arhinia

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

 craniofacial malformations

• facial malformations
  • nasal malformations
  • facial midline malformations