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
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
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
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
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
Medicine
• No real medicine• Herbal and other
Remedies– Marshmallow Root– Digestion Ginger
Honey Tonic– Aloe Vera Latex and
Leaf Cupules – Psyllium Seed
Impact
• Management of disease is difficult• Can live somewhat normally• Can not do sports• Eating is difficult• Adds to outcast class in some societies
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