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         Apert Syndrome:     more detail
  1. Apert Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-08-31
  2. Apert syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Suzanne, MS, CGC Carter, 2005
  3. Physical activity for children with Apert syndrome.: An article from: Palaestra by Robert C. Weber, 1994-01-01
  4. Dysostoses: Syndrome D'apert, Syndrome de Rubinstein-Taybi, Syndrome Oro-Facio-Digital Type 1, Syndrome de Greig, Syndrome de Pfeiffer (French Edition)
  5. Apert Syndrome
  6. Apert Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19

21. AllRefer Health - Apert Syndrome Support Groups (Acrocephalosyndactyly)
apert syndrome (Acrocephalosyndactyly) information center covers Support Groups. Support Groups for apert syndrome. apert syndrome.
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Alternate Names : Acrocephalosyndactyly Apert Syndrome Support Groups Apert Syndrome Pen Pals, (401) 454-4849
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... Apert Syndrome Complications Apert Syndrome Support Groups Calling Your Health Care Provider Topics that might be of interest to you Skull X-Ray Other Topics Skeletal Limb Abnormalities Review Date : 8/6/2003 Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

22. MedlinePlus Medical Encyclopedia: Apert Syndrome
apert syndrome. Definition Return to top. apert syndrome is a genetic disease. It can be inherited or it may occur without a known family history.
http://www.nlm.nih.gov/medlineplus/ency/article/001581.htm
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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 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):

23. Support Groups - Apert Syndrome
home support groups conditions and diseases facial differences apert syndrome apert syndrome. What is apert syndrome?
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Health News: Search millions of published articles for news on Support Groups - Apert Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: 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.

24. Andrew's Apert Journey: What Is Apert Syndrome?
SITE LINKS What is Apert s Syndrome? Apert s the Enigma of Chromosome No.10. Craniofacial Work at Columbia CPMCnet. apert syndrome FacesCranio Disorders.
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SITE LINKS: What is Apert's Syndrome? Andrew: Born With Apert's Andrew's Early Saga ... Andrew's Image Gallery
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A CONGENITAL DEFECT FOR ONE IN 200,000 ... BUT 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. What Is Apert Syndrome?
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.

25. Apert Syndrome
apert syndrome. Definition apert syndrome is a genetic disease. It can be inherited or it may occur without a known family history.
http://www.healthscout.com/ency/article/001581.htm
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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, 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.

26. Apert Syndrome - Medical Dictionary Definitions Of Popular Medical Terms
MedicineNet Home MedTerms medical dictionary AZ List apert syndrome. Advanced Search.
http://www.medterms.com/script/main/art.asp?articlekey=6575

27. Apert Syndrome Acrocephalosyndactyly - Medical Dictionary Definitions Of Popular
MedicineNet Home MedTerms medical dictionary AZ List apert syndrome acrocephalosyndactyly. Advanced Search.
http://www.medterms.com/script/main/art.asp?articlekey=6605

28. Apert Syndrome
apert syndrome. acrocephalosyndactyly . acrocephaly (coronal craniosynostosis); syndactyly. Home Nervous system Disclaimer © 2002, CE Kahn, Jr. 200204-18.
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29. Apert Syndrome
apert syndrome Pen Pals. apert syndrome apert syndrome Pen Pals Founded 1992. Group correspondence program for persons with apert syndrome to share experiences.
http://my.webmd.com/hw/health_guide_atoz/shc29ape.asp
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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: 2/21/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; 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 and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

30. Apert Syndrome
apert syndrome Important It is possible that the main title of the report apert syndrome is not the name you expected. Please check
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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).

31. Crouzon's Syndrome
Crouzon s and Apert s Syndrome. OVERVIEW. In addition, children with apert syndrome have syndactaly (webbing) of the hands and feet.
http://www.kidsplastsurg.com/crouzon.html
Crouzon's and Apert's Syndrome OVERVIEW Crouzon and Apert syndromes are the most common of the craniosynostosis syndromes. Craniosynostosis refers to the early closing of one or more of the sutures of an infant's head. The skull is normally composed of bones which are separated by sutures. This diagram shows the different sutures which can be involved. As an infant's brain grows, open sutures allow the skull to expand and develop a relatively normal head shape. If one or more of the sutures has closed early, it causes the skull to expand in the direction of the open sutures. This can result in an abnormal head shape. In severe cases, this condition can also cause increased pressure on the growing brain. The coronal suture goes from ear to ear on the top of the head and fusion of both sides ( bicoronal synostosis or brachycephaly) results in a very flat, recessed forehead. This is the suture fusion found most often in Crouzon and Apert Syndromes. In addition to craniosynostosis these children also have fusion of the sutures or bones in the cranial base and midface, and shallow eye sockets. This gives the appearance of a flat midface and eyes which protrude. In addition, children with Apert Syndrome have syndactaly (webbing) of the hands and feet.

32. Apert Syndrome Facial Differences Conditions And Diseases Support Groups Health
Support Groups. Most comprehensive resource on Support Groups Conditions And Diseases Facial Differences apert syndrome. 5. What is apert syndrome? .
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33. Apert Syndrome Articles, Support Groups, And Resources
apert syndrome articles, support groups, and resources for patients from Med Help International (www.medhelp.org). apert syndrome.
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34. APERT SYNDROME
apert syndrome An inherited disease (autosomal dominant) or a spontaneously occurring disease characterized by a peaked head and unusual facial appearance
http://www.medhelp.org/glossary2/new/GLS_0465.HTM
APERT SYNDROME - An inherited disease ( autosomal dominant ) or a spontaneously occurring disease characterized by a peaked head and unusual facial appearance, due to the premature closure of the cranial sutures . A skull x-ray can confirm the diagnosis . Treatment is surgical.
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35. HealthCentral - General Encyclopedia - Apert Syndrome
apert syndrome. Causes, incidence, and risk factors The inherited form of apert syndrome is transmitted as an autosomal dominant trait.
http://www.healthcentral.com/mhc/top/001581.cfm
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36. NORD - National Organization For Rare Disorders, Inc.
apert syndrome. To purchase fulltext report ($7.50) View Cart/Checkout. Copyright 1986, 1988, 1990, 1992, 1994, 1999, 2000 Synonyms of apert syndrome ACS I;
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Apert Syndrom

37. Welcome To The UC Davis Children's Hospital Cleft & Craniofacial Program
apert syndrome is associated with craniosynostosis (premature closure of the sutures of the skull). Of those who have craniosynostosis
http://www.ucdmc.ucdavis.edu/cleft/craniofacial/guide/about/apertsyndrome.html
Home Craniofacial Anomalies About Craniofacial Anomalies Team Approach to Care ... Scheduling an Appointment 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?

38. ► Apert Syndrome
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Apert syndrome
Overview Symptoms Treatment Prevention 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)

39. Health Library -
apert syndrome. apert syndrome, also known as acrocephalosyndactyly type I (ACS1), is a rare genetic disorder that is apparent at birth (congenital).
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

40. Apert Syndrome - Genetics Home Reference
Genetic disorder catalog. apert syndrome. What is apert syndrome? How common is apert syndrome? About 15 newborns in 1 million have apert syndrome.
http://ghr.nlm.nih.gov/condition=apertsyndrome
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Apert syndrome
Apert syndrome
What is Apert syndrome?
Apert syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Hearing loss may be present. Recurrent ear infections are common and may be associated with cleft palate. Acne can be severe. Additionally, individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Intellectual development also varies, ranging from normal to mild or moderate mental retardation.

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