Introduction:
Embryological development (early developmental stage of the human embryo) of the nose occurs due to the process of fusion of various minute structures during the development of the fetus. Any defects in the development, like an incomplete fusion of the structures or absence of the structures needed for the normal development of the nose, resulting in structural (shape, size, and appearance of the nose) and functional (nasal obstruction) deformities of the nose. Genetic changes are also responsible for inborn nasal defects in many children.
What Is the Prevalence of Congenital Disorders of the Nose?
Congenital (inborn) defects of the nose are uncommon and affect around one in every twenty-thousand live births.
How Are Congenital Disorders of the Nose Classified?
Congenital disorders of the nose are classified into four types:
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Type 1 - Hypoplastic (Lack of Cells or Tissue Needed to Form an Organ) Nose: Improper or underdeveloped skin, tissues, muscles, cartilage, and nose bones.
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Type 2 - Hyperplastic (Excessive Formation of Cells and Tissues Leading To Enlarged Organs) Or Duplicate Nose: Excess formation of the tissue of the nose results in enlarged nose formation or duplication (extra) of the nose.
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Type 3 - Cleft (Split) Nose: Incomplete or failure of fusion of the nasal tissue resulting in a split nose and upper lip.
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Type 4 - Tumors of the Nose: Inborn cancerous or non-cancerous tumors of the nose due to genetic defects like vascular tumors (tumor mass involving the arteries and blood vessels).
What Are the Different Types of Congenital Disorders of the Nose?
Different types of congenital deformities of the nose are:
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Total Arhinia: Absence of the nasal cavities and the external nose completely due to chromosomal defects of chromosomes 9, 10, and 31.
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Heminasal Aplasia: It is a very uncommon deformity that affects one-half of the nose (unilateral absence of the nose) due to defects during development.
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Binder Syndrome (Naso-Maxillary Dysplasia): A rare deformity affecting the face resulting in undeveloped mid-face (upper jaw, upper lip, and nose) structures.
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Fraser Syndrome: It is a rare syndrome affecting the cartilage and the bone of the nose (nasal bridge) and underdeveloped nostrils.
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Enlarged Nasal Turbinates: Overgrowth of the nasal tissues results in nasal obstruction and loss of smell.
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Crouzon Syndrome: It presents with underdeveloped midface structures (nose, upper jaw, and upper lips), backwardly placed midface, and narrowing of the nasal cavities that result in abnormal facial appearance and nasal obstruction.
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Neonatal Septal Deviation: Inborn defect causing deviated nasal septum (cartilage separating the nasal cavities into two halves).
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Supernumerary Nose: Congenital deformities of the nose resulting in the presence of an accessory (extra) or duplicate nose.
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Nasal Clefts: An inborn defect characterized by incomplete formation or fusion of the nose resulting in a split nose and upper lip.
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Nasal Encephaloceles: These are the external nasal growth present since birth. It is small initially and gradually enlarges in size due to coughing. It is located in the center of the forehead.
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Nasal Gliomas: These are congenital growth on the nose that extends from the center of the forehead to the nasal tip. It can also involve the brain as it enlarges.
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Nasal Hemangiomas: It is a congenital (inborn) vascular (tumor mass involving the arteries and blood vessels) tumor that results in frequent nosebleeds and nasal obstruction.
What Are the Signs and Symptoms Associated With Congenital Disorders of the Nose?
Signs and symptoms associated with congenital nasal deformities are:
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Difficulty in breathing due to nasal obstruction.
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Loss of smell due to the presence of enlarged nasal growths.
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Facial appearance changes due to an underdeveloped midface, external or internal overgrowth of the nasal tissue mass, and complete absence of the nose.
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Abnormal functioning of the nose due to underlying developmental defects.
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Snoring due to constriction of the nasal cavities.
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Bleeding from the nose (epistaxis).
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Nasal discharge.
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Feeding difficulties due to cleft (split) lip and nose (incomplete oral seal).
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The nasal tone in the voice.
How to Diagnose Congenital Disorders of the Nose?
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History and Clinical Examination: A detailed history should be recorded for the presenting symptoms like breathing difficulties, loss of smell, and any family history with similar defects. Clinical examination is done to rule out any signs of respiratory insufficiency in newborns. Complete screening of newborn babies is done to check for any nasal obstruction and disorders due to developmental or genetic defects (associated with any craniofacial syndromes).
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Computed Tomography (CT) Scans: These scans are done to check for the presence of any structural deformities of the nose, nasal cavity stenosis (narrowing), and cancerous or non-cancerous tumors concerning the nose.
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Magnetic Resonance Imaging (MRI): It is done to rule out the size and extent of the nasal tumor. In some cases, tumors may extend and involve the brain and paranasal sinuses. It gives an accurate diagnosis and helps to plan the treatment accordingly.
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Nasal Tissue Biopsy: A sample of soft tissue mass is collected to diagnose the type of cancerous or noncancerous tumor. It is done only when there is no involvement of the brain by a tumor.
How to Manage Congenital Disorders of the Nose?
Treatment is performed based on the symptoms:
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Management of Underlying Symptoms: Emergency management of the child born with respiratory distress should be done immediately. Complete screening of the child is done to check for the presence of any developmental defect and is later managed accordingly.
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Surgical Removal: Soft tissue growth in the nose is surgically removed by a blade or by using an endoscopic (an apparatus with an attached camera used to see internal body structures) approach to treat the nasal obstruction and allow the free flow of air through the nose.
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Counseling: Counseling of the parents having a child born with a cleft nose and lip defects should be done. Treatment plans are started step by step based on the age criteria or protocols recommended for managing cleft lip and nose patients, and patients are referred to smile training centers.
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Septoplasty: It is done to treat the deviated nasal septum (cartilaginous structure separating two nasal cavities).
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Rhinoplasty: It is done to treat the physical or cosmetic appearance of the nose by reshaping the nose by the ENT (ear, nose, and throat) specialist and plastic (cosmetic) surgeon.
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Speech and Language Therapy: A speech and language pathologist provides speech and language development training to the child after the complete treatment.
Conclusion:
Congenital (inborn) disorders of the nose are rare but can result in structural and functional deformities in newborns due to genetic or developmental defects. It affects the quality of life of both the parents and the child as deformities like a cleft nose can cause feeding problems, speech delay, and language development. Therefore, early diagnosis and management of the congenital deformities of the nose are crucial for preventing the underlying symptoms, avoiding any delay in speech and language development, and achieving a satisfactory treatment outcome.
