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It can be unilateral or bilateral.
- Sometimes, a unilateral choanal atresia is not detected until much later in life because the baby manages to get along with only one nostril available for breathing.
- Bilateral choanal atresia is a very serious life-threatening condition because the baby will then be unable to breathe directly after birth as babies are obligate nasal breathers (they mainly use their noses to breathe). In some cases, this may present as cyanosis while the baby is feeding, because the oral air passages are blocked by the tongue, further restricting the airway. The cyanosis may improve when the baby cries, as the oral airway is used at this time. These babies may require airway resuscitation soon after birth.
The general presentation is of a skin-covered nodule, papule, or nodule of the skin surface, usually immediately anterior to the auricle. However, it may be anywhere within the periauricular tissues. Bilateral presentation can be seen.
Sometimes babies born with choanal atresia also have other abnormalities:
- coloboma
- heart defects
- mental retardation
- growth impairment
- others (see also CHARGE syndrome)
Also any condition that causes significant depression of the nasal bridge or midface retraction can be associated with choanal atresia. Examples include the craniosynostosis syndromes such as Crouzon syndrome, Pfeiffer syndrome, Treacher Collins and Antley-Bixler syndrome.
In teratology, proboscis is a blind-ended, tubelike structure, commonly located in the midface.
Proboscis formation are classified in four general types: holoprosencephalic proboscis, lateral nasal proboscis, supernumerary proboscis, and disruptive proboscis.
- Holoprosencephalic proboscis is found in holoprosencephaly. In cyclopia or ethmocephaly, proboscis is an abnormally formed nose. In cyclopia, a single median eye is associated with arrhinia (absence of the nose) and usually with proboscis formation above the eye. In ethmocephaly, two separate hypoteloric eyes are associated with arrhinia and supraocular proboscis formation. In cebocephaly, no proboscis formation occurs, but a single-nostril nose is present.
- Lateral nasal proboscis (proboscis lateralis) is a tubular proboscis-like structure and represents incomplete formation of one side of the nose; it is found instead of a nostril. The olfactory bulb is usually rudimentary on the involved side. The lacrimal duct (tear duct), nasal bone, nasal cavity, vomer, maxillary sinus, cribriform plate, and ethmoid cells are often missing on the involved side. Ocular hypertelorism may be present. The proboscis lateralis is a rare nasal anomaly.
- Supernumerary proboscis (Accessory proboscis) is found when both nostrils are formed and a proboscis occurs additionally. Accessory proboscis arise from a supernumerary olfactory placode.
- Disruptive proboscis occur if an early embryonic hamartoneoplastic lesion arises in the primitive prosencephalon.
An accessory auricle is considered a developmental anomaly resulting from the persistence of a structure which variably recapitulates the normal external ear.
Anosmia is the inability to perceive odor or a lack of functioning olfaction—the loss of the sense of smell. Anosmia may be temporary, but some forms such as from an accident, can be permanent. Anosmia is due to a number of factors, including an inflammation of the nasal mucosa, blockage of nasal passages or a destruction of one temporal lobe. Inflammation is due to chronic mucosa changes in the paranasal sinus lining and the middle and superior turbinates.
When anosmia is caused by inflammatory changes in the nasal passageways, it is treated simply by reducing inflammation. It can be caused by chronic meningitis and neurosyphilis that would increase intracranial pressure over a long period of time, and in some cases by ciliopathy including ciliopathy due to primary ciliary dyskinesia (Kartagener syndrome, Afzelius' syndrome or Siewert's syndrome).
Many patients may experience unilateral anosmia, often as a result of minor head trauma. This type of anosmia is normally only detected if both of the nostrils are tested separately. Using this method of testing each nostril separately will often show a reduced or even completely absent sense of smell in either one nostril or both, something which is often not revealed if both nostrils are simultaneously tested.
A related term, hyposmia, refers to a decreased ability to smell, while hyperosmia refers to an increased ability to smell. Some people may be anosmic for one particular odor. This is known as "specific anosmia". The absence of the sense of smell from birth is called congenital anosmia.
Specific types of additional body parts include:
- Accessory breast – one or more additional breasts
- Accessory spleen – one or more additional spleens
- Cervical rib – an additional rib
- Diphallia - Having two penes/penises.
