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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

41. A To Z Encyclopedia Topic: Apert Syndrome
Craniofacial Anomalies Programs. Unfortunately, at this time, we arenot able to provide information about this condition or procedure.
http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Apert Syndrome

42. Apert Syndrome
apert syndrome. (See also CRANIOFACIAL DISORDERS);. Apert Support and InformationNetwork,. (415) 3611095 (voice/fax). apert syndrome Pen Pal Network,. PO Box 115.
http://www.childhealthinfo.com/apert-syndrome.htm
APERT SYNDROME (See also CRANIOFACIAL DISORDERS); Apert Support and Information Network, 1626 Redwood Ave Redwood City, CA 94061 (415) 361-1095 (voice/fax) Apert Syndrome Pen Pal Network, PO Box 115 Providence, RI 02901 Apert Syndrome Support Group, 8708 Kathy St St. Louis, MO 63126 [Home] [Printed Guide] [Child Care for the '90's] [Links] ... MoreInfo@ChildHealthInfo.com

43. Index
for Apert International OR -. Thank you!!! for Cleft Advocate. Thankyou for your interest in apert syndrome and Apert International, Inc.
http://www.apert-international.org/
for Apert International - OR - Thank you!!! for Cleft Advocate Thank you for your interest in Apert Syndrome and Apert International, Inc. Apert Syndrome is a rare craniofacial syndrome that affects only 1 in 160,000 individuals. It occurs randomly in all countries, and crosses all racial, ethnic, religious, age, and socioeconomic boundaries. Apert Syndrome results when the DNA from mother and father combine, and a single error occurs during this process. The major symptoms of Apert Syndrome are fingers and toes which are fused together in single masses; plates in the skull that are fused together prematurely; and a variety of facial abnormalities. Other symptoms vary among individuals, and can impact virtually any critical areas such as breathing, heart, kidney, skeletal, neurological, and neuromuscular functions. Children born with Apert Syndrome typically endure dozens of surgeries during their first few years. Apert children seem to be blessed with the strength and character to get through all they must endure, and are usually very happy despite their differences. Modern surgical techniques have been developed that dramatically restore the functionality taken away by Apert syndrome and can also provide for a more normal appearance and heightened self-esteem.

44. Craniofacial Dysotosis
Chapter 3 apert syndrome. apert syndrome. apert syndrome or acrocephalosyndactylysyndromes 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:

45. Crouzon Syndrome
Clinical Features Patients with Crouzon syndrome have very distinct facialfeatures with craniofacial bone morphology similar to apert syndrome.
http://www.erlanger.org/craniofacial/book/craniosynostosis/cranio_8.htm
Chapter 3
Crouzon Syndrome Craniosynostosis Sagittal Synostosis Metopic Synostosis Unilateral Coronal Synostosis ... 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 This syndrome was originally described in 1912 by a French neurosurgeon. He described four essential characteristics: exorbitism, retromaxillism, inframaxillism and parodoxic retrogenia. The incidence of this syndrome appears to be approximately one in 25,000 in the general population. It is inherited as an autosomal dominant pattern with variable expression. However, approximately 25% of reported cases have no family history and represent a new mutation. Clinical Features: Treatment: The final stage of the reconstruction is management of the dental class III malocclusion. A LeFort I osteotomy is used to correct the dental discrepancies in combination with orthodontic intervention. This is usually performed after facial growth is completed and may be combined with a genioplasty (chin reduction/advancement). Additional procedures such as rhinoplasty may be needed. Young woman with Cruzon's Syndrome.

