Choanal atresia is a

congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

where the back of the nasal passage (

choana The choanae (singular choana), posterior nasal apertures or internal nostrils are two openings found at the back of the nasal passage between the nasal cavity and the throat in tetrapods, including humans and other mammals (as well as crocodilia ...

) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed hole development of the nasal fossae during

prenatal development Prenatal development () includes the development of the embryo and of the fetus during a viviparous animal's gestation. Prenatal development starts with fertilization, in the germinal stage of embryonic development, and continues in fetal devel ...

. It causes persistent

rhinorrhea Rhinorrhea, rhinorrhoea, or informally runny nose is the free discharge of a thin mucus fluid from the nose; it is a common condition. It is a common symptom of allergies ( hay fever) or certain viral infections, such as the common cold or COVID- ...

, and with bilateral choanal atresia and obstructed airway that can cause

cyanosis Cyanosis is the change of body tissue color to a bluish-purple hue as a result of having decreased amounts of oxygen bound to the hemoglobin in the red blood cells of the capillary bed. Body tissues that show cyanosis are usually in locations ...

and hypoxia. Choanal atresia is diagnosed based on the inability to place a nasal

catheter In medicine, a catheter (/ˈkæθətər/) is a thin tube made from medical grade materials serving a broad range of functions. Catheters are medical devices that can be inserted in the body to treat diseases or perform a surgical procedure. Cath ...

, and

radiology Radiology ( ) is the medical discipline that uses medical imaging to diagnose diseases and guide their treatment, within the bodies of humans and other animals. It began with radiography (which is why its name has a root referring to radiat ...

results (particularly CT scans). Treatment involves maintaining an open airway, and may involve

surgery Surgery ''cheirourgikē'' (composed of χείρ, "hand", and ἔργον, "work"), via la, chirurgiae, meaning "hand work". is a medical specialty that uses operative manual and instrumental techniques on a person to investigate or treat a pat ...

to reopen the airway, potentially with a

stent In medicine, a stent is a metal or plastic tube inserted into the lumen of an anatomic vessel or duct to keep the passageway open, and stenting is the placement of a stent. A wide variety of stents are used for different purposes, from expandab ...

. Choanal atresia is a fairly rare condition, affecting between 1 in 7,000 to 1 in 5,000 live births.

Presentation

Choanal atresia can be unilateral or bilateral. * A unilateral choanal atresia may not be detected until much later in life because the baby manages to get along with only one nostril available for breathing. Symptoms are minor, including persistent

(mainly normal

mucus Mucus ( ) is a slippery aqueous secretion produced by, and covering, mucous membranes. It is typically produced from cells found in mucous glands, although it may also originate from mixed glands, which contain both serous and mucous cells. It is ...

) and chronic

sinusitis Sinusitis, also known as rhinosinusitis, is inflammation of the nasal mucosa, mucous membranes that line the paranasal sinuses, sinuses resulting in symptoms that may include thick Mucus#Respiratory system, nasal mucus, a nasal congestion, plugg ...

. * Bilateral choanal atresia is a life-threatening condition because the

baby An infant or baby is the very young offspring of human beings. ''Infant'' (from the Latin word ''infans'', meaning 'unable to speak' or 'speechless') is a formal or specialised synonym for the common term ''baby''. The terms may also be used to ...

will be unable to breathe directly after

birth Birth is the act or process of bearing or bringing forth offspring, also referred to in technical contexts as parturition. In mammals, the process is initiated by hormones which cause the muscular walls of the uterus to contract, expelling the f ...

as babies are obligate nasal breathers (they mainly use their noses to breathe). In some cases, this may present as

while the baby is feeding, because the oral air passages are blocked by the tongue, further restricting the airway. Cyanosis may improve when the baby cries, as the oral airway is used. These babies may require airway

resuscitation Resuscitation is the process of correcting physiological disorders (such as lack of breathing or heartbeat) in an acutely ill patient. It is an important part of intensive care medicine, anesthesiology, trauma surgery and emergency medicine. W ...

soon after birth.

Associated conditions

Choanal atresia is associated with a higher risk of other airway problems, including: *

tracheomalacia Tracheomalacia is a condition or incident where the cartilage that keeps the airway (trachea) open is soft such that the trachea partly collapses especially during increased airflow. This condition is most commonly seen in infants and young child ...