- Hermaphroditism – having both sexes' sex organs
- Hyperdontia – additional teeth
- Pelvic digit – a bony growth in the soft tissue of the pelvic region
- Polycephaly – an extra head
- Polydactyly – additional fingers or toes
- Polymelia — an extra arm or leg.
- Polyorchidism – having three or more testicles
- Supernumerary bones – these additional bones are fairly common, particularly in the feet, and are frequently mistaken for fractures on x-rays.
- Supernumerary kidney – a third kidney
- Supernumerary nipples – an additional nipple
- Supernumerary phantom limbs – where the brain acts as though a limb were there, but it is not.
- Syndactyly – webbing between the fingers or toes
- Uterus didelphys – two vaginal canals and/or uteri
Anosmia can have a number of harmful effects. Patients with sudden onset anosmia may find food less appetizing, though congenital anosmics rarely complain about this, and none report a loss in weight. Loss of smell can also be dangerous because it hinders the detection of gas leaks, fire, and spoiled food. The common view of anosmia as trivial can make it more difficult for a patient to receive the same types of medical aid as someone who has lost other senses, such as hearing or sight.
Losing an established and sentimental smell memory (e.g. the smell of grass, of the grandparents' attic, of a particular book, of loved ones, or of oneself) has been known to cause feelings of depression.
Loss of olfaction may lead to the loss of libido, though this usually does not apply to congenital anosmics.
Often people who have congenital anosmia report that they pretended to be able to smell as children because they thought that smelling was something that older/mature people could do, or did not understand the concept of smelling but did not want to appear different from others. When children get older, they often realize and report to their parents that they do not actually possess a sense of smell, often to the surprise of their parents.
A study done on patients suffering from anosmia found that when testing both nostrils, there was no anosmia revealed; however, when testing each nostril individually, tests showed that the sense of smell was usually affected in only one of the nostrils as opposed to both. This demonstrated that unilateral anosmia is not uncommon in anosmia patients.
Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs.
Many additional body parts form by the same process as conjoined twins: the zygote begins to split but fails to completely separate. This condition may also be a symptom of repeated occurrences of continuous inbreeding in a genetic line.
A supernumerary nipple (also known as a third nipple, triple nipple, accessory nipple, polythelia or the related condition: polymastia) is an additional nipple occurring in mammals, including humans. Often mistaken for moles, supernumerary nipples are diagnosed in humans at a rate of approximately 1 in 18 people.
The nipples appear along the two vertical "milk lines," which start in the armpit on each side, run down through the typical nipples and end at the groin. They are classified into eight levels of completeness from a simple patch of hair to a milk-bearing breast in miniature.
"Polythelia" refers to the presence of an additional nipple alone while "polymastia" denotes the much rarer presence of additional mammary glands.
Although usually presenting on the milk line, pseudomamma can appear as far away as the foot.
A possible relationship with mitral valve prolapse has been proposed.
Symptoms of polyps include nasal congestion, sinusitis, loss of smell, thick nasal discharge, facial pressure, nasal speech, and mouth breathing. Recurrent sinusitis can result from polyps. Long-term, nasal polyps can cause destruction of the nasal bones and widening of the nose.
As polyps grow larger, they eventually prolapse into the nasal cavity resulting in symptoms. The most prominent symptoms of nasal polyps result blockage of the nasal passage.
People with nasal polyps due to aspirin intolerance often have symptoms known as Samter's triad, which consists of asthma worse with aspirin, a skin rash caused by aspirin, and chronic nasal polyps.
In some cases, the accessory breast may not be visible at the surface. In these cases, it may be possible to distinguish their appearance from normal breast tissue with MRI. In other cases, accessory breasts have been known to lactate, as illustrated in a woodcut showing a child nursing at ectopic breast tissue on the lateral thigh.
There is some evidence that the condition may be more common in Native American populations.
Franceschetti–Klein syndrome (also known as "Mandibulofacial dysostosis") is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palate, malformations of both the external and internal ear, buccal-auricular fistula, abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.
It is sometimes equated with Treacher Collins syndrome.
