apert s Syndrome; Clinical variability in patients with Apert s syndrome; http://www.gfmer.ch/Genetic_diseases/Apert_syndrome/Apert_syndrome.htm

Selected medical images OMIM Apert syndrome Apert Syndrome Apert Syndrome Apert's Syndrome Clinical variability in patients with Apert's syndrome ... The principles of management of congenital anomalies of the upper limb Sources Archives of Disease in Childhood (UK) Indian Pediatrics Journal of Postgraduate Medicine, India Neurosurgery://On-Call (US) ... Print this page Edited by Aldo Campana, August 13, 2003

55. Disease - Apert Syndrome - Hartford, Connecticut , Saint Francis Care Disease apert syndrome - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in heart disease http://www.saintfranciscare.com/11006.cfm

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Apert syndrome Syndactyly Definition: Apert syndrome is a genetic disease. It can be inherited or it may occur without a known family history. It is characterized by premature closure of the seams between the skull bones, which results in a peaked head and an unusual facial appearance. Alternative Names: Acrocephalosyndactyly Causes And Risk: 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)

56. Adam Health Encyclopedia Adam Health Encyclopedia, Back. Back to main Health Information page Disease apert syndrome. Definition apert syndrome is a genetic disease. http://www.saintfranciscare.com/body.cfm?id=867&action=Display&articlenum=1581

57. Apert Syndrome apert syndrome. Disorders, Inc. Important It is possible that the main title of the report apert syndrome is not the name you expected. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord254

58. Apert Syndrome,Acrocephalosyndactyly Type I,ACS I,Syndactylic Oxycephaly,Apert S apert syndrome,Acrocephalosyndactyly Type I,ACS I,Syndactylic Oxycephaly,apert syndrome,Acrocephalosyndactyly Type I,ACS I,Syndactylic Oxycephaly. http://www.icomm.ca/geneinfo/apert.htm

Apert Syndrome,Acrocephalosyndactyly Type I,ACS I,Syndactylic Oxycephaly,Apert Syndrome,Acrocephalosyndactyly Type I,ACS I,Syndactylic Oxycephaly For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Apert Syndrome also known as: Acrocephalosyndactyly, Type I ACS I Syndactylic Oxycephaly (as defined by the National Organization for Rare Disorders Apert Syndrome is a rare inherited disorder characterized by premature closure of the bones of the skull (craniosynostosis) causing the head to appear long and pointed at the top (acrocephaly). Other features of this disorder include fusion or webbing (syndactyly) of the fingers and/or toes and unusual facial features such as widely spaced, protruding eyes and dental crowding. Apert Syndrome may be inherited as an autosomal dominant genetic trait, or it may occur for no apparent reason (sporadic). View photos of this disorder Click on photos to enlarge them.

59. Apert Syndrome More apert syndrome Categories » Submit Your Site to the apert syndrome category. Submit Your Site to the apert syndrome category. Health Spotlight. http://www.iseekhealth.com/apert_syndrome-5607.php

Home About Us Contact Submit Your Site Search : Home Health Support Groups Conditions and Diseases ... Apert Syndrome More Apert Syndrome Categories: Submit Your Site to the Apert Syndrome category 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 - Frequently asked questions and answers on Apert syndrome. Apert Syndrome - Resource for contacts, chat rooms, pen pals and other relevant links. 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. Teeter's Page - Teeter's story, and Teeter's Internet friends.

60. CCDD: Apert Syndrome The Center for Craniofacial Development and Disorders (CCDD), at Johns Hopkins University, has a comprehensive list of apert syndrome links and articles. http://www.hopkinsmedicine.org/craniofacial/Gateway/ApertSyndrome.cfm

Site Map About Us Family Physician ... Feedback Home About Us Family Physician Scientist ... Feedback Questions: CCDD Site Issues: Webmaster Apert Syndrome This syndrome involves abnormalities of head shape and hand/foot development. The fingers and toes are fused together, giving the appearance of a mitten or sock. It can also be associated with internal organ malformations. Visit these Apert Syndrome links to learn more: Family: Apert Syndrome Introductory Article - Apert syndrome is a type of birth defect that occurs in about 1 of every 100,000 to 160,000 births. Infants with Apert syndrome are born with abnormalities of the face, skull, hands, and feet. This condition was first recognized by, and is named for, a doctor named Frederick Apert, who studied the condition in several children in 1942. Physician: Apert Syndrome Advanced Article - Within the spectrum of craniosynostosis disorders caused by mutations in the fibroblast growth factor receptor genes, Apert syndrome is somewhat unique. Not only is the pattern and development of craniosynostosis different from the related disorders of Crouzon and Jackson-Weiss syndromes, but the extracranial effects are strikingly different. Related Web Sites Site Notes

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