arrhinia a genetics presentation by robin parker and alexis burnham

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Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

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Page 1: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

Arrhinia

A Genetics Presentation

by Robin Parker and Alexis Burnham

Page 2: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

Definition

Arrhinia is defined as the cogenital absence of a nose

Page 3: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

Types

• Two types of Arrhinia:– Total Arrhinia- two

non-functioning nasal passages

– Hemi Arrhinia- one non-functioning nasal passage

Hemi Arrhinia

Page 4: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

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

Page 5: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

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

Page 6: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

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

Page 7: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

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

Page 8: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

Medicine

• No real medicine• Herbal and other

Remedies– Marshmallow Root– Digestion Ginger

Honey Tonic– Aloe Vera Latex and

Leaf Cupules – Psyllium Seed

Page 9: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

Impact

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

Page 11: Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham

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