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

11. Bibliography http://www.orpha.net/consor/cgi- bin/OC_Exp.php?Ing=EN&Expert=1134 http://www.wrongdiagnosis.com/a/arrhinia/glossary.ht m 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;epa ge=154;aulast=Goyal