1. Apert Syndrome apert syndrome. Who to Contact. Where to Go to Chat with Others http://www.familyvillage.wisc.edu/lib_aprt.htm

Apert Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Apert Syndrome" Who to Contact Apert Syndrome Pen Pals [ASPP] P. O. Box 115 Providence, Rhode Island, USA, 02901 ASPP provides a network for persons with Apert's, their families and friends in which they may share, concerns, information, and get in touch with others with the same problems. Apert Support and Information Network P. O. Box 1184 Fair Oaks, CA 95628 (916) 961-1092 (fax) E-mail Christine Clark at: apertnet@ix.netcom.com The Apert Support and Information Network provides the opportunity to network with individuals and families with Apert Syndrome through a newsletter (Apert News), family get togethers in Northern California and a networking list. Most families are in the USA but contacts are available in other countries as well. Apert Network in New Zealand c/o Ann Luxton and Howard Esler 6 Peter Mulgrew Street Avondale, Auckland 1007 New Zealand Telephone NZ prefix plus 9-627-9137 E-mail: howrdnan@ihug.co.nz

2. Apert Syndrome Frequently asked questions and answers on apert syndrome.Category Health Support Groups Facial Differences apert syndrome......apert syndrome. What is apert syndrome? apert syndrome is a condition involvingdistortions of the head and face and webbing of the hands and feet. http://www.faces-cranio.org/Disord/Apert.htm

The National Craniofacial Association P. O. Box 11082 * Chattanooga, TN 37401 Apert Syndrome What is Apert Syndrome? Apert Syndrome is a condition involving distortions of the head and face and webbing of the hands and feet. Characteristics include: skull - short from back to front, wide on the sides, and overly tall ( craniosynostosis eyes - slightly side-spaced, bulging, the eyelids tilt downward abnormally at the sides face - the mid-face has a sunken-in appearance, the upper jaw slopes backward, lower teeth project in front of the upper teeth hands and feet - webbing and/or fusion including finger bones, toe bones, and joints of fingers and toes Why did this happen? There is no link between anything the mother did or did not do while she was pregnant and the occurrence of Apert Syndrome. Doctors believe Apert Syndrome occurs when a gene mutates early in the pregnancy. Will this happen to children I have in the future? The chances of having another child with Apert Syndrome is almost non-existent if both parents are unaffected. If one parent has Apert Syndrome, there is a 50% chance that his/her children will have Apert Syndrome. What kinds of problems could my child have?

3. Apert's Syndrome Some links to information on Aperts. apert syndrome Page. Alliance of Genetic Support Groups http://members.tripod.com/~bears_4/aperts.html

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Some links to information on Aperts. Apert Syndrome Page Alliance of Genetic Support Groups The Apert Listserver A Special Newsgroup for Special Webtv People Only ... Siblings Count Too!

4. Teeter's Page Teeter's story, and Teeter's Internet friends.Category Health Support Groups Facial Differences apert syndrome...... If you or someone you know has apert syndrome like me, or if you have any questions,we would love to hear from you! What is apert syndrome? Teeter's Story. http://www.apert.org/

Española Versión Française Version ... Versão Hi, hola, kia ora, bonjour, hallo, ciao, aloha! I'm Elizabeth Sears, but all my friends call me Teeter! My mom and dad made this page for me. If you or someone you know has Apert Syndrome like me, or if you have any questions, we would love to hear from you! This Internet safe haven is dedicated to the strength and determination of all of the people with craniofacial differences and their families. This page was created January 1, 1996 on America Online. We grew quickly and moved to our present location on August 10, 1997. You are visitor number This page was updated March 29, 2003. You can make a difference! If you are able to help financially, please visit our charity website at www.apert-international.org

5. What Is Apert Syndrome? Medical information including definition, major and related features of the condition, genetics. http://www.apert.org/apert.htm

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. In a normal child, the skull is made up of several "plates" which remain loosely connected to one another, gradually growing together to form the adult skull. The Apert child's skull, by contrast, has a premature fusion of these plates, restricting brain growth, and causing increased pressure in the brain as it grows. This is known as

