arhinia
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Definition: Congenital arhinia is the complete absence of the nose.
Synopsis
complete absence of the nose
complete airway obstruction
Associations
hypertelorism (15372519)
microphthalmia (15372519)
high-arched palate (15372519)
hypoplasia of the auditory canal and mastoid and facial bones (15372519)
absence of olfactory bulbs and tracts (15372519)
unilateral absence of orbit (1841889)
alobar holoprosencephaly
Etiology
isolated arhinia
associated arhinia
- syndromal arhinia
- Bosma arhinia-choanal atresia-microphthalmia syndrome (MIM.603457) (16353241)
- Treacher-Collins syndrome (8741923)
Cytogenetics
t(3;12)(q13.2;p11.2) (17304554, 15372519)
- deletion spanning from 3q11.2 to 3q13.31 (17304554)
Case records
complete arhinia in alobar holoprosencephaly (Case 11373)
See also
- facial malformations
- nasal malformations
- facial midline malformations