Last Updated on February 20, 2023 by Mike Robinson
Pierre Robin Syndrome
Pierre Robin Syndrome (SPR), also known as the Pierre Robin sequence, is a genetic disorder classified into syndromes or craniofacial disorders (Arancibia, 2006).
Clinically, Pierre Robin syndrome is characterized by three fundamental clinical findings: micrognathia, glossoptosis, upper airway obstruction, and the variable presence of a cleft palate (Sridhar Reddy, 2016).
Regarding the etiological origin of this pathology, the Pierre-Roben syndrome is due to specific mutations in the SOX9 gene, most of which are diagnosed (Genetics Home Reference, 2016).
In general, this syndrome produces significant medical complications, including respiratory failure, digestive abnormalities, or the development of other craniofacial malformations (Association of Abnormalities and Dentofacial Malformations, 2016).
On the other hand, the diagnosis of Pierre-Robin syndrome is usually only confirmed at the moment of birth. In addition to the clinical findings, it is essential to perform various radiological tests to identify bone changes (Pierre Robin Australia, 2016). (Pierre Robin Australia, 2016).
At the moment, there is no cure for Pierre Robin syndrome. However, surgery can correct most musculoskeletal problems. Also, changes in the respiratory and digestive systems are important to avoid life-threatening medical problems (Rethe, Rayyan, Shoenaers, Dormaar, Breuls, Verdonck, Devriednt, Vander Poorten, and Hens, 2015).
Characteristics of the Pierre Robin Syndrome
Pierre Robin syndrome is a birth defect seen as soon as a baby is born. A craniofacial malformation causes all of its symptoms, which is also present (Genetics Home Reference, 2016).
There are also different names for Pierre Robin syndrome in the medical literature, such as Pierre Robin’s disease, Pierre Robin’s malformation, or Pierre Robin’s sequence (The National Craniofacial Association, 2016).
Menerad and Lannelongue were the first to describe this syndrome in 1891. The clinical reports talked about two patients whose clinical course was marked by underdevelopment of the mandibular bone structure, a cleft palate, and lingual displacement or retraction (Arancibia, 2006).
However, Pierre Robin did not describe the clinical spectrum of this disease until 1923. He did this by studying the case of a child with a mandibular malformation, a tongue that was too big, and serious breathing problems (Children’s Craniofacial Association, 2016).
Even though craniofacial radiological findings primarily identify this pathology, it is also characterized by mobility and medical problems caused mainly by heart failure and trouble eating. In particular, the Pierre Robin syndrome has a high death rate because of blocked airways, neurological problems, or changes in the heart (Sridhar Reddy, 2016).
How Many Cases of Pierre Robin Syndrome Are There?
The prevalence of Pierre Robin syndrome is estimated at approximately one case per 8,500 children born alive, of which more than 80% of the cases diagnosed are associated with other medical complications and specific syndromes (Arancibia, 2006).
The United States, on the other hand, has one case of Pierre Robin syndrome for every 3,120 births each year (Lee, Thottam, Ford, and Jabbour, 2015).
Currently, it is unknown if the Pierre Robin syndrome is more or less common based on gender, location, country of origin, or particular ethnic or racial groups.
Also, as we have said before, the Pierre Robin syndrome is a craniofacial disease with a high chance of causing death. (Lee, Thottam, Ford, and Jabbour, 2015) say that about 16.6% of affectionate patients who die in the US do so because of medical problems.
Based on how frequently they happen, the most common secondary medical conditions are problems with the heart (39%), changes in the central nervous system (33%), and problems with other organs (24%). (Lee, Thottam, Ford, & Jabbour, 2015)
Signs and Symptoms
The sequence of Pierre Robin syndrome is distinguished from other types of craniofacial pathologies by the presence of three fundamental clinical features: micrognathia, glossoptosis, and cleft palate (Children’s Craniofacial Association, 2016; Genetics Home Reference, 2016; Rehté et al., 2015):
Micrognathia
The term “micrognathia” indicates abnormal changes in the development of the jaw. Specifically, the jaw’s final shape is smaller than expected for the person’s age. As a result, the incomplete development of this craniofacial structure will lead to a wide range of malformations to the mouth and face.
Micrognathia is a medical sign in about 91% of Pierre Robin syndrome patients.
