Arhinia: congenital

Extremely rare. Agenesis of the nose, to be distinguished from the absence of the bones of the nose [MIM 161 480], that is also very rare but the  consequences of which are only aesthetic. Unknown etiology: this anomaly is generally sporadic, but some familial cases of autosomal dominant transmission with very variable penetrance, have been described, as well as cases associated with trisomy 9, balanced translocation between 3q13.2 and 12p11.2, Treacher-Collins syndrome and BAMS (Bosma Arhinia Microphthalmia Syndrome).


Different clinical presentations are possible:

-         partial arhinia

-         complete arhinia: the nasal area is flat and resistant to palpation

-         rudimentary nose: presence of unperforated soft tissue or with blind holes


Possibly associated anomalies: 


-         absence of olfactory bulbs and bands, 

-         arched or cleft palate,

-         hypoplasia of the auditory canals, 

-         midface hypoplasia (extreme form of Treacher-Collins syndrome in this case ?)

-         iris coloboma, hypertelorism

-         unilateral anophthalmia


Often associated with defects of the midline (e.g. holoprosencephaly).

Tracheostomy or creation of a nasopharyngeal passage in the neonatal period, and complex reconstructive surgery around 5 years of age or in late adolescence.


Anesthetic implications: 

respiratory distress at birth just like in choanal atresia: a pharyngeal cannula is often necessary. A temporary tracheotomy is often necessary (with or without gastrostomy) to ensure ventilation and proper nutrition during the first months of life. The  ventilation by mask and intubation can be difficult. MRI to exclude the presence of cerebral malformations.


References : 


Updated: September 2020