Congenital throat problems

This is an umbrella term used to describe a wide range of throat problems which develop as a single condition or as part of another condition. These throat problems mainly affect the larynx.

The term ‘congenital’means a condition which is present from birth. This means that the majority of these throat problems occur during birth in the first few years of life.

These are rare conditions which account for less than 5 out of every 10,000 births.

Causes of congenital throat problems

These throat problems usually occur as a result of a ‘fault’within a set of chromosomes, but they can occur for other reasons which include:

• Drug abuse during pregnancy
• Environmental factors
• Inherited (family history)

They can also occur if the mother acquired a disease or infection during her pregnancy which was transmitted to the developing baby via the placenta.

Types of congenital throat problems

These are grouped under the category ‘laryngeal abnormalities’and include:

• Subglottic stenosis
• Laryngomalacia
• Vocal cord paralysis (congenital)
• Laryngeal web
• Laryngotracheoesophageal cleft

The symptoms of these vary in severity: they range from relatively mild symptoms which only occur later on in life through to something which can be fatal at birth.

They include a high pitched sound which is heard when breathing in (known as stridor); shortness of breath; quick or rapid breathing; blue discolouration of the skin and abnormal crying sound.

Subglottic stenosis

Subglottic stenosis is a common form of congenital throat disorder. It is a narrowing of the airway within the subglottis – an area below the glottis at the bottom end of the larynx. This airway is located within the cricoid cartilage (ring shaped cartilage around the windpipe).

This narrowing occurs due to a deformity within the cricoid cartilage and results in a weak, hoarse voice and a high pitched sound, heard when the person breathes in.

Laryngomalacia

Laryngomalacia is a common condition in very young children: the soft, underdeveloped cartilage within the larynx collapses inwards when the child breathes in which then blocks their airway.

This also causes a high pitched noise –known as ‘stridor’which occurs when the child inhales.

Laryngomalacia also occurs in older adults, usually in those who have weak throat muscles due to a neuromuscular disorder. But it is far more common in young children.

Vocal cord paralysis

Vocal cord paralysis (congenital) often occurs in very young children as a form of ‘birth trauma’.

Birth trauma is the name give to a series of injuries which affect the baby during childbirth. These occur as a result of a lack of oxygen to an area of the body or the whole of the body; or as a physical injury to the baby, e.g. the skull, during the delivery.

Vocal cord paralysis can also be caused by spina bifida, cerebral palsy or hydrocephalus.

This causes problems with feeding; noisy or high pitched breathing; abnormal crying e.g. the baby’s cries are hoarse or croaky and an inability to cough.

Laryngeal web

A laryngeal web is the medical term for a condition where there is a deformity within the larynx. This results in a mesh of tissue across the vocal cords which prevent them from separating at birth.

This separation is vital for their normal functioning. The vocal cords are two flaps of tissue – similar to a pair of ‘blinds’, which open and close due to air pressure. This enables sounds to be produced. But if these cords do not separate during the baby’s development then a thin web of tissue is left lying across these cords which prevents them from working as normal.

This results in a high pitched ‘squeak’ as the child breathes in; weak or ineffectual crying and problems with breathing due to restricted airflow through the windpipe.

Laryngotracheoesophageal cleft

A laryngotracheoesophageal cleft is a very rare congenital disorder in which there is a gap or split – known as a ‘cleft’, within the top part of the windpipe (trachea) and the larynx.

This causes a gap between the windpipe and the oesophagus which allows food to pass into the airways rather than down the oesophagus and into the stomach as per normal.

This occurs in babies during their development in the womb and causes a range of symptoms such as problems with breathing, chronic coughing, high pitched noise when inhaling and cyanosis (blue skin). A failure to gain weight is another problem.

Treatment for congenital throat problems

To start with, further investigation is needed by an ear, nose and throat (ENT) specialist. He or she will perform a laryngoscopy (a fibre-optic scope to check the throat) or airway fluoroscopy (medical images of the airways) to determine the extent of the problem.

In some cases the problem will resolve itself but in others, surgical intervention is needed, for example a tracheostomy. A tracheostomy is a surgical procedure in which an incision is made in the front of the trachea (windpipe) to enable the person to breathe easily.

It also helps to drain away any excess fluids within the throat.