By Bloch-Zupan, Agnes (Auth.)
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Extra info for Dento/Oro/Craniofacial Anomalies and Genetics
Reference Centre for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, F Clauss. 2 Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) Definition The syndrome consists of abnormal development of ectoderm-derived structures such as skin, skin appendages and teeth, and a broad spectrum of infectious diseases . 32 Dento/Oro/Craniofacial Anomalies and Genetics OMIM Number #300291 #612132 X linked AD anhidrotic ectodermal dysplasia with T-cell immunodeficiency Prevalence Not yet determined.
CHARGE (coloboma, heart defects, choenal atresia, retarded growth and development, genital hypoplasia, ear anomalies and deafness) syndrome is due to mutations in CHD7 gene encoding chromodomain helicase DNA-binding protein 7. No evidence yet links CHD7 to single central incisor phenotype. Animal Models/Main Features Growth arrest specific 1 (Gas1) encodes a membrane glycoprotein previously identified as a Shh antagonist in the somite. Gas1(/) mice exhibited microform HPE, including midfacial hypoplasia, premaxillary incisor fusion, and cleft palate, in addition to severe ear defects; however, the forebrain remained intact.
The hard palate is divided by deep lateral grooves into three segments. – The anterior segment contains the incisors and the canines, the rest of the dentition is contained into two lateral palatal segments. – Asymmetrical cleft soft palate is seen in around 80% of patients. – The most striking intraoral finding is a bi- or tri-lobulated tongue. – A small white harmatomatous node can be found in 70% of patients between the abnormal tongue lobes. Histologically this node is composed of fibrous connective tissue containing salivary glands, fat, smooth muscle fibres and even cartilage.