41. Apert Syndrome Definition - Medical Dictionary Definitions Of Popular Medical Te Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=6575

42. Apert Syndrome | Craniofacial Center | Children's Hospital And Regional Medical Information about apert syndrome, a complex condition caused by early closing ofone or more of the sutures that separate the bony plates of the skull. http://craniofacial.seattlechildrens.org/conditions/aperts.asp

@import url(/assets/styles/main.css); Skip Navigation Search: Craniofacial Home About Us Our Services Conditions Treated ... Other Rare Conditions Shortcuts E-mail This Page Apert Syndrome Related Items Glossary Contact Information What is Apert syndrome? How much experience do you have treating ... Who should I call if I have questions about Apert syndrome? What is Apert syndrome? Apert syndrome is a complex condition caused by premature craniosynostosis , or early closing of one or more of the sutures (specialized joints between skull bones that expand during normal brain growth) that separate the bony plates of the skull. Apert syndrome is a condition that affects the craniofacial structures and the limbs. A syndrome is a disease or disorder that has more than one identifying feature or symptom. These children have bicoronal synostosis, midface hypoplasia and complex syndactyly of the hands and feet. Bicoronal synostosis means that the coronal (skull) sutures have fused together, causing an abnormal head shape and potentially increased pressure on the growing brain.

43. Cleft And Craniofacial Anomalies: Apert Syndrome apert syndrome is associated with craniosynostosis (premature closure of the People with apert syndrome may have a cleft palate and a flat face and they http://www.ucdmc.ucdavis.edu/children/services/cleft/health/anomalies/apert.html

For Health Consumers For Health Professionals Find a Clinic Find a Doctor ... Employment Apert syndrome What Causes Apert Syndrome? The gene involved with Apert syndrome is FGFR2 (this stands for fibroblast growth factor receptor 2.) FGFR genes are involved in the way our bones are formed. There are 4 FGFR genes, which are numbered 1 through 4. FGFR2 is on chromosome 10. Can Apert Syndrome Occur More than Once in a family? Most cases of Apert syndrome are sporadic. This means that there is no family history of the syndrome and it is unlikely to occur again in another pregnancy. However if you have Apert syndrome, you have a 1 in 2 or a 50% chance of having a child with Apert syndrome for each pregnancy. This is because Apert syndrome is inherited in an autosomal dominant manner. Is there testing?

44. BBC - Health - Conditions - Apert Syndrome A guide to apert syndrome. apert syndrome is different from other types ofcraniosynostosis because the skin and bones of the hands and feet are also http://www.bbc.co.uk/health/conditions/apert2.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index THURSDAY 8th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Apert syndrome Dr Trisha Macnair Some genetic conditions lie hidden away deep within the cells, causing mischief that may not be very apparent, at least until later in life. But others are much more noticeable because they affect the way a person looks. Apert syndrome is one such condition. In this article What causes Apert syndrome? Problems develop during early childhood Treatment begins at birth Named after the French doctor who first described the condition in 1906, Apert syndrome causes premature fusion of the bones of the skull and face, known as craniosynostosis. This leads to an abnormally shaped head and an unusual facial appearance. Apert syndrome is different from other types of craniosynostosis because the skin and bones of the hands and feet are also fused together (this is called syndactyly). These abnormalities are usually obvious as soon as a baby with Apert syndrome is born. During the first months and years of life, the bony changes progress and other problems may develop (see box below). What causes Apert syndrome?

45. Apert Syndrome This page is devoted to apert syndrome. I hope you find the information andrelated links helpful in your search. Home Page What is apert syndrome? http://mick.murraystate.edu/cdi684/cdi684001/ACARTER/

Apert Syndrome This page is devoted to Apert Syndrome. I hope you find the information and related links helpful in your search. Home Page What is Apert Syndrome? Features of Apert Facts About Clefts ... Directory of Related Links This page was created by Amy L. Carter Graduate Student Speech-Language Pathology CDI 684 (Craniofacial Anomalies) December 2000 Murray State University To Contact Me: Email: ajcarter@apex.net

46. NORD - National Organization For Rare Disorders, Inc. In infants with apert syndrome, the fibrous joints between certain bones in theskull In most instances, apert syndrome results from new genetic changes http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Apert Syndrom

47. MedlinePlus Medical Encyclopedia: Apert Syndrome apert syndrome is a genetic disease. It can be inherited, or it may occur withouta known apert syndrome is transmitted as an autosomal dominant trait, http://www.nlm.nih.gov/medlineplus/ency/article/001581.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Apert syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Syndactyly Alternative names Return to top Acrocephalosyndactyly Definition Return to top 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. Causes, incidence, and risk factors Return to top Apert syndrome is transmitted as an autosomal dominant trait, which means that only 1 parent needs to have the condition for a child to 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 to close prematurely (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. 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):

48. Apert Syndrome: Definition And Much More From Answers.com type I acrocephalosyndactyly n. Acrocephalosyndactyly with the second throughfifth digits fused into one mass with a common nail, often accompanied. http://www.answers.com/topic/type-i-acrocephalosyndactyly

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Medical Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Apert syndrome Medical type I acrocephalosyndactyly n. Acrocephalosyndactyly with the second through fifth digits fused into one mass with a common nail, often accompanied by moderately severe acne vulgaris on the forearms. Also called Apert's syndrome Wikipedia Apert syndrome Apert Syndrome , virtually synonymous with Acrocephalosyndactyly , is a branchial arch syndrome , characterized by a number of clinical features, resulting from a developmental anomaly. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible . Since the branchial arches are important developmental features in a growing embryo , disturbances in its development create lasting and widespread effects. Overview In Eug¨ne Apert , a French physician, first described nine people with a similar disorder. Since he was the first to do so, his name is associated with the syndrome. What occurs in embryology is that hands and feet are supposed to have some selective cells die (known as selective cell death or apoptosis to separate the fingers and toes. In the case of acrocephalosyndactyly, selective cell death does not occur, and fusion of skin, and sometimes bone, between the fingers and toes occur.

49. Apert Syndrome National network. Founded 1992. Group correspondence program for persons withapert syndrome to share http://my.webmd.com/hw/health_guide_atoz/shc29ape.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Apert Syndrome Pen Pals Apert Syndrome Apert Syndrome Pen Pals National network. Founded 1992. Group correspondence program for persons with Apert syndrome to share experiences. Information and referrals, pen pals, phone help. WRITE: Apert Syndrome Pen Pals P.O. Box 115 Providence, RI 02901 CALL: 401-454-0704 (after 4:30pm ET) VERIFIED: 4/28/2005 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

50. Apert Syndrome apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a raregenetic disorder that is http://my.webmd.com/hw/health_guide_atoz/nord254.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Apert Syndrome Important It is possible that the main title of the report Apert Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Acrocephalosyndactyly, Type I ACS I Syndactylic Oxycephaly Disorder Subdivisions None General Discussion Apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital). The disorder is primarily characterized by distinctive malformations of the head and facial (craniofacial) region and defects of the hands and feet. In some instances, mental retardation may also be present. In infants with Apert syndrome, the fibrous joints between certain bones in the skull (cranial sutures) close prematurely (craniosynostosis), causing the head to appear abnormally pointed at the top (acrocephaly). Affected infants also have characteristic facial abnormalities, such as widely spaced eyes (ocular hypertelorism), abnormal protrusion of the eyes (exophthalmos), underdevelopment of midfacial regions (midface hypoplasia), and/or a narrow roof of the mouth (palate). Malformations of the hands and feet may include unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail ("mitten-like" syndactyly).

51. Indian Pediatrics - Editorial apert syndrome was first described by Eugene Apert in 1906 as a triad ofcraniosynostosis apert syndrome is characterized by irregular craniosynostosis, http://www.indianpediatrics.net/sep2002/sep-876-878.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2002; 39:876-878 Apert Syndrome A 7 days old male neonate from an orphanage, presented with loose stools. On examination, he had flattened occiput, prominent coronal suture, hypertelorism, depressed nasal bridge, antimongoloid slant, maxillary hypoplasia and small nose ( Fig.1 ). Examination of oral cavity revealed cleft of soft palate ( Fig. 2 ). Syndactyly of both hands with complete fusion of 2nd, 3rd, 4th and 5th fingers with broad distal phalanx of thumb and syndactyly of all toes were other prominent features. The fused fingers and toes had separate nails. There were no other skeletal deformities and his fundus examination was Fig. 1. Photograph showing midfacial hypoplasia and syndactyly of hands and feet. Fig. 2. Photograph showing cleft of soft palate and syndactyly of fingers and broad thumb. normal. Cardiovascular system examination revealed a systolic murmur over the pulmonary area. His neurosonogram and ultrasonogram abdomen were normal but echo cardiogram showed an atrial septal defect.

52. Apert Syndrome - Cleft And Craniofacial Center - Golisano Children's Hospital At Patients with apert syndrome typically have premature fusion of multiple Most children with apert syndrome have some degree of webbing between the http://www.stronghealth.com/services/surgical/plastic/craniofacial/apertsyndrome

@import "/css/Strongw3c.css"; Search: Search Help Plastic Surgery About Us Home Our Locations Our Team Meet Our Surgeons Craniofacial Team Cosmetic Surgery Home Facial Surgery Body Contouring Breast Surgery Reconstructive Surgery Breast Reconstruction Pediatric Surgery Free Seminar Register For A Free Seminar Resources Helpful Web Sites Contact Us Ask a Plastic Surgeon Ask the Craniofacial Team More Information Plastic Surgery News Department of Surgery Strong Health's Specialists in Plastic Surgery Pediatric Cleft and Craniofacial Center What is Apert Syndrome? Apert Syndrome, a form of craniosynostosis , is a genetic condition primarily involving distortions of the head and face. Distortions develop when the bone sections of the skull (sutures) fuse together too early in the life of the baby. Patients with Apert syndrome typically have premature fusion of multiple cranial sutures. Physical characteristics include: Skull When the sutures fuse together while the brain is still growing, the head and face become misshapen. The sutures most commonly affected are the coronal sutures which extend from ear to ear.

