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Arrhinia

Arrhinia. A Genetics Presentation by Robin Parker and Alexis Burnham. Definition. Arrhinia is defined as the cogenital absence of a nose. Types. Two types of Arrhinia: Total Arrhinia- two non-functioning nasal passages Hemi Arrhinia- one non-functioning nasal passage. Hemi Arrhinia.

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Arrhinia

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  1. Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

  2. Definition Arrhinia is defined as the cogenital absence of a nose

  3. Types • Two types of Arrhinia: • Total Arrhinia- two non-functioning nasal passages • Hemi Arrhinia- one non-functioning nasal passage Hemi Arrhinia

  4. Symptoms • Loss of smell • Loss of taste • Respiratory distress • May also be missing olfactory bulbs and sinuses • Palatal Abnormalities • hypogonadotropic hypogonadism with cryptorchidism • Small or widely spaced eyes • Digestion Problems

  5. Causes • Possible causes include: • Failure of the development of nasal placodes • Premature fusion of the medial nasal process • Lack of resorption of nasal epithelial plugs • Abnormal migration of the neural crest cells

  6. Location of Defective Gene Scientists are still researching the location of the defective gene In two cases, chromosome 9 anomalies have been reported In one case, a de novo reciprocal translocation between chromosome 3q13.2 and 12p11.2 were found

  7. Treatment • Facial reconstruction • CT and MRI scans very important to plan surgery • Treatment of airway obstruction and feeding difficulties • Canalization of nasal passage or tracheostomy • Multidisciplinary approach is essential along with expert neonatal medical and surgical care for the management

  8. Medicine • No real medicine • Herbal and other Remedies • Marshmallow Root • Digestion Ginger Honey Tonic • Aloe Vera Latex and Leaf Cupules • Psyllium Seed

  9. Impact • Management of disease is difficult • Can live somewhat normally • Can not do sports • Eating is difficult • Adds to outcast class in some societies

  10. Bibliography • http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Ing=EN&Expert=1134 • http://www.wrongdiagnosis.com/a/arrhinia/glossary.htm • http://www.ingentaconnect.com/content/apl/spla/2009/00000043/00000004/art00001 • http://www.shahfacialplastics.com/congenital-anomalies.htm • http://www.satemaster.com/encyclopedia/Arrhinia • http://www.jiaps.com/article.asp?issn=0971-9261;year=2008;volume=13;issue=4;spage=153;epage=154;aulast=Goyal

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