From the Guidelines
Being born without a nasal septum is referred to as congenital nasal septal aplasia or congenital absence of the nasal septum. This condition is characterized by the complete absence of the cartilaginous and/or bony structure that normally divides the nasal cavity into two separate chambers 1. Patients with this condition typically present with a single, undivided nasal cavity instead of the normal two-sided structure.
The absence of the nasal septum can cause breathing difficulties, altered facial appearance, and may be associated with other craniofacial abnormalities. Key characteristics of this condition include:
- Complete absence of the nasal septum
- Single, undivided nasal cavity
- Potential breathing difficulties
- Altered facial appearance
- Possible association with other craniofacial abnormalities
Treatment typically involves careful evaluation by otolaryngologists and possibly surgical intervention to create a functional partition if symptoms warrant it 1. It is essential to distinguish this condition from septal deviation or perforation, which involve a malformed or damaged septum rather than complete absence.
In the context of prenatal screening, an absent or hypoplastic nasal bone, as discussed in the study 1, can be an indicator of potential genetic syndromes, including trisomy 21. However, the term "congenital nasal septal aplasia" specifically refers to the postnatal condition of being born without a nasal septum, which may or may not be related to the prenatal findings of an absent or hypoplastic nasal bone.
From the Research
Definition and Terminology
- The term for being born without a nasal septum (nasal septal bone) is not explicitly defined in the provided studies as a specific condition.
- However, the studies discuss a related condition called arhinia, which is characterized by the congenital absence of nasal structures, including the nasal septum.
Arhinia
- Arhinia is a rare condition, with fewer than 100 cases published in the literature to date 2.
- It is often associated with other craniofacial or somatic anomalies 3, 4, 5.
- The condition can cause respiratory distress during the neonatal period, and management is not clearly defined due to its rarity 2.
Related Conditions
- Congenital absence of the nose, also known as congenital nasal atresia, is a rare anomaly that has been described in the literature 6.
- This condition can involve the complete absence of the anterior soft tissues of the nose, as well as atretic plates and a hypoplastic nasal cavity 6.
Diagnosis and Treatment
- Early detection of arhinia and related conditions can be helpful for parents and physicians, and may involve the use of imaging studies such as CT and MRI scans 4, 6.
- Treatment of these conditions often requires surgical intervention, including the creation of a nasal airway and reconstruction of the nose 3, 5, 6.