53. Apert Syndrome - Cleft And Craniofacial Center - Golisano Children's Hospital At apert syndrome, a form of craniosynostosis, is a genetic condition primarily Patients with apert syndrome typically have premature fusion of multiple http://www.stronghealth.com/services/childrens/craniofacial/apertsyndrome.cfm

@import "/css/Strongw3c.css"; Search: Search Help Golisano Children's Hospital About Golisano Children's Hospital About Us For Patients and Visitors Your Child's Hospital Visit Community Outreach ... Contact Us Our Services and Programs Services/Programs Our Team Home Our Physicians Keeping Your Child Healthy Home Conditions A to Z Child Safety Our Specialized Centers Centers Research Home Education Residency Fellowships Medical Student Education Community Outreach Home Ways to Give Home More Information Golisano Children's Hospital News Pediatric Cleft and Craniofacial Center What is Apert Syndrome? Apert Syndrome, a form of craniosynostosis , is a genetic condition primarily involving distortions of the head and face. Distortions develop when the bone sections of the skull (sutures) fuse together too early in the life of the baby. Patients with Apert syndrome typically have premature fusion of multiple cranial sutures. Physical characteristics include: Skull When the sutures fuse together while the brain is still growing, the head and face become misshapen. The sutures most commonly affected are the coronal sutures which extend from ear to ear.

54. Apert Syndrome Medical Information apert syndrome Information from Drugs.com. apert syndrome is a genetic disease.It can be inherited or it may occur without a known family history. http://www.drugs.com/enc/apert_syndrome.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Apert syndrome Injury Disease Nutrition Poison ... Syndactyly Apert syndrome 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 Apert syndrome is transmitted as an autosomal dominant trait, which means that only 1 parent needs to have the condition for a child to 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 to close prematurely (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. As the child grows, the bones in the hands and feet become progressively fused, which reduces flexibility and function.

55. Craniofacial Center | Dallas, Texas apert syndrome results from a mutation (or change) in a single gene located on The chances of two parents, neither of whom have apert syndrome 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.

56. Craniofacial Center | Dallas, Texas Some children with apert syndrome may also develop optic nerve atrophy Almost every child with apert syndrome requires eye muscle balancing surgery. http://www.thecraniofacialcenter.org/apert_eyes_midface.html

Apert Sydrome: Physical Traits The Eyes and Midface: The eye problem most frequently found is an imbalance of the muscles that move the eye (called "strabismus"). Sometimes, one of the six muscles that move the eye may be completely absent. Almost every child with Apert syndrome requires eye muscle balancing surgery. If this is not done, children learn to stop seeing out of one eye ("amblyoplia") in order to prevent this double vision. The midface is the part of the face that extends from underneath the eyes and across the top of the nose, down to the teeth of the upper jaw. The area is always small (also called "hypoplastic", meaning lack of growth) in Apert syndrome. The deepest part of the face is usually centered at the top of a short nose. Because the midface cannot grow forward very well, it is usually surgically moved forward a couple of times over the child's lifetime (see treatment, below). Other Apert Syndrome Physical Traits: Skin Skull Brain Ears ... Other Joints

57. Apert Syndrome apert syndrome was first described by Eugene Apert in 1906. The incidence ofapert syndrome is approximately one in 50000 births. http://dermatology.cdlib.org/111/case_reports/apert/verma.html

DOJ Contents Apert syndrome Shyam Verma MD and Michelle Draznin MD Dermatology Online Journal 11 (1): 15 1. Pratapgunj Baroda 390 002, India. vermaderma@rediffmail.com 2. Department of Dermatology, University of California, Davis Introduction Over the past several decades tremendous advances have been made in the prevention and treatment of developmental anomalies. This metamorphosis in our conceptualization of developmental malformations has led to an improved ability to handle and prevent them. Despite such improvements, developmental malformations remain a significant cause of morbidity worldwide. Even when the mode of inheritance is well established, some conditions continue to exhibit a large number of sporadic occurrences, which makes their eradication virtually impossible. As such, it is incumbent on us to learn us much as possible about these conditions. In this way, we can become better clinicians and impart better care to those who so desperately need it. Apert syndrome was first described by Eugene Apert in 1906. He described a triad of craniosynostosis, syndactyly and maxillary hypoplasia. It is known to be inherited in an autosomal dominant fashion, but most cases are sporadic. The sporadic cases are postulated to be associated with advanced paternal age. The incidence of Apert syndrome is approximately one in 50,000 births. Some investigators state that 4.5 percent of all craniosynostosis represent Apert syndrome [ Clinical synopsis Figure 1 Figure 2

58. CCDD: Apert Syndrome The Center for Craniofacial Development and Disorders (CCDD), at Johns HopkinsUniversity, 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

59. CCDD: Physician: Education: Descriptions Of Disorders: Apert Syndrome s of Disorders for Families and Physicians....... http://www.hopkinsmedicine.org/craniofacial/Education/Article.cfm?ArticleID=1&So

60. Apert Syndrome What is apert syndrome Health Consumer Support Groups Facial Differences ApertSyndrome Space Coast Early Intervention Center A nationally recognized 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

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