6. Apert Syndrome one of 4 Acrocephalosyndactyly Syndromes. Type I apert syndrome. Type II ApertCrouzon Syndrome http://www.icondata.com/health/pedbase/files/APERTSYN.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/21/94 APERT SYNDROME DEFINITION: An acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. EPIDEMIOLOGY: incidence: 1:100,000 - 1:160,000 age of onset: newborn (dysmorphic features) risk factors: familial - autosomal dominant (de novo mutations in most cases) chrom.#: ? gene: ? M = F ? increased paternal age PATHOGENESIS: 1. Background first reported in 1894 by S.W. Wheaton nine cases summarized by Apert in 1906 one of 4 Acrocephalosyndactyly Syndromes Type I: Apert Syndrome Type II: Apert-Crouzon Syndrome Type III: Chotzen Syndrome (Saethre-Chotzen) Type V: Pfeiffer Syndrome different from one of the Acrocephalopolysyndactyly Syndromes Type I: Noack Syndrome Type II: Carpenter Syndrome Type III: Sakati-Nyhan Syndrome Type IV: Goodman Syndrome 2. Genetic Defect genetic defect may also affect the organization of other tissues so assessment for other malformations may be necessary - Type II (Apert-Crouzon Syndrome) is likely a variant of Apert Syndrome with the syndactyly and other digital anomalies of Apert Syndrome but the facial features of Crouzon Syndrome CLINICAL FEATURES: 1. Craniosynostosis

7. Apert Syndrome Resources for individuals with apert syndrome and their families include links, support groups and physician referrals. apert syndrome. About Apert. 9 Jones Street http://www.kumc.edu/gec/support/apert.html

Apert syndrome About Apert 9 Jones Street New York City, NY 10014 Phone: (212) 645-7038 Contact: Augusta Apert Syndrome Pen Pals PO Box 115 Providence, RI 02901 Phone: (401) 421-9076 Contact: Christine Bucci Also See: Organizations for craniofacial conditions Teeter's page - child with Apert Syndrome, links to resources Apert Syndrome Listserv: http://www.apert.org/listserv.htm Genetic Societies Clinical Resources Labs ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

8. Swedish Apert Syndrome Information General information about apert syndrome with photographs of people with the condition. English version follows Swedish text. http://www.apert.org/sweden/index.htm

To live with Aperts syndrome as a child and an adult Apert's syndrome causes impediments for life: Apert's syndrome ( acrocephalo syndactyli = high skull plus joined up fingers and toes ) is a summarized name for a number of deformaties in the facial bones, hands and feet. In addition, the syndrome causes limited movement in the shoulders as well as disturbances in balance. Besides this serious acne can occur during childhood which increases the psychic burden, first and foremost, during the sensetive adolescent years. An uncommon syndrome: Apert's syndrome is unusual. in sweden about one in 160.000 is born with the syndrome. That means about at least one child every other year. The syndrome is often caused by a temporary change in a hereditary factor and later becomes dominautly hereditary. Mental ability varies from normal to low. Most are however normally talented but are subjected to such great strains that some skills cannot develop at a normal pace. Many long and painful modes of tretment. Skull operations: For children born with Apert's syndrome, the surgical and medical treatment is a long and sometimes a very difficult time. The children go through a number of skull operations at Sahlgren Hospital ( Sahlgrenska sjukhuset ) in Gothenburg which has a team of specialists in plastik surgery. The joint work with the odontologic ( dental ) chlinic at the same hospital is very important as extensive adjustment of the teeth is necessary in order to obtain a good result. Added to this, naturally is continnius contact with the lokal child rehabilization centers and clinics.