46. APERT SYNDROME
. Prevalence/Causes. apert syndrome occurs in approximately1160,000 live births. It is caused by a genetic mutation (change).......apert syndrome.
http://www.forwardface.org/misc_text/conditions/aperts.htm
APERT SYNDROME Description Apert Syndrome, first described in 1906 by E. Apert, a French physician, is characterized by malformations (abnormal growth) of the skull and face accompanied by fusion (webbing) of the fingers and toes. The shape of the head appears long and pointed at the top. Wide-set, bulging eyes that tilt down at the sides, a sunken-in looking mid face (middle of eye socket to upper jaw) and dental crowding are often found. Skulls of newborns are comprised of sutures or plates that are loosely connected and eventually join together to form the skull. This fusion (craniosynostosis) can cause increased pressure on the brain as it develops causing the head to grow upwards. Visual problems due to eye muscle imbalance Hearing loss due to frequent infections Severe acne Mild mental retardation Cleft palate Hyperactive sweat glands Prevalence/Causes Apert syndrome occurs in approximately 1:160,000 live births. It is caused by a genetic mutation (change). Neither parent is responsible for this mutation first occurring in a family line.

47. Health Ency.: Disease: Apert Syndrome
apert syndrome.
http://www.accessatlanta.com/shared/health/adam/ency/article/001581.html
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Ency. home Disease A Apert syndrome Overview Symptoms Treatment Prevention Alternative names: Acrocephalosyndactyly 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. Causes and Risks 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)

48. Health Ency.: Disease: Apert Syndrome
apert syndrome. A genetic test for mutations in the fibroblast growth factorreceptor 2 gene can confirm the diagnosis of apert syndrome.
http://www.accessatlanta.com/shared/health/adam/ency/article/001581sym.html
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Ency. home Disease A Apert syndrome Overview Symptoms Treatment Prevention Alternative names: Acrocephalosyndactyly Symptoms
  • family history of Apert syndrome
  • skeletal (limb) abnormalities
  • early closure of sutures between bones of the skull, noted by ridging along sutures
  • large or late-closing soft spot on a baby's skull
  • unusual facial appearance resulting from severe under-development of the mid-face
  • prominent and/or bulging eyes
  • fusion or severe webbing of several adjacent fingers and toes (severe syndactyly), often called "mitten hands"
  • intellectual development may be retarded to varying degrees
  • short stature
  • hearing loss
  • frequent ear infections
Signs and Tests A skull X-ray which demonstrates premature closure and a clinical exam can confirm the diagnosis of craniosynostosis (premature fusion of skull sutures). Hand or foot X-rays are also very important to determine the extent of bone problems. A genetic test for mutations in the fibroblast growth factor receptor 2 gene can confirm the diagnosis of Apert syndrome. Hearing tests should also always be given. Ency. home

49. Apert Syndrome
apert syndrome. Complete site with links on apert syndrome. HOME.
http://www.communicationdisorders.net/Apert Syndrome.html
Apert Syndrome
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50. Apert Syndrome From Pediatrics / Genetics And Metabolic Disease
apert syndrome apert syndrome is named for the French physician whodescribed the syndrome acrocephalosyndactylia in 1906. Apert
http://author.emedicine.com/ped/topic122.htm
eMedicine Journal Pediatrics Genetics And Metabolic Disease
Apert Syndrome
Synonyms, Key Words, and Related Terms: acrocephalosyndactyly Apert type, acrocephalosyndactyly type I, Apert's syndrome Author Information Introduction Clinical Differentials ... Bibliography
AUTHOR INFORMATION Section 1 of 11 Authored by Harold Chen, MD, MS, FAAP, FACMG , Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center Harold Chen, MD, MS, FAAP, FACMG, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association American Society of Human Genetics , and Teratology Society Edited by James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Hagop Youssoufian, MSc, MD , Medical Director, Adjunct Associate Professor, Clinical Discovery Department, Baylor College of Medicine;

51. 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://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

52. Short Description Of Cell Lines. Pathology: Apert Syndrome #101200
Version 4.200205, Short description of cell lines. Pathology Apertsyndrome 101200 OMIM record. By selecting the cell line name
http://www.biotech.ist.unige.it/cldb/pat312.html
Version
Short description of cell lines.
Pathology: Apert syndrome
OMIM record
By selecting the cell line name , you will receive the detailed description of the cell line
By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines
You can search any term of the list by using the 'Find' utility of your browser
human, Caucasian
amnion GGB
By Beatrice...