. *

laryngomalacia Laryngomalacia (literally, "soft larynx") is the most common cause of chronic stridor in infancy, in which the soft, immature cartilage of the upper larynx collapses inward during inhalation, causing airway obstruction. It can also be seen in o ...

. * subglottic stenosis. Sometimes, babies born with choanal atresia also have other abnormalities: *

coloboma A coloboma (from the Greek , meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is pres ...

. *

heart defects A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular ...

and

cardiovascular disease Cardiovascular disease (CVD) is a class of diseases that involve the heart or blood vessels. CVD includes coronary artery diseases (CAD) such as angina and myocardial infarction (commonly known as a heart attack). Other CVDs include stroke, h ...

. *

intellectual disability Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signifi ...

. *growth impairment. *genital hypoplasia. *

CHARGE syndrome CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart ...

. *others. Also any condition that causes significant depression of the nasal bridge or midface retraction can be associated with choanal atresia. Examples include the

craniosynostosis Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...

syndromes such as

Crouzon syndrome Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial ...

Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis) which affects the shape of the head and face. In addition, the syndrome includes abnormalities of the hands (such ...

Treacher Collins syndrome Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing prob ...

Apert syndrome Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the ...

, and Antley-Bixler syndrome.

Cause

Choanal atresia is caused by problems with the development of the

nasal cavity The nasal cavity is a large, air-filled space above and behind the nose in the middle of the face. The nasal septum divides the cavity into two cavities, also known as fossae. Each cavity is the continuation of one of the two nostrils. The nasal c ...

and the

palate The palate () is the roof of the mouth in humans and other mammals. It separates the oral cavity from the nasal cavity. A similar structure is found in crocodilians, but in most other tetrapods, the oral and nasal cavities are not truly sepa ...

. Development begins with

neural crest cells Neural crest cells are a temporary group of cells unique to vertebrates that arise from the embryonic ectoderm germ layer, and in turn give rise to a diverse cell lineage—including melanocytes, craniofacial cartilage and bone, smooth muscle, Per ...

. Frontonasal processes fold, forming nasal placodes (nasal pits). The nasobuccal membrane must rupture in places to form the

choanae The choanae (singular choana), posterior nasal apertures or internal nostrils are two openings found at the back of the nasal passage between the nasal cavity and the throat in tetrapods, including humans and other mammals (as well as crocodilia ...

. A number of theories exist as to how this developmental process causes choanal atresia.

Risk factors

Very few risk factors for choanal atresia have been identified. In general, choanal atresia is associated with a higher risk of other

birth defects A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

. Bilateral choanal atresia is more associated than unilateral choanal atresia. While causes are unknown, both genetic and environmental triggers are suspected. One study suggests that chemicals that act as

endocrine disrupters Endocrine disruptors, sometimes also referred to as hormonally active agents, endocrine disrupting chemicals, or endocrine disrupting compounds are chemicals that can interfere with endocrine (or hormonal) systems. These disruptions can cause ca ...

may put an unborn infant at risk. A 2012 epidemiological study looked at

atrazine Atrazine is a chlorinated herbicide of the triazine class. It is used to prevent pre-emergence broadleaf weeds in crops such as maize (corn), soybean and sugarcane and on turf, such as golf courses and residential lawns. Atrazine's primary manufa ...

, a commonly used herbicide in the U.S., and found that women who lived in counties in

Texas Texas (, ; Spanish language, Spanish: ''Texas'', ''Tejas'') is a state in the South Central United States, South Central region of the United States. At 268,596 square miles (695,662 km2), and with more than 29.1 million residents in 2 ...

with the highest levels of this chemical being used to treat agricultural crops were 80 times more likely to give birth to infants with choanal atresia or stenosis compared to women who lived in the counties with the lowest levels. Another epidemiological report in 2010 found even higher associations between increased incidents of choanal atresia and exposure to second-hand-smoke, coffee consumption, high maternal zinc and B-12 intake and exposure to anti-infective urinary tract medications. The anti-

thyroid The thyroid, or thyroid gland, is an endocrine gland in vertebrates. In humans it is in the neck and consists of two connected lobes. The lower two thirds of the lobes are connected by a thin band of tissue called the thyroid isthmus. The thy ...

