Arrhinia: Difference between revisions

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{{Infobox medical condition (new)
{{SI}}
| name            = Arhinia
{{Infobox medical condition
| synonyms        = '''Nasal agenesis'''
| name            = Arrhinia
| pronounce      = {{IPAc-en|ə|ˈ|r|ɪ|n|i|ə}} or {{IPAc-en|ə|ˈ|r|aɪ|n|i|ə}}
| image          = [[File:Arhinia.jpg]]
| field          =  
| caption        = Facial appearance of a person with arrhinia
| image          = Arhinia.jpg
| field          = [[Otorhinolaryngology]]
| alt            =
| synonyms        = Congenital arhinia
| caption        = Neonate with partial arhinia.
| symptoms        = Absence of the [[nose]]
| symptoms        =  
| complications  = [[Respiratory distress]], [[feeding difficulties]]
| complications  =  
| onset          = [[Congenital disorder|Congenital]]
| onset          =  
| duration        = Lifelong
| duration        =  
| causes          = [[Genetic mutation]]
| types          =
| risks          = [[Family history]]
| causes          =  
| diagnosis      = [[Physical examination]], [[imaging studies]]
| risks          =  
| differential    = [[Holoprosencephaly]], [[nasal hypoplasia]]
| diagnosis      =  
| prevention      = None
| differential    =  
| treatment      = [[Surgical reconstruction]], [[tracheostomy]]
| prevention      =  
| prognosis      = Variable, depends on associated anomalies
| treatment      =  
| frequency      = Extremely rare
| medication      =
| prognosis      =  
| frequency      =  
| deaths          =
}}
}}
'''Arhinia''' is the [[congenital]] partial or complete absence of the [[Human nose|nose]] at birth. It is an extremely rare condition, with few reported cases in the history of modern medicine.<ref name=Albernaz>{{cite journal|title=Congenital Arhinia|last=Albernaz|first=Vanessa|author2=Mauricio Castillo|author3=Suresh K. Mukherji|author4=Ismail H. Ihmeidan|url=http://www.ajnr.org/cgi/reprint/17/7/1312.pdf|journal=American Journal of Neuroradiology|date=30 October 2005|volume=17|issue=7|pages=1312–1314|pmid=8871717}}</ref>  It is generally classified as a [[craniofacial abnormalities|craniofacial abnormality]].
== Arrhinia ==
 
[[File:Arhinia.jpg|left|thumb|A clinical image showing a case of arrhinia.]]
==Cause==
'''Arrhinia''' is a rare congenital condition characterized by the complete absence of the nose. This condition is also known as "arhinia" and is a form of facial dysmorphism. Arrhinia can occur as an isolated anomaly or as part of a syndrome involving other craniofacial abnormalities.
The cause of arrhinia is not known.<ref name=Albernaz/><ref name=Akkuzu>{{cite journal|journal=Journal of Medical Case Reports|title=Congenital partial arhinia: a case report|last=Akkuzu|volume=1|first=Guzin|pages=97 |author2=Babur Akkuzu |author3=Erdinc Aydin |author4=Murat Derbent |author5=Levent Ozluoglu|date=20 September 2007|doi=10.1186/1752-1947-1-97|pmid=17883831|issue=1|pmc=2064923}}</ref>  Akkuzu's study of the literature found that all cases had presented a normal antenatal history.<ref name=Akkuzu/>
== Presentation ==
==Diagnosis==
Individuals with arrhinia are born without external nasal structures, and the nasal passages are absent or underdeveloped. This can lead to significant respiratory challenges, as the nose plays a crucial role in breathing, humidifying, and filtering air. In addition to respiratory issues, arrhinia can affect the sense of smell and may be associated with other craniofacial anomalies.
{{Empty section|date=November 2017}}
== Causes ==
 
The exact cause of arrhinia is not well understood, but it is believed to result from disruptions in the normal development of the facial structures during embryogenesis. Genetic factors may play a role, and some cases have been associated with chromosomal abnormalities or specific genetic mutations.
==Treatment==
== Diagnosis ==
Treatment focuses on identifying the nature of the anomalies through various imaging methods, including [[MRI]] and [[CAT scan]], and surgical correction to the extent possible.<ref name=Akkuzu/>
[[File:Roland_Cyclopie_2.jpg|left|thumb|A historical depiction of cyclopia, a condition sometimes associated with arrhinia.]]
 
