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Apert Syndrome:     more detail

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

lists with details

1. What Is Apert Syndrome?
   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.apert.org/apert.htm
   
   Extractions: highly recommended reading! 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. Prematurely fused cranial sutures A retruded midface Fused fingers Fused toes 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 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.

2. Apert Syndrome
   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.  
   http://www.faces-cranio.org/Disord/Apert.htm

3. Apert Syndrome / Family Village Library
   Library A B. apert syndrome.  
   http://www.familyvillage.wisc.edu/lib_aprt.htm
   
   Extractions: The purpose of the list is to allow us to quickly trade information, through email - questions, answers, news about individual surgeries coming up, surgical or genetic breakthroughs, whatever! Our subscribers include adults with Apert and other craniofacial anomalies, parents, physicians, therapists, teachers, friends, and family. Back to [ A - B

4. Apert's Syndrome
   Some links to information on Aperts. apert syndrome Page. Alliance of Genetic Support Groups Adrienne's Page. Apert'sWe Never Heard Of It Either  
   http://members.tripod.com/~bears_4/aperts.html

5. Teeter's Page
   If you or someone you know has apert syndrome like me, or if you have any questions, we would love to What is apert syndrome? Join the Apert Listserv  
   http://www.apert.org/

6. Apert Syndrome
   a CHORUS notecard document about apert syndrome Disclaimer. Feedback. Search. apert syndrome. " acrocephalosyndactyly craniosynostosis (premature sutural fusion) Crouzon syndrome. cloverleaf  
   http://chorus.rad.mcw.edu/doc/00026.html

7. Apert Syndrome
   apert syndrome. About Apert. 9 Jones Street. New York City, NY 10014. Phone (212) 6457038 Contact Augusta. apert syndrome Pen Pals. PO Box 115. Providence, RI 02901. Phone (401) 421-9076 Contact  
   http://www.kumc.edu/gec/support/apert.html

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

9. EMedicine - Apert Syndrome : Article By Harold Chen, MD, MS, FAAP, FACMG
   apert syndrome apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. apert syndrome.  
   http://www.emedicine.com/ped/topic122.htm
   
   Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: July 10, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: acrocephalosyndactyly Apert type, acrocephalosyndactyly type I, type I acrocephalosyndactyly, Apert's syndrome, typical acrocephalosyndactyly AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: 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 Editor(s): James Bowman, MD , Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago;

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

11. 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

12. Swedish Apert Syndrome Info
    Om ansiktsmissbildning.  
    http://apert.org/sweden/
    
    Extractions: 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. 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.

13. OMIM - APERT SYNDROME
    http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=101200

14. Redirect
    http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?101200

15. Entrez PubMed
    Click here to read The paternalage effect in apert syndrome is due, in part, to the increased frequency of mutations in sperm.  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

16. 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
    
    Extractions: 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

17. EMedicine - Apert Syndrome : Article Excerpt By: Harold Chen, MD, MS, FAAP, FACM
    apert syndrome apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. Excerpt from apert syndrome.  
    http://www.emedicine.com/ped/byname/apert-syndrome.htm
    
    Extractions: (advertisement) Synonyms, Key Words, and Related Terms: acrocephalosyndactyly Apert type, acrocephalosyndactyly type I, type I acrocephalosyndactyly, Apert's syndrome, typical acrocephalosyndactyly Background: Apert syndrome is named for the French physician who described the syndrome acrocephalosyndactylia in 1906. Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. It probably is the most familiar and best-described type of acrocephalosyndactyly. Reproductive fitness is low, and more than 98% of cases arise by new mutation. Pathophysiology: During early infancy ( <3 mo), the coronal suture area is closed prematurely. A bony condensation line beginning at the cranial base and extending upward with a characteristic posterior convexity represents this occurrence. Anterior and posterior fontanelles are widely patent. The midline of the calvaria has a gaping defect, extending from the glabellar area to the posterior fontanelle via the metopic suture area, anterior fontanelle, and sagittal suture area. The skull with gaping midline defect appears to permit adequate accommodation of the growing brain. The lambdoidal sutures appear normal in all cases. During the first 2-4 years of life, the midline defect is obliterated by coalescence of the enlarging bony islands without evidence of any proper formation of sutures. An extreme short squama and orbital part of the frontal bone together with the posterior convexity of the coronal bone condensation line suggest that growth inhibition in the sphenofrontal and coronal suture area has its onset very early in fetal life.

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

19. 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

20. AllRefer Health - Apert Syndrome (Acrocephalosyndactyly)
    apert syndrome (Acrocephalosyndactyly) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests  
    http://health.allrefer.com/health/apert-syndrome-info.html
    
    Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Go To Main Page Alternate Names : Acrocephalosyndactyly 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. Syndactyly 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.

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