9. Space Coast Early Intervention Center A nationally recognized notfor-profit pre-school and therapeutic center for families and children with Down syndrome, William's syndrome, Rett syndrome, Cerebral palsy, Autism, P-4 Deletion syndrome, PDD and apert syndrome. http://www.scbn.com/sceic.html

10. Apert Syndrome apert syndrome OnLine Discussion Groups. Mailing Lists. Apert Tojoin send an e-mail message to listserv@listserv.aol.com In the http://www.familyvillage.wisc.edu/lists/apert-syndrome.html

Apert Syndrome On-Line Discussion Groups Mailing Lists Apert To join send an e-mail message to: listserv@listserv.aol.com In the body of the message type: Subscribe Apert Your Name If you know of an on-line discussion group that should be added to the list, please send a note to Linda Rowley at: rowley@waisman.wisc.edu Last updated 13-March-1997 by rowley@waisman.wisc.edu.

11. OMIM ENTRY 101200 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z . apert syndrome http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?101200

12. TJ's Journal - Learning About Apert Syndrome About apert syndrome and how it has affected the life of a baby boy named TJ and his family. http://www.califariel.com/tj/index.html

Welcome, Family and Friends to... TJ's Progress TJ's Family Contact Us About Apert Syndrome ... E-mail Us CF Webring is on the ASLinks Page TJ's visitors count FastCounter by bCentral Update on TJ - 11/25/2000 Well, Taylor's coming upon a year old now, and he's been through quite a lot. This little boy has been the strongest person we've ever known... Read more progress Hi - I'm TJ . My full name is Taylor Jacob Wilson, and I was born on December 15, 1999. I weighed 9.2 lbs. and was 21 inches long. I guess you could say I'm a pretty special baby. You see, I was born with Apert Syndrome . You'd probably think I was very unlucky, but the truth is, I have so much love and help surrounding me from all my family and friends, that I feel very lucky in spite of my disorder. I have a long and serious journey ahead of me. My parents, Mark and Cynthia Wilson, have spent a tremendous amount of time educating themselves and fighting for the right care for me. I spent a good portion of my first month in and out of hospitals learning to eat and breathe (two very important things, my mom said). I have been gaining weight and sleeping a little more. Apert Syndrome is extremely rare. Recent figures show less than 200 cases in the U.S.. It's classified more commonly as a craniofacial disorder, and for me that means lots of operations with the 1st one now complete and the next one in 3 months

13. Special Child: Disorder Zone Archives - Apert Syndrome apert syndrome Nicholas Graves. Introduction. apert syndrome is a rare genetic disorderthat is characterized by specific craniofacial and limb abnormalities. http://www.specialchild.com/archives/dz-020.html

Disorder Zone Archives Apert Syndrome Nicholas Graves Emily Krebs Introduction Apert syndrome is a rare genetic disorder that is characterized by specific craniofacial and limb abnormalities. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. The mutation can be inherited from a parent who has Apert syndrome or it can be a spontaneous (new) mutation. Studies show that Apert syndrome tends to occur more often in children with older fathers. Furthermore, all new mutations (those that have not been inherited by an affected parent) have been shown to occur exclusively in the FGFR2 gene received by the father. Apert syndrome occurs in 1 out of 100,000 to 160,000 live births and affects males and females equally. The first reported case of the syndrome was in 1848 by S.W. Wheaton, and in 1906, a French physician named E. Apert described nine cases and defined the syndrome. Features and Characteristics The following characteristics have been found in children with Apert syndrome: Prematurely fused cranial sutures Retruded (or sunken) mid-face Fused fingers Fused toes Brachycephaly (short wide head) Acrocephaly (high prominent forehead) Flattened back of skull Prominent eyes - may be spaced widely apart or slant downward Strabismus Prominent mandible Depressed nasal bridge and small anteverted nose Down-turned corners of the mouth Low set ears (as well as hearing loss) Cleft palate Severe acne in teens Hydrocephalus Dental abnormalities (malposition of the teeth, crowding of the teeth, delayed tooth eruption, high-arched narrow palate, thickened ridges that support the teeth)

14. Krista's Page Written by her father, this contains biographical detail about living with apert syndrome. http://www.apert.org/horning/index.htm

