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Digeorge Syndrome VCFS 22q11.2 - Home
What is Velocardiofacial Syndrome (VCFS)? Velocardiofacial syndrome (VCFS) is a genetic disorder named for its major features which typically include cleft palate or soft palate dysfunction (VELO), congenital cardiac defects (CARDIO), and characteristic facial appearance (FACIAL), by Robert Shprintzen, Ph.D., a speech-language pathologist, in 1978. VCFS is a clinical (or "phenotypic") diagnosis for the underlying genetic disorder called a chromosomal "22q11.2 deletion.". What is DiGeorge syndrome (DGS)?
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22q11 Hearts of Hope Foundation |
Welcome to 22Q11 Hearts of Hope. Perhaps you have found our website because. You or someone in your family has been diagnosed. With 22q11 deletion syndrome. If you are a teacher,. Physician, or a parent of a child with 22q11, please. Read through our information. We hope you will find. What is 22q11 DELETION SYNDROME? Because the signs and symptoms of 22q11 deletion syndrome are so varied, other names such as: DiGeore Syndrome, VCFS (velo cardio facial syndrome) and Shprintzen Syndrome are used to descri...
22q11 Ireland
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Velo-cardio-facial syndrome, also called 22q11.2 deletion syndrome, is caused by a small missing piece of genetic material from one copy of chromosome 22. Having even a small part of missing material may increase the risk of congenital anomalies, developmental delay and learning difficulties. The problems vary from person to person. We are a group of parents and professionals caring for children and adults with Chromosome 22q11.2 Deletion Syndrome.
le site de Camille et de l'association française du Syndrome Phelan-McDermid
Herzlich willkommen... | Deutsche Plattform für das Phelan-McDermid Syndrom
Deutsche Plattform für das Phelan-McDermid Syndrom. Was ist das Phelan-McDermid-Syndrom? The Phelan-McDermid Syndrom Foundation (PMS/PMD). Auf der Homepage des Vereins Phelan-McDermid-Gesellschaft e.V! Frisch gegründet wagen wir den Schritt von der Selbsthilfegruppe zum Verein!
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PMSF - The Phelan-McDermid Syndrome Foundation Welcomes You To Our Official Site
What is Phelan-McDermid Syndrome? For PMSF Office use only. Click on the image above for more info) . . Click on the image above for more info). An International Alliance of Support and Science". PMSF International Family, Research Conference. July 20-23, 2016, in Orlando, Fla. Download our free PMSF conference phone app through the App Store. Traveling this summer with a child who has PMS? Planning can relieve some of the stress. Special toys and blankets must be packed to make our children feel at home...
Asociación Síndrome Phelan-McDermid
El Síndrome de Phelan-McDermid, o deleción del cromosoma 22q13, es una condición genética considerada enfermedad rara. Está causada en la mayoría de casos por la pérdida de material genético del extremo terminal del cromosoma 22. Esta pérdida se produce durante la división celular, cuando los cromosomas se alinean y replican, algunos de ellos se rompen y se pierden. Discapacidad intelectual de diversos grados. Ausencia o retraso del habla. Síntomas de autismo o Trastorno del Espectro Autista. Dolicocefal...