PPT-Apert Syndrome and FGFR2

Sophia Lenzmeier University of WisconsinMadison What are the symptoms of Apert Syndrome acrocephalo syndactyly tall or peaked skull amp fused digits What gene is mutated in Apert Syndrome. Julie A. Dunlap, MS, CCC-SLP. SPHSC . 543. Winter 2010. Genetic Diseases. ~3-4% of all children are born with a major genetic or congenital disease . Not only extremely rare diseases. Importance of correct diagnosis. Knowledge Network. Accelerate . cancer R&D. By efficiently searching for treatments and cures. By learning from . every. patient both retrospectively and prospectively. By shattering the silos to share . therapies . for . cholangiocarcinoma. Professor Juan . W Valle. Professor & Honorary Consultant in Medical Oncology. The Christie NHS Foundation . Trust . University of . Manchester. 11. th. May 2017. gene . family aberrations in. cholangiocarcinoma. Katsuyuki Miyabe, MD, PhD. . Lewis R. . Roberts, MB ChB, PhD. . Introduction. I enrolled . in . Medical School and Graduate School in Japan. During my training I became aware of the enormous amount . CCF Grantee Webinar Series . I. 10-26-15 . Daniela Sia, PhD. Icahn . School of Medicine at Mount Sinai. Mount Sinai Liver Cancer Program . Divisions of Liver Diseases. New York, . NY. daniela.sia@mssm.edu. S.C. Dipole: . Magnetic design . v. er. 5. Vittorio Marinozzi & Massimo Sorbi. o. n . behalf. of: . INFN LASA & Genova Team. Giovanni . Bellomo. , Pasquale . Fabbricarore. , Stefania . Farinon. Apert SyndromeSaikat Datta Sandip Saha Arnab KarAbstractApert syndrome is one of the craniosynostosis syndromes which due to its association with other skeletal anomalies is also known as acrocephalos Sophia Lenzmeier . Key features of Apert Syndrome. acrocephalo. syndactyly. tall or peaked skull . & . fused digits. Fusion of cranial sutures and associated symptoms. Sutures normally act as expansion joints allowing for stretching when the brain grows. Page 1 of 3 Apert syndrome : information for families Apert syndrome is a type of complex craniosynostosis named after the doctor who first described it in the early 20th century. As well as the sk l of Health Sciences & Research (www.ijhsr.org) 294 Vol.8; Issue: 10; October 2018 International Journal of Health Sciences and Research www.ijhsr.org ISSN: 2249 - 9571 Case Report Apert Syndrome with A guide to diagnosis and treatment 2 A Guide to the Diagnosis and Treatment of Apert Syndrome A Guide to the Diagnosis and Treatment of Apert Syndrome H aving a child born with Apert syndrome may feel 1 - 2013 Background Information ApertAsyndromeA(AS)AisAaAgene�cAdisorderAthatA a�ectsAtheAbody’sAgrowthAandAdevelopmentAinA manyAways.AASAimpactsAtheAgrowthAofAtheAbonesAofA t 1163 IInntteerrnnaattiioonnaall JJoouurrnnaall ooff BBiioollooggiiccaall mediates signaling for FGFs. Recent studies detected various point mutations of FGFR2 in multiple types of cancers, includ A. pert. syndrome. Kaivalya Dandamudi. BIRTH DEFECTS. A SEVERE PROBLEM. 1 in 33 newborns in the U.S. are born with birth defects . Craniofacial birth defects make up 1/3 of birth defects. (. Center for Disease Control and Prevention, .