Diagnosis of arrhinia is typically made at birth based on the physical appearance of the infant. Imaging studies, such as CT or MRI scans, can be used to assess the extent of the nasal and craniofacial abnormalities. Genetic testing may be conducted to identify any underlying genetic causes.
==References==
== Treatment ==
{{reflist}}
Management of arrhinia involves addressing the functional and aesthetic challenges associated with the condition. Surgical interventions may be necessary to create a nasal passage and improve breathing. Reconstructive surgery can also be performed to enhance facial appearance. Multidisciplinary care, including input from otolaryngologists, plastic surgeons, and geneticists, is often required.
 
== Prognosis ==
== External links ==
The prognosis for individuals with arrhinia varies depending on the severity of the condition and the presence of associated anomalies. With appropriate medical and surgical management, many individuals can lead healthy lives, although ongoing medical care may be necessary.
{{Medical resources
== See also ==
|  DiseasesDB      =
* [[Congenital disorder]]
|  ICD10          = Q30.1
* [[Craniofacial abnormalities]]
|  ICD9            = {{ICD9|748.1}}
* [[Genetic disorder]]
|  ICDO            =
[[Category:Congenital disorders]]
|  OMIM            =
[[Category:Craniofacial disorders]]
|  MedlinePlus    =
|  eMedicineSubj  =
|  eMedicineTopic  =
|  MeshID          =
| Orphanet=1134
}}
* [http://www.orpha.net/static/GB/arrhinia.html Arrhinia]
 
{{Congenital malformations and deformations of respiratory system}}
{{Use dmy dates|date=March 2017}}
 
[[Category:Congenital disorders of respiratory system]]
[[Category:Rare diseases]]
{{dictionary-stub1}}

Latest revision as of 16:55, 4 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Arrhinia
Synonyms Congenital arhinia
Pronounce N/A
Specialty N/A
Symptoms Absence of the nose
Complications Respiratory distress, feeding difficulties
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history
Diagnosis Physical examination, imaging studies
Differential diagnosis Holoprosencephaly, nasal hypoplasia
Prevention None
Treatment Surgical reconstruction, tracheostomy
Medication N/A
Prognosis Variable, depends on associated anomalies
Frequency Extremely rare
Deaths N/A


Arrhinia[edit]

A clinical image showing a case of arrhinia.

Arrhinia is a rare congenital condition characterized by the complete absence of the nose. This condition is also known as "arhinia" and is a form of facial dysmorphism. Arrhinia can occur as an isolated anomaly or as part of a syndrome involving other craniofacial abnormalities.

Presentation[edit]

Individuals with arrhinia are born without external nasal structures, and the nasal passages are absent or underdeveloped. This can lead to significant respiratory challenges, as the nose plays a crucial role in breathing, humidifying, and filtering air. In addition to respiratory issues, arrhinia can affect the sense of smell and may be associated with other craniofacial anomalies.

Causes[edit]

The exact cause of arrhinia is not well understood, but it is believed to result from disruptions in the normal development of the facial structures during embryogenesis. Genetic factors may play a role, and some cases have been associated with chromosomal abnormalities or specific genetic mutations.

Diagnosis[edit]

A historical depiction of cyclopia, a condition sometimes associated with arrhinia.

Diagnosis of arrhinia is typically made at birth based on the physical appearance of the infant. Imaging studies, such as CT or MRI scans, can be used to assess the extent of the nasal and craniofacial abnormalities. Genetic testing may be conducted to identify any underlying genetic causes.

Treatment[edit]

Management of arrhinia involves addressing the functional and aesthetic challenges associated with the condition. Surgical interventions may be necessary to create a nasal passage and improve breathing. Reconstructive surgery can also be performed to enhance facial appearance. Multidisciplinary care, including input from otolaryngologists, plastic surgeons, and geneticists, is often required.

Prognosis[edit]

The prognosis for individuals with arrhinia varies depending on the severity of the condition and the presence of associated anomalies. With appropriate medical and surgical management, many individuals can lead healthy lives, although ongoing medical care may be necessary.

See also[edit]