In human anatomy, an azygos lobe is a congenital variation of the upper lobe of the right lung.It is seen in 1% of the population. Embryologically, it arises from an anomalous lateral course of the azygos vein in a pleural septum within the apical segment of the right upper lobe or in other words an azygos lobe is formed when the right posterior cardinal vein, one of the precursors of the azygos vein, fails to migrate over the apex of the lung and penetrates it instead, carrying along two pleural layers that invaginates into the upper portion of the right upper lobe . As it has no bronchi, veins and arteries of its own or corresponding alteration in the segmental architecture of the lung, so it is not a true (misnomer), or even accessory, pulmonary lobe, but rather an anatomically separated part of the upper lobe. It is usually an incidental finding on chest x-ray or computed tomography and is as such not associated with any morbidity but can cause technical problems in thoracoscopic procedures .
Accessory breasts, also known as polymastia, supernumerary breasts, or mammae erraticae, is the condition of having an additional breast. Extra breasts may appear with or without nipples or areolae. It is a condition and a form of atavism which is most prevalent in male humans, and often goes untreated as it is mostly harmless. In recent years, many affected women have had a plastic surgery operation to remove the additional breasts, for purely aesthetic reasons.
A related condition, in which extra nipples form, is called "supernumerary nipple" or "polythelia".
Cebocephaly [Greek "kebos", monkey + "kephale", head] is a developmental anomaly of the head characterized by a monkey-like head, with a defective small, flattened nose with a single nostril or absent nose and closely set eyes. Cebocephaly is part of a group of defects called holoprosencephaly. The incidence of cebocephaly is 1 in 16,000 births.
Ectopic salivary gland tissue which is located in sites other than the normal location is variously described as aberrant, accessory, ectopic, heterotopic or salivary gland choristoma.
Nasal congestion is the blockage of the nasal passages usually due to membranes lining the nose becoming swollen from inflamed blood vessels.
Nasal decongestants target the discomfort directly. These come as nasal sprays, inhalers, and as oral pills.
Nasal congestion has many causes and can range from a mild annoyance to a life-threatening condition. Most people prefer to breathe through the nose (historically referred to as "obligate nasal breathers"). Nasal congestion in an infant in the first few months of life can interfere with breastfeeding and cause life-threatening respiratory distress; in older children and adolescents it is often just an annoyance but can cause other difficulties.
Nasal congestion can interfere with the hearing and speech. Significant congestion may interfere with sleep, cause snoring, and can be associated with sleep apnea. In children, nasal congestion from enlarged adenoids has caused chronic sleep apnea with insufficient oxygen levels and hypoxia, as well as right-sided heart failure. The problem usually resolves after surgery to remove the adenoids and tonsils, however the problem often relapses later in life due to craniofacial alterations from chronic nasal congestion.
Nasal congestion can also cause mild facial and head pain, and a degree of discomfort, often from allergies or the common cold.
Nasal polyps (NP) are noncancerous growths within the nose or sinuses. Symptoms include trouble breathing through the nose, loss of smell, decreased taste, post nasal drip, and a runny nose. The growths are sac-like, movable, and nontender, though face pain may occasionally occur. They typically occur in both nostrils in those who are affected. Complications may include sinusitis and broadening of the nose.
The exact cause is unclear. They may be related to chronic inflammation of the lining of the sinuses. They occur more commonly among people who have allergies, cystic fibrosis, aspirin sensitivity, or certain infections. The polyp itself represents an overgrowth of the mucous membranes. Diagnosis may occur by looking up the nose. A CT scan may be used to determine the number of polyps and help plan surgery.
Treatment is typically with steroids, often in the form of a nasal spray. If this is not effective surgery may be considered. The condition often recurs following surgery, thus continued use of a steroid nasal sprays is often recommended. Antihistamines may help with symptoms but do not change the underlying disease. Antibiotics are not required for treatment unless an infection occurs.
About 4% of people currently have nasal polyps while up to 40% of people develop them at some point in their life. They most often occur after the age of 20 and are more frequent in males than females. Nasal polyps have been described since at least the time of the Ancient Egyptians.
Leontiasis ossea, also known as leontiasis, lion face or Lion Face Syndrome, is a rare medical condition, characterized by an overgrowth of the facial and cranial bones. It is not a disease in itself, but a symptom of other diseases, including Paget's disease, fibrous dysplasia, hyperparathyroidism and renal osteodystrophy.