Glossoptosis
Glossoptosis is when the tongue moves backward in the mouth in a way that is not normal. Anomalies in the position and shape of the tongue can make it hard to eat and drink, leading to serious health problems.
In some cases, a person may also have a tongue that is too big. This is called macroglossia, which can make it difficult to breathe, chew, speak, and do various other activities with the mouth.
Glossoptosis is one of the most common signs of Pierre Robin syndrome. It is in about 70–85% of diagnosed cases. While macroglossia is less common, it can be in about 10–15 percent of people with the condition.
Cleft Palate
This term refers to a malformation in the palatal or oral roof areas, that is, the presence of fissures or holes associated with incomplete mandibular development. Like the other clinical findings, the cleft palate will significantly impact the diet.
In addition to these signs and symptoms, other types of changes may occur. (Arancibia, 2006; Rehté et al., 2015) Some of these are:
- Nasal malformations
- Eye alterations
- Musculoskeletal malformations are mainly related to the development of oligodactyly (reduction of the number of fingers, less than 5 in hands or feet).
- Clinodactyly (transversal deviation of the position of the fingers)
- Polydactyly (increase in the number of fingers), hyperlaxity in the joints (an abnormally exaggerated increase in joint mobility)
- Dysplasia in the phalanges (phalanges with deficient or incomplete bone development) or syndactyly (fusion of several fingers).
It is also possible to identify malformations in the structure of the extremities or the spine.
Common Medical Complications
In addition to the medical features detailed above, there may be others related to several systems (Arancibia, 2006; Children’s Craniofacial Association, 2016; Genetics Home Reference, 2016; Rehté et al., 2015):
Cardiac alterations
Changes to the heart are one of the medical problems that significantly affect a person’s health and pose the biggest threat to their survival. However, signs and symptoms caused by the cardiovascular system are treatable with drugs or surgery.
Some of the most common heart problems are cardiac stenosis, a persistent foramen ovale, a change in the arterial septum, and high blood pressure.
Neurological alterations
The genetic origin of Pierre Robin syndrome may also involve the development of various neurological disorders, mainly related to central nervous system (CNS) abnormalities.
Thus, some neurological disorders associated with Pierre Robin syndrome may include:
- hydrocephalus
- Chiari malformation
- Epileptic episodes
- A delay in acquiring psychomotor skills.
Respiratory disorders
Respiratory problems are one of the most relevant symptoms since they can cause the patient’s death. Additionally, brain damage can occur due to the scarcity of oxygen in the brain.
Thus, surgical corrections are required to free the airways in many cases. This consists mainly of the correction of mandibular dysplasia or the tongue’s position.
Eating Problems
Mandibular malformations are the leading cause of feeding problems, just as they are of breathing problems. So, it is essential to learn about congenital disabilities that make it hard to eat as soon as possible. Early detection reduces the risk of diseases caused by poor nutrition.
Causes of Pierre-Robin Syndrome
The Pierre Robin syndrome has an etiological genetic origin and is associated with changes in the SOX9 gene. This anomaly is present in most isolated cases of Pierre-Robin syndrome. However, some of its clinical characteristics may be associated with another genetic mutation (Genetics Home Reference, 2016).
In particular, the SOX9 gene’s main job is to provide the proportional biochemical instructions needed to make a protein. This protein helps different tissues and organs develop and form during fetal development (Genetics Home Reference, 2016).
New research also shows that the SOX9 protein can control the activity of other types of genes. Especially those involved in the development of the skeleton and, by extension, the mandibular structure (Genetics Home Reference, 2016).
Because of this, genetic changes stop some structures from growing correctly, leading to the three main clinical signs: micrognathia, glossoptosis, and cleft palate.
Diagnosis
Even though they are rare, an ultrasound can often find craniofacial structural malformations during pregnancy. However, it is more likely that Pierre Robin syndrome will be noticed after birth or during childhood. Radiological tests and a physical exam can confirm the diagnosis. The signs and structures of many people with the disease are apparent.
However, in other cases, it is necessary first to perform a respiratory study and then a radiological study to determine the presence of this syndrome.
Another critical part of figuring out what is wrong is looking at other parts of the body. These include the heart and nervous system, where other life-threatening problems can appear. Lastly, the diagnostic intervention may include a genetic study of the person’s family to look for possible genetic links.
Treatment Options
The typical treatment of Pierre Robin syndrome consists primarily of surgical procedures to correct craniofacial malformations (Arancibia, