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This one is about: Arhinia Information


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ARHINIA INFORMATION

By Kristi Branstetter

First of all, I need to explain what arhinia is for those who may not know... Arhinia is the absence of the nose and parts of the olfactory (the sense of smell) system. It's a rare condition that I was born with.

For those of you who were on cleft-talk this past summer, you might remember the abstract that I posted from PubMed called Arhinia Revisited. The article was published in Dec. 1987. I finally ordered that article last week and received it in the mail earlier this week. Was that article a real eye-opener for me!! I had my mom read it too.

The author took 12 cases that had been cited in the literature up thru 1987. (I am not cited in the literature. A promise was made to my parents that I would not be part of any experimentation.)

First of all, the statistics for survival.. Wow!! The 12 cases of arhinia that were cited in the literature.. 4 of the people born with arhinia died. That means that up to 1/3 of people born with this condition die. Those people who died had major brain anomalies.

Secondly, a high incidence of palate anomalies - high arched palate or cleft palate. I was born with a midline cleft (both lip and palate). As stated before, midline clefts are rare and often part of a syndrome.

Furthermore, the absence of olactory bulbs and nerves are always part of arhinia. I do not have the olfactory bulbs and nerves. I cannot smell.. never have, never will. :-) Not being able to smell has its advantages and disadvantages, just like everything else.

Moreover, CNS malformations are often associated with arhinia. I am still trying to figure out what kind of malformations since the author of the publication did not get into what kind of malformations. I know my vision is affected. I have an eye condition called nystagmus, which is the involuntary movement of the eyes. (Earlier this week I found two websites and a mailing list about nystagmus. - It's soo neat to finally be able to chat with others who have this condition.)

Furthermore, there is the absence of paranasal sinuses. The sinuses (paranasal sinuses) are air cavities within the facial bones. The paranasal sinuses are made up of the following:

  Ethmoid Sinus
  Frontal Sinus
  Maxillary Sinus
  Sphenoid Sinus

(The above information came from this URL: http://www.hon.ch/Library/Theme/Allergy/Glossary/sinus.html)

Moreover, the incidence of eye anomalies occurring with arhinia is high. The eye anomalies can include hypertelorism (Abnormally increased distance between the pupils of the eyes), small eyes, coloboma (real short explanation of it at this URL: http://med-aapos.bu.edu/PublicInfo/store2/Coloboma-reply4.06PM.html ), and sensitivity to light.

Another anomaly associated with arhinia is low-set ears.

Because of the low number of cases of arhinia in the literature, the author assumed that there was a high mortality rate from it. The number of people with arhinia is unknown. My PS from France told my parents and I that he had only seen six people with arhinia throughout his practice. He gave us those figures back in the '80s.

I built my arhinia page so I can connect with other families and individuals dealing with it.

http://www.arhinia-craniofacial.org/

I had never seen the term until the mid 1980s when I was mentioned in a newspaper article when I was interviewed as part of my PS' annual visit from France. My current PS uses the diagnosis of arhinia in my file. He is the first one to consistently use it. My PS and the one from France used various terms, such as agenesis of the nose or nasal agenesis (both synonymous with Arhinia). I've seen anosmia (meaning an absence of a sense of smell) and median facial cleft (meaning a cleft in the exact center of my facial structure) used in my medical records.

Sorry to be so long-winded but I have found the article I ordered and my latest surfing on the net to be very helpful in understanding my rare condition called arhinia.

**********
MORE INFORMATION ON ARHINIA:

I thought I would share a little more information with you about arhinia.

It can be total (complete absence of the external nose and all or parts of the olfactory (the sense of smell) system or partial (only parts of the external nose and olfactory system is missing). Partial arhinia is more rare than total arhinia. But both conditions are rare.

There's congenital arhinia (which is my diagnosis) and acquired arhinia (loss of the nose to cancer, infection, or accident). The study that I have based my information concentrated on congenital arhinia only.

I found the embryology to be quiet interesting. I am only going to point out the highlights of it:

A. The forming of the nose begins in the third week and ends in the eighth week of our embryonic life (the first trimester of a pregnancy when the baby is called an embryo).

B. The paranasal sinuses begin developing in the third to fourth month of gestation. (They cannot form when there is the absence of the nasal cavity.)

C. The olfactory system begins development in the sixth week of gestation and then is completed in the 12th week of gestation.

I hope that you have enjoyed the information on arhinia.


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