The common form is that in which one or other maxilla is affected, its size progressively increasing, and thus encroaching on the cavities of the orbit, the mouth, the nose and its accessory sinuses. Exophthalmos gradually develops, going on later to a complete loss of sight due to compression of the optic nerve by the overgrowth of bone. There may also be interference with the nasal respiration and with the taking of food. In the somewhat less common form of this rare disease the overgrowth of bone affects all the cranial bones as well as those of the face, the senses being lost one by one and death finally resulting from cerebral pressure. There is no treatment other than exposing the overgrown bone, and chipping away pieces, or excising entirely where possible.
Nasal obstruction characterized by insufficient airflow through the nose can be a subjective sensation or the result of objective pathology. It is difficult to quantify by subjective complaints or clinical examinations alone, hence both clinicians and researchers depend both on concurrent subjective assessment and on objective measurement of the nasal airway. Often a doctor's assessment of a perfectly patent nasal airway might differ with a patient's complaint of an obstructed nose.
An "accessory salivary gland" is ectopic salivary gland tissue with a salivary gland duct system. The most common location of accessory salivary gland tissue is an extra major salivary gland in front of the parotid gland. It is typically about 3 cm or less in size, and drains into the parotid duct via a single tributary. Accessory parotid tissue is found in 21-56% of adults. Any disease process which affects the salivary glands, including cancer, may also occur within an accessory salivary gland tissue.
Diagnosing a patient can be difficult as they are often frustrated from ineffective therapy and being told they have mental illnesses. Some patients actually have trouble deciding whether they have a taste or smell problem. In this case asking questions about food choices will help determine whether a patient has a smell or taste disorder. It is important to identify whether the distortion applies to an inhaled odorant or if an odor exists without the stimulus. The distortion of an odorant is presented in two types: the stimuli are different from what one remembers and in the second, everything has a similar smell. A clinical history can also help determine what kind of disorder one has because events such as respiratory infection and head trauma are usually indications of parosmia where as phantosmias usually have no history of such events and occur spontaneously. Unfortunately there are no accurate diagnostic tests or methods for dysosmia. Evaluation must be done through questionnaires and medical history.
Olfactory dysfunction can be quantitative and/or qualitative. Quantitative smell disorders refer to disorders in which there is complete or partial loss of olfaction. Anosmia, the complete loss of olfaction, and hyposmia, the partial loss of olfaction are the two disorders classified as quantitative because they can be measured. Qualitative smell disorders can’t be measured and refer to disorders in which there is alternation or distortion in the perception of smell. Qualitative disorders include parosmia (also called troposmia) and phantosmia. The term dysosmia refers to a qualitative olfaction disorder and include both parosmia and phantosmia. Olfactory dysfunction including anosmia, hyposmia, and dysosmia can be either bilateral or unilateral on either nostril. Anosmia only on the left nostril would be termed unilateral left anosmia while bilateral anosmia would be termed total anosmia.
Phantosmia (phantom smell), also called an olfactory hallucination, is smelling an odor that is not actually there. It can occur in one nostril or both. Unpleasant phantosmia, cacosmia, is more common and is often described as smelling something that is burned, foul, spoiled, or rotten. Experiencing occasional phantom smells is normal and usually goes away on its own in time. When hallucinations of this type do not seem to go away or when they keep coming back, it can be very upsetting and can disrupt an individual's quality of life.
Olfactory hallucinations can be caused by common medical conditions such as nasal infections, nasal polyps, or dental problems. It can result from neurological conditions such as migraines, head injuries, strokes, Parkinson's disease, seizures, or brain tumors. It can also be a symptom of certain mental disorders such as depression, bipolar disorder, intoxication or withdrawal from drugs and alcohol, or psychotic disorders. Environmental exposures are sometimes the cause as well, such as smoking, exposure to certain types of chemicals (e.g., insecticides or solvents), or radiation treatment for head or neck cancer.
A physician can determine if the problem is with the sense of smell (olfactory system) or taste (gustatory system), or if it is caused by a neurological or psychiatric disorder. Phantosmia usually goes away on its own, though this can sometimes be gradual and occur over several years. When caused by an illness (e.g., sinusitis), it should go away when the illness resolves. If the problem persists or causes significant discomfort, a doctor might recommend nasal saline drops, antidepressant or anticonvulsant medications, anesthesia to parts of the nose, or in very rare circumstances, surgical procedures to remove the olfactory nerves or bulbs.