Reviewed By: Pramod Kerkar, MD, FFARCSI

What Is Pierre Robin Syndrome?

Pierre Robin Syndrome which is most commonly referred to as Pierre Robin Sequence is a chain of congenital developmental malformations in which one malformation is followed by the other in a sequence and hence the name Pierre Robin Sequence. This condition is characterized by an abnormally small jaw, a tongue which is displaced downwards, and a cleft palate.

The root cause of Pierre Robin Syndrome has not yet been identified but there are many theories published by various researchers regarding the cause of this condition.
The characteristic features of a cleft palate and an abnormally small jaw is good enough to give the child a diagnosis of Pierre Robin Syndrome, although prenatally an ultrasound may detect the presence of this condition.

The treatment for this condition is symptomatic and is focused on easing the problems with breathing that the child will have due to airway obstruction as a result of Pierre Robin Syndrome.

What Causes Pierre Robin Syndrome?

As stated, the root cause for the development of Pierre Robin Syndrome is not yet known, although various theories have been published in the literature as to the potential causes of this condition.

According to one of the theories, during the early stages of pregnancy when the formation of bones occur, the tip of the jaw gets caught between the meeting point of the collar bone the sternum and thus the growth of the jaw bone is hampered resulting in the underdevelopment of the jaw and the child having an abnormally small jaw.
Similarly in the case of the cleft palate one theory states that the failure of the jaw to completely develop in early pregnancy causes the tongue to be positioned quite high in the oral cavity which interferes with complete palate closure resulting in cleft palate.

As of recent, a genetic link has also been identified pertaining to the cause Pierre Robin Syndrome. A defect in chromosome 2 has been identified to be the cause of the facial malformations that are characteristic of a child with Pierre Robin Syndrome.

It is believed that the condition is inherited as an autosomal recessive trait meaning that a copy of the defective gene from both parents is required in the development of Pierre Robin Syndrome.

What Are The Symptoms Of Pierre Robin Syndrome?

The classic presenting feature of Pierre Robin Syndrome is the presence of an abnormally small jaw and other facial malformations like a cleft palate and downward displaced tongue. Upper airway obstruction due to the cleft palate also may cause breathing problem which is quite a serious symptom that a child has to deal with in cases of Pierre Robin Syndrome.

A child with Pierre Robin Syndrome will also have problems with feeding and also will not be able to reach the developmental milestones on time. As a result of breathing problems, children with this condition also have to deal with a condition called obstructive sleep apnea in which there is a temporary pause in breathing while sleeping causing sleep problems in children with Pierre Robin Syndrome.

In some cases, children with Pierre Robin Syndrome also tend to have pulmonary hypertension as well as pulmonary stenosis. Otitis media is also a condition which a child has to deal with frequently as a result of Pierre Robin Syndrome.

How Is Pierre Robin Syndrome Treated?

The main focus of treatment in children with Pierre Robin Syndrome is to treat breathing difficulties that may arise as a result of obstructed airways. Hence, a child with Pierre Robin Syndrome will be observed for any problems with breathing. In cases of breathing problems, a tracheostomy may have to be inserted to assist in breathing till the time the airway obstruction is cleared and the child is able to breathe normally.

For cleft palate, a surgery will be required which is normally done after the child is a couple of years old to correct the deformity. If the cleft palate results in speech problems for the child then the physician may recommend speech therapy to correct the speech.

A child with Pierre Robin Syndrome may have frequent ear infections and hence treatment for this condition is also mandatory to prevent any complications like hearing impairment to manifest as a result of Pierre Robin Syndrome.

Surgery is not required to correct the small jaw since with age the size of the jaw becomes closer to normal. Above all, a genetic counseling is required for family members of people who have children with Pierre Robin Syndrome.

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: March 19, 2018

This article does not provide medical advice. See disclaimer

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