Krista was born July 21, 1987. We had no idea that there was any kind of problem until she was born and, of course, had never heard of Aperts Syndrome. In addition to the usual problems with the head, fingers and toes Krista had choanal atresia (bone completely blocking the inside of her nose) and fused elbows and shoulders. She has had over 30 operations; more than half were in her first couple years on her nose to get it open and keep it that way. Just last summer (1996) she had some rebuilding done inside her nose and was finally able to breath through it! Krista is in third grade. She went to a small private school for the first years. It helped her a lot to have the smaller class size. This year we are home schooling Krista to give her a more one-on-one setting, less distraction, and more flexibility in working on some areas. Her favorite subjects are spelling and English. She likes to read. Her favorite books are the Bible and "Charlotte's Web." Last year she did a display on surgery for her science fair and did a great job. She got first place in her class and 49 out of 50 at the regional/state contest. She obviously knew her subject. I think it was the most that some people had ever seen her talk (she's a little shy). She also likes drawing and coloring - she wants to be an artist when she grows up. Krista's fused elbows and shoulders, and stiffness in her hips and ankles make it hard to do a lot of activities. One sport she has been able to do is downhill skiing. A local organization teaches skiing to disabled people using adaptive equipment and volunteer helpers. Krista started when she was 5 and has used less extra equipment each year. Just this year she made it down the "big hill" (at least it's big for Minnesota) all on her own! An extra treat is that Bob (dad) is her helper.

15. MEDLINEplus Medical Encyclopedia: 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.nlm.nih.gov/medlineplus/ency/article/001581.htm

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 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, 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): Carpenter syndrome (kleeblattschadel, cloverleaf skull deformity)

16. Intro Screen... Written by father of child with apert syndrome. Contains biographical detail, and links to apert syndrome stories and support sites. http://members.aol.com/ApertSyn/index.html

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17. Apert Syndrome apert syndrome. acrocephalosyndactyly . acrocephaly (coronal craniosynostosis);syndactyly. Charles E. Kahn, Jr., MD 2 February 1995 Last updated 14 March 2001. http://chorus.rad.mcw.edu/doc/00026.html

CHORUS Collaborative Hypertext of Radiology Nervous system Feedback Search Apert syndrome "acrocephalosyndactyly" acrocephaly (coronal craniosynostosis syndactyly Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

18. Apert Syndrome apert syndrome. acrocephalosyndactyly . acrocephaly (coronal craniosynostosis);syndactyly. Home Nervous system Disclaimer © 2002, CE Kahn, Jr. 200204-18. http://chorus.rad.mcw.edu/to-go/00026.html

Apert syndrome "acrocephalosyndactyly" acrocephaly (coronal craniosynostosis syndactyly Home Nervous system

19. Facial/ Craniofacial Anomalies apert syndrome, Arhinia (absent nose), Blepharophimosis, Crouzon Syndrome,ear anomalies,Goldenhar Syndrome (hemifacial microsomia), Cleft Lip, Cleft Palate http://www.kumc.edu/gec/support/facial_d.html

Facial anomalies / Craniofacial conditions Apert Syndrome , Arhinia (absent nose) , Blepharophimosis, Crouzon Syndrome ear anomalies Goldenhar Syndrome (hemifacial microsomia) ... Cleft Lip, Cleft Palate Jackson-Weiss, Kabuki Syndrome Nager Miller Syndrome neurofibromatosis , Microtia (Ear Atresia) , Moebius Syndrome, Opitz, Pierre Robin Syndrome Robinow Syndrome , Romberg Syndrome, Stickler Syndrome, Sturge-Weber Syndrome, Treacher Collins syndrome , and other conditions AboutFace International, information and emotional support to individuals with facial differences and their families 123 Edward St., Suite 1003 Toronto, Ontario, Canada M5G 1E2 Phone: 416.597.2229 or 1.800.665.3223 (FACE) Fax: 416.597.8494 E-mail: info@aboutfaceinternational.org Web site: www.aboutfaceinternational.org/main.html Syndromes and Conditions Craniosynostosis and Positional Plagiocephaly Support Web site: www.CAPS2000.org Children's Craniofacial Association PO Box 280297 Dallas, TX 75243-4522 (Tel) 972-994-9902 (Fax) 972-240-7607 Web Site: www.ccakids.com

20. 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.

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