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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

Acrocephalopolysyndactyly (Carpenter's Syndrome)
Case study (includes photos, ultrasounds, MRIs); Type I (apert syndrome,Noack Syndrome) apert syndrome; apert syndrome; apert syndrome;
http://www.bdid.com/acrocephalopolysyndactyly.htm
Apert Syndrome
Tips for printing. apert syndrome Acrocephalosyndactyly Special ResourcesSOS Ask experts or consultants for information apert syndrome.
http://ibis-birthdefects.org/start/apert.htm
Health Consumer Support Groups Facial Differences Apert Syndrome Polish Yellow P
Health Consumer Support Groups Facial Differencesapert syndrome 58493 Polish Yellow Pages YP.pl.
http://www.yellowpages.pl/ca/58493/Health/Consumer_Support_Groups/Facial_Differe
University Of Miami School Of Medicine - Glossary - Apert Syndrome
Medical Dictionary. apert syndrome. apert syndrome The bestknowntype of acrocephalosyndactyly is apert syndrome which is due to
http://www.med.miami.edu/patients/glossary/art.asp?articlekey=6575
University Of Miami School Of Medicine - Glossary - Apert Syndrome Acrocephalosy
apert syndrome acrocephalosyndactyly. apert syndrome acrocephalosyndactyly An inheriteddisorder causing abnormalities of the skull, face and hands and feet.
http://www.med.miami.edu/patients/glossary/art.asp?articlekey=6605
Hospital Links
apert syndrome. Back. apert syndrome is one of the craniofacial conditionsthat fall into the group called craniofacial dysostosis syndromes.
http://headlines.org.uk/Aperts.htm

Extractions: APERT syndrome is one of the craniofacial conditions that fall into the group called craniofacial dysostosis syndromes. It was first described in the early 1900's by the French paediatrician Eugene Apert. Apert's syndrome predominantly affects the head, face and limbs. Apert's syndrome presents with a number of typical features. The child with Apert's syndrome usually enters a co-ordinated programme of care involving many different clinical specialities integrating the various expertises. Common features regressed mid-face and shallow orbits (eye sockets), this may result in a small or constricted airway and the appearance of a large lower jaw. Seen from the side the face has a concave appearance and the shallow orbits result in prominent eyeballs (proptosis), arrangement of teeth (dentition) is also affected. the abnormal skull shape may result in raised intracranial pressure and require surgery to protect the restricted brain. fusion of fingers and toes ( syndactyly ) this can vary from fusion of the centre three digits to complete fusion of the bones and nails of all five digits.
Support Material
Reconstructive Surgery. B1 'Hands and feet in the apert syndrome', Cohenet al, AJOMG 578296 (1995). B2 'Craniosynostoses Phenotypic
http://headlines.org.uk/Medical.htm

Extractions: PRS Plastic and Reconstructive Surgery 'Hands and feet in the Apert Syndrome', Cohen et al, AJOMG 57:82-96 (1995). 'Craniosynostoses: Phenotypic/Molecular Correlations', Cohen, AJOMG 56:334-339 (1995). 'Craniosynostosis Update 1987', Cohen, AJOMG Supplement 4:99-148 (1988), [short term loan only] 'Pfeiffer Syndrome Update, Clinical subtypes, and guidelines for differential diagnosis', Cohen, AJOMG 45:300-307 (1993). 'Visceral Anomalies in the Apert Syndrome', Cohen et al, AJOMG 45:758-760 (1993). 'Growth Pattern in the Apert Syndrome', Cohen et al, AJOMG 47:617-623 (1993).
Avera Health - Apert Syndrome
apert syndrome. Definition A genetic test for mutations in the fibroblast growthfactor receptor 2 gene can confirm the diagnosis of apert syndrome.
http://www.avera.org/adam/ency/article/001581.htm

