Yes, it is possible for a person to be born without a nose, an extremely rare congenital condition that presents a profound medical and developmental challenge. This anomaly is a structural failure occurring very early in prenatal development, making it one of the most uncommon birth defects documented in medical history. The rarity of the condition means that fewer than 100 cases have been reported in medical literature worldwide, highlighting the severe medical complexity that physicians and families must navigate from the moment of birth.
Defining Congenital Arhinia
The medical term for the complete absence of the nose at birth is congenital arhinia, sometimes referred to as nasal agenesis. This condition involves not just the lack of the external nasal pyramid but also the complete absence of the internal nasal passages, cavities, and the olfactory apparatus responsible for the sense of smell. Complete arhinia is distinct from partial arhinia, which involves only a segment of the nose being underdeveloped or missing.
Congenital arhinia is classified as a severe midline facial defect because it affects the central structures of the face. Due to its embryonic origins, the condition is frequently associated with other developmental anomalies. These can include eye defects, such as microphthalmia (abnormally small eyeballs) or colobomas (gaps or holes in the eye structures). The extreme scarcity of cases means that long-term management and reconstructive strategies are often customized.
Genetic Origins and Developmental Failure
Congenital arhinia results from a failure in the normal process of embryonic development that forms the mid-face. Nasal development begins early in the first trimester, specifically between the third and fifth weeks of gestation. During this time, structures called the nasal placodes must form and fuse with surrounding tissues to create the nose and nasal cavities.
The defect stems from the anomalous development or failure of these nasal placodes or the surrounding neural crest cells to migrate and fuse correctly. This disruption prevents the formation of the external nasal structure, the nasal septum, and the internal air passages. A genetic basis has been identified in a significant number of cases.
Research has linked mutations in the SMCHD1 gene to both isolated arhinia and cases that occur as part of a syndrome. The SMCHD1 gene is an epigenetic regulator whose mutation disrupts the signaling pathways necessary for proper facial development, resulting in the absence of the nasal structure.
Immediate Respiratory and Feeding Management
The absence of a nose in a newborn is a life-threatening emergency because human infants are obligate nasal breathers for the first few months of life. This means a baby instinctively breathes through their nose while their mouth is occupied by feeding or simply at rest. Without nasal passages, the infant cannot establish a stable and adequate airway, leading to immediate respiratory distress at birth.
The first action required by the medical team is to secure the airway, often necessitating endotracheal intubation in the delivery room. This involves placing a tube through the mouth and into the trachea to bypass the missing nasal passages. Since intubation is a temporary measure, a more stable, long-term airway solution is required within the first weeks of life.
A tracheostomy is typically performed, surgically creating an opening in the neck and inserting a tube directly into the trachea. This procedure ensures a secure and permanent airway that allows the infant to breathe safely while bypassing the absent nasal structures.
Because the airway must be secured through the mouth or neck, the coordination between breathing and sucking for feeding is severely compromised. Infants with arhinia cannot feed orally initially. Therefore, feeding is managed by non-oral methods, most commonly using an orogastric or nasogastric tube placed into the stomach. This multidisciplinary approach is essential for stabilizing the infant’s condition and ensuring survival.
Surgical Reconstruction Approaches
Reconstruction of the nose is a complex, multi-stage process that typically spans many years, often beginning in early childhood. The goal of this long-term treatment is to create both an aesthetically acceptable external nose and, in some cases, a functional nasal airway. Surgeons must address the significant deficiency in both soft tissue and the underlying skeletal structure of the midface.
The reconstructive process often involves a series of procedures. It may start with midface advancement using techniques like Le Fort osteotomy to create a more projected facial skeleton. Tissue expansion is then used to generate enough skin to cover the new nasal structure, commonly by placing an expander under the forehead skin and gradually filling it with saline. The forehead is a preferred site because its skin closely matches the texture and color of the nose.
To build the structural support, surgeons use costochondral grafts—pieces of cartilage harvested from the patient’s own ribs. This cartilage is sculpted to mimic the shape and contours of a natural nose. The expanded forehead flap is rotated down over this new cartilage framework to cover it.
The entire process involves numerous revisions as the child grows. While the external appearance can be significantly improved, creating a fully functional nasal airway and restoring the sense of smell remains a challenging aspect of the reconstruction.