Pierre Robin Syndrome

What is Pierre Robin Syndrome ?

Pierre Robin Syndrome or PRS is a congenital disorder which is believed to occur due to a sequence of developmental malformations. PRS patients often have disfigured faces as a result of a small lower jaw. Aside from having abnormal jaws, patients also have retracted tongues and palate problems. These problems make it hard for patients to breathe properly. Feeding is also a challenge due to the risk of choking posed by the retracted tongue.

The parents of a child afflicted with Pierre Robin Syndrome should bring their child for a visit to the doctor for check-up since early and prompt medical intervention could prevent potential complications from happening. It should be duly noted that early life mortality can occur due to these complications. But with the proper treatment and supportive care, patients could grow into healthy children. There are organizations and support groups that will help parents care for their PRS children.

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Symptoms of Pierre Robin Syndrome

Patients of PRS are born with the condition which is manifested in the following ways:

  • Facial deformities

Facial deformities are evident even before birth through fetal sonogram, though this is only possible if the facial features of the child are pronounced. Most of the time, the facial deformities of children with PRS are noted at birth. Affected babies are born with underdeveloped jaws, often referred to as micrognathia. The jaw of the patient is located far back in the throat while the chin is receding.

  • Tongue abnormalities

The patient’s tongue seems large but it is actually normal in size. This is because the affected individual has a smaller jaw thus making the tongue appear larger than it really is. Still, the tongue is located in the far rear region of the mouth. The retracted tongue, along with a small jaw, results in smaller airways. This is the reason why patients with PRS have breathing difficulties and are prone to choking.

  • Palate problems

PRS sufferers also have palate problems. The palate is composed of soft and hard parts. The hard palate of a PRS patient is U-shaped, while the soft palate has a fissure or opening. Indeed, a cleft palate is responsible for feeding difficulties among children with PRS.

Causes of Pierre Robin Syndrome

PRS or Pierre Robin Malformation occurs as a result of a series of developmental malformations. Recent developments in medical research revealed that the condition may arise due to anomalies in genes affecting number 2, 11 or 17 chromosomes. The condition has likewise been associated to underlying syndromes like Velocardiofacial Syndrome, Stickler Syndrome, Teacher Collins Syndromes and Fetal Alcohol Syndrome.

Experts believe that during the formative stages of fetal bones, fusion happens between the tip of the fetus’ jaw and the collar bones. This occurrence prevents the bones of the jaw from growing. As the fetus starts to make some head movements, the jaw comes out from the collar bones and develops slowly. When the child is born, his/her jaw is smaller than it normally should be. Yet, the jaw will continue to develop within the first year of the child’s life.

Pierre Robin Syndrome Statistics

Pierre Robin Malformation is a relatively rare disorder which affects 1 child in every 8,500 births. The incidence in both genders is equally distributed. The condition was named after Pierre Robin, a renowned French orthodontist. The severity of PRS differs in every child, with some exhibiting breathing difficulties less obvious than others. However, most children have both breathing and feeding problems.

Complications may arise if the child does not get the appropriate treatment. The condition may eventually lead to speech and sleeping problems, as well as gastroesophageal reflux or GERD. Meanwhile, the obstruction of the airways may result in cerebral impairment and hypoxia – a condition in which the body is deprived of enough supply of oxygen. Weight gain problems and nutritional deficiency are other issues that may occur if PRS is left untreated.

Diagnosis and Prognosis of Pierre Robin Syndrome

PRS is immediately diagnosed after birth because of the presence of underdeveloped jaws. Even so, the doctor may run other tests to discount other conditions with symptoms resembling that of PRS’. The diagnosis also involves checking out other problems affecting various organs of the body including the heart, bone, eyes and ears. The doctor will also check if the child’s neuromuscular system and central nervous system are affected.

PRS prognosis is often positive with appropriate treatment and early supportive care. Children with PRS can grow into healthy individuals and live normal lives. The first few years of the child’s life might be challenging due to minor problems posed by feeding and breathing difficulties. Also, sufferers tend to be more susceptible to ear infections and have smaller statues.

Pierre Robin Syndrome Treatment

There are several ways to treat or manage Pierre Robin Syndrome and these are:

  • Surgery

Surgical intervention is an option to repair the cleft palate or clear airway blockage to address breathing and feeding problems.

  • Therapy

Patients may require speech therapy to improve speech which is hindered by the cleft palate.

  • Proper feeding and sleeping techniques

It is important for parents to learn proper feeding techniques for a child with PRS. Proper sleeping techniques also help prevent choking caused by the retracted tongue.

Pierre Robin Syndrome pictures

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