53. Untitled
This one is about What is apert syndrome? (c) 1997 Wide Smiles Email widesmiles@aol.comWhat is apert syndrome? The following was developed
http://www.widesmiles.org/cleftlinks/WS-646.html
You'll find hundreds of files on cleft lip, cleft palate here on widesmiles.org This one is about: What is Apert Syndrome? (c) 1997 Wide Smiles
This Document is from WideSmiles Website - www.widesmiles.org
Reprint in whole or in part, with out written permission from Wide Smiles
is prohibited. Email: widesmiles@aol.com
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.

54. Untitled
This one is about What is apert syndrome? (2). (c prohibited. Emailwidesmiles@aol.com WHAT IS apert syndrome. by Christine Clark.
http://www.widesmiles.org/cleftlinks/WS-734.html
You'll find hundreds of files on cleft lip, cleft palate here on widesmiles.org This one is about: What is Apert Syndrome? (2) (c) 1997 Wide Smiles
This Document is from WideSmiles Website - www.widesmiles.org
Reprint in whole or in part, with out written permission from Wide Smiles
is prohibited. Email: widesmiles@aol.com
WHAT IS APERT SYNDROME by Christine Clark Apert Syndrome occurs at a ratio of approximately 1:160,000 births. Most cases are new mutations and are not detected until birth. Of course, the chances are 50% if the parent has Apert themselves. Some studies have shown increased paternal age as a factor. The cranial sutures, fingers and toes are fused before birth. The head has grown rather large, the eyebrown ridges are non-existent and the mid-face is retruded. The first cranial surgeries are usually performed within the first 6 months of life to release the coronal sutures and advance the forehead. If necessary, the lambdoid sutures need to be released, too. At around the first year the long process of separating the fingers starts. They are separated in stages to allow healing of the skin grafts (taken from the groin area) and usually spaced about 6 months apart. Eventually the thumbs may need to be straightened since they are usually in a "hitch-hiker" position. The fingers still remain stiff because the joints are fused. Depending on the degree of fusion they may not be able to obtain all digits.

55. Support Groups Apert Syndrome
Support Groups apert syndrome. Teeter's Page What is apert syndrome? Teeter'sStory. 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

56. Apert Syndrome
Back Home Next. apert syndrome. What is apert syndrome Health ConsumerSupport 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

57. Crouzon's Syndrome
Crouzon's and Apert's Syndrome. OVERVIEW. In addition, children withapert 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. Crouzon Syndrome occurs in approximately 1 in 25,000 births. It may be transmitted as an autosomal dominant genetic condition or appear as a fresh mutation ( no affected parents). The appearance of an infant with Crouzons can vary in severity from a mild presentation with subtle midface characteristics to severe forms with multiple cranial sutures fused and marked midface and eye problems.

58. Apert Syndrome [Pediatric Ophthalmology & Strabismus] - Web Atlas Of Ophthalmolo
, apert syndrome. Comments, Related Info, ICD10 code, Image ID,Copyright © Web Atlas of Ophthalmology http//WebJOphthalmol.com. Contributor.......
http://webeyemd.com/wao/wao_PediaStrab_Apert4_300.htm
Home Web Atlas of Ophthalmology Apert Syndrome Glaucoma Neuro-Ophthalmology Description Apert Syndrome Comments Related Info ICD-10 code Image ID http://WebJOphthalmol.com Contributor Johann Michael G. Reyes, MD, DPBO Subspecialty Institution Philippine General Hospital Country Philippines Website Email/Post odjreyes@yahoo.com click here Email webmaster@WebEyeMD.com for comments on this page. Last modified: December 06, 2002

59. Qango : Health: Diseases And Conditions: A: Apert Syndrome
Qango Directory apert syndrome all of Qango only this category Options Help.Home Health Diseases and Conditions A apert syndrome, Suggest a Site.
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60. Birth Disorder Information Directory - A
apert syndrome See Acrocephalopolysyndactyly.htm, Type I. Aphalangia HemivertebraeSee Johnson Munson Syndrome. with Microcephaly with Syndactyly
http://www.bdid.com/defectan.htm

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