medication

methimazole Thiamazole, also known as methimazole, is a medication used to treat hyperthyroidism. This includes Graves disease, toxic multinodular goiter, and thyrotoxic crisis. It is taken by mouth. Full effects may take a few weeks to occur. Common s ...

has been associated with the development of choanal atresia in rare cases if given during the first trimester of

pregnancy Pregnancy is the time during which one or more offspring develops ( gestates) inside a woman's uterus (womb). A multiple pregnancy involves more than one offspring, such as with twins. Pregnancy usually occurs by sexual intercourse, but ca ...

Mechanism

Choanal atresia causes closure of the posterior choanae in the

. Around 30% of these affect just the bone, while around 70% affect both bone and membranes. Bones affected can include the body of the

sphenoid bone The sphenoid bone is an unpaired bone of the neurocranium. It is situated in the middle of the skull towards the front, in front of the basilar part of occipital bone, basilar part of the occipital bone. The sphenoid bone is one of the seven bones ...

, the

vomer The vomer (; lat, vomer, lit=ploughshare) is one of the unpaired facial bones of the skull. It is located in the midsagittal line, and articulates with the sphenoid, the ethmoid, the left and right palatine bones, and the left and right maxill ...

, the medial pterygoid process of the sphenoid bone, and the

horizontal plate The horizontal plate of palatine bone is a quadrilateral part of the palatine bone, and has two surfaces and four borders. Surfaces The superior surface, concave from side to side, forms the back part of the floor of the nasal cavity. The inf ...

of the

palatine bone In anatomy, the palatine bones () are two irregular bones of the facial skeleton in many animal species, located above the uvula in the throat. Together with the maxillae, they comprise the hard palate. (''Palate'' is derived from the Latin ''pa ...

Diagnosis

Nasal catheter

Choanal atresia can be suspected if it is impossible to insert a nasal

.Choanal atresia – PubMed Health
/ref> The length of catheter that can be inserted indicates where choanal atresia has occurred: shorter distances indicate a problem with the

, while longer distances indicate a problem with the posterior choanae.

Mucus Mucus ( ) is a slippery aqueous secretion produced by, and covering, mucous membranes. It is typically produced from cells found in mucous glands, although it may also originate from mixed glands, which contain both serous and mucous cells. It is ...

can be cleared (using suction) to visualise the abnormality.

Radiology

Diagnosis is confirmed using CT scan. This is also useful for differential diagnosis.

Treatment

Airway management

As bilateral choanal atresia is an emergency, the airway is secured. A small tube may be placed to the

laryngopharynx The pharynx (plural: pharynges) is the part of the throat behind the mouth and nasal cavity, and above the oesophagus and trachea (the tubes going down to the stomach and the lungs). It is found in vertebrates and invertebrates, though its struc ...

Tracheal intubation Tracheal intubation, usually simply referred to as intubation, is the placement of a flexible plastic catheter, tube into the vertebrate trachea, trachea (windpipe) to maintain an open airway or to serve as a conduit through which to administer ce ...

can also be used. If surgery cannot be performed soon after birth, tracheostomy may have better outcomes.

Surgery

Surgery may be used to reopen the airway, particularly with bilateral choanal atresia. This may be approaches through the

or through the

(accessed through the

mouth In animal anatomy, the mouth, also known as the oral cavity, or in Latin cavum oris, is the opening through which many animals take in food and issue vocal sounds. It is also the cavity lying at the upper end of the alimentary canal, bounded on ...

). A

may be inserted to keep the newly formed airway patent. Repeated dilatation may be performed. CT guidance may be used.

Epidemiology

Choanal atresia is fairly rare. It may have a frequency between 1 in 7,000 births and 1 in 5,000 births.

History

Choanal atresia was first described by Roederer in 1755.

Society and culture

In the movie City of Angels, Dr. Maggie Rice (played by Meg Ryan) correctly diagnoses the cause of a newborn baby's failure to thrive as due to choanal atresia.

References

External links

{{DEFAULTSORT:Choanal Atresia Congenital disorders of respiratory system