Choanal atresia is a congenital disorder

Congenital disorder

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...

 where the back of the nasal passage (choana

Choana

Choana is the posterior nasal aperture.The choanae are separated by the vomer.- Boundaries :It is the opening between the nasal cavity and the nasopharynx....

) is blocked, usually by abnormal bony

Bone

Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...

 or soft tissue formed during fetal development.

Presentation

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
  Infant
  A newborn or baby is the very young offspring of a human or other mammal. A newborn is an infant who is within hours, days, or up to a few weeks from birth. In medical contexts, newborn or neonate refers to an infant in the first 28 days after birth...
  
   will then be unable to breathe directly after birth
  Childbirth
  Childbirth is the culmination of a human pregnancy or gestation period with the birth of one or more newborn infants from a woman's uterus...
  
   as babies are obligate nasal breathers
  Obligate nasal breathing
  Obligate nasal breathing is a term used to describe either a physiological or psychological predisposition or obligation to breathe through the nose as opposed to the mouth. The term may be misleading, as it implies that the animal has no choice but to breathe through its nose; however, it is...
  
   (they must use their noses to breathe). In some cases, this may present as cyanosis
  Cyanosis
  Cyanosis is the appearance of a blue or purple coloration of the skin or mucous membranes due to the tissues near the skin surface being low on oxygen. The onset of cyanosis is 2.5 g/dL of deoxyhemoglobin. The bluish color is more readily apparent in those with high hemoglobin counts than it is...
  
   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.

Associated conditions

Sometimes babies born with choanal atresia also have other abnormalities:

• coloboma
  Coloboma
  A coloboma is a hole in one of the structures of the eye, such as the iris, retina, choroid or optic disc...
  
  
• heart defects
• mental retardation
  Mental retardation
  Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
  
  
• growth impairment
• others (see also CHARGE syndrome
  CHARGE syndrome
  CHARGE syndrome , is a syndrome caused by a genetic disorder. It was first described in 1979.In 1981, the term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children...
  
  )

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

Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by ossification, thereby changing the growth pattern of the skull...

 syndromes such as Crouzon syndrome

Crouzon syndrome

Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible...

, Pfeiffer syndrome

Pfeiffer syndrome

Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull , which prevents further growth of the skull and affects the shape of the head and face...

, and Antley-Bixler syndrome

Antley-Bixler syndrome

Antley-Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body....

.

Diagnosis

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

Catheter

In medicine, a catheter is a tube that can be inserted into a body cavity, duct, or vessel. Catheters thereby allow drainage, administration of fluids or gases, or access by surgical instruments. The process of inserting a catheter is catheterization...

. Also, if one notices a continuous stream of mucous draining from one or both nostrils, it could be a sign of an atresia. Diagnosis is confirmed by radiological

Radiology

Radiology is a medical specialty that employs the use of imaging to both diagnose and treat disease visualized within the human body. Radiologists use an array of imaging technologies to diagnose or treat diseases...

 imaging, usually CT scan.

Treatment

Temporary alleviation can be achieved by inserting an oral airway into the mouth. However, the only definitive treatment is surgery to correct the defect by perforating the atresia to create a nasopharyngeal airway. If the blockage is caused by bone, this is drilled through and stent inserted. The patient has to have this sucked out by an air vacuum machine . And in later life as a teenager or in early twenties the hole will have to be re-drilled larger.

A stent may be inserted to keep the newly formed airway patent or repeated dilatation may be performed.