Extractions: 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.
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://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid
Health Library - Apert Syndrome
apert syndrome. Self Help Clearinghouse. Apert Support and Information Network.International network. apert syndrome Pen Pals. National network.
http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29ape
Page Not Found
apert syndrome. Syndrome, apert syndrome. Gene Name, Fibroblast growthfactor receptor2. Gene Symbol, FGFR2. OMIM Number of the Gene, 176943.
http://www.nidr.nih.gov/cranio/detail/101200.htm
Health Library - Apert Syndrome
apert syndrome. Self Help Clearinghouse. Apert Support and Information Network.International network. apert syndrome Pen Pals. National network.
http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29a
Second Branchial Arch
apert syndrome Deepa V Suvarna*, Dhaara Chheda**, Waheeda B Pagarkar***, AnaghaVjayakar *** *Lecturer; **Registrar; ***Associate Prof; ****Prof; Dept.
http://www.bhj.org/journal/1999_4101_jan99/case_187.htm
Apert Syndrome Resources On The Internet
HealthCyclopedia, apert syndrome. Health News, Web Directory Web Links Andrew'sJourney with Apert's Written by father of child with apert syndrome.
http://www.healthcyclopedia.com/apert_syndrome.html

Extractions: The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report
VITAE13 - Obstetricia-Pediatría
Birth prevalence study of the apert syndrome. Am J Med Genet 1992;42655659. WilkieAOM. Kim H, Uppal V, Wallach R. apert syndrome and fetal hydrocephaly.
http://caibco.ucv.ve/Vitae/VitaeTrece/CasosClinicos/GinecologiaPediatria/Archivo
Health Library - Apert Syndrome
Saint Luke's Health System eLibrary. apert syndrome. Self Help Clearinghouse. ApertSupport and Information Network. apert syndrome Pen Pals. National network.
http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29
The Ornitz Laboratory
The Etiology of apert syndrome Premature ossification and fusion of the suturesbetween the developing flat bones of the skull; osseous fusion of digits and
http://molecool.wustl.edu/Ornitz/apert.htm

Extractions: The Etiology of Apert Syndrome: Premature ossification and fusion of the sutures between the developing flat bones of the skull; osseous fusion of digits and phalangeal joints and soft-tissue syndactyly in hands and feet; as well as central nervous system malformations and mental retardation. Click the image at right for some examples from Holten et al., 1997. The Cause of Apert Syndrome: Apert syndrome is caused by ectopic autocrine activation of FGFR2 within mesenchymal and possibly epithelial tissues. Missense substitutions allow mesenchymal splice forms of FGFR2 to be activated by mesenchymally expressed ligands. Click on the image at left for more information. Molecular Defects of Apert Syndrome: FGF7 activates FGFR2c/S252W: All of the Apert Syndrome images and information featured on this web page are related to the recent publication of Yu, K., Herr, A. B., Waksman, G. and Ornitz, D. M. (2000). Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc. Natl. Acad. Sci. USA 97: 14536-14541.
ScienceDaily News Release: Disease-Causing Genetic Mutations In Sperm Increase W
The disease, apert syndrome, leads to webbed fingers and early fusion of the skullbones and must be corrected by surgery. Search Our Archives. Keywords
http://www.sciencedaily.com/releases/2002/10/021018080014.htm

Extractions: Previous Story ... Related Stories Next Story Source: Johns Hopkins Medical Institutions Date: Scientists from the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins may have discovered why a rare genetic disease is more common in children born to older fathers. The disease, Apert syndrome, leads to webbed fingers and early fusion of the skull bones and must be corrected by surgery. While Apert syndrome itself affects only 1 in 160,000 births, the scientists believe their findings could extend to many of the 20 or so other genetic conditions similarly linked to older fathers. The researchers are scheduled to present their findings Oct. 17 at the annual meeting of the American Society for Human Genetics in Baltimore. "It makes sense that the mutations causing these diseases would occur more frequently in older men, and indeed that's what we saw for Apert syndrome," says Ethylin Jabs, M.D., director of the Center for Craniofacial Development and Disorders at Johns Hopkins.
Mioti: Medical Condition
Condition apert syndrome. MEDLINEplus apert syndrome. NORD apert syndrome.Information from the National Organization for Rare Disorders.
http://www.mioti.com/cat/condition/condition.asp?Cat=ApertSyndrome
Cleft Lip And Palate - Related Syndromes [from CLAPA Ireland]
Read more apert syndrome apert syndrome (AP) is a rare genetic disorder whichinvolves distortion of the head and face and webbing of the hands and feet.
http://www.cleft.ie/related/

Extractions: Note: The large differences in the figures reported above may be due to the distinction between what constitutes a syndrome and what constitutes a malformation. A syndrome is where a number of conditions exist together, while referral to associated malformations may actually indicate a single condition existing in association with a cleft. [Eddie Byrne] Included are details of but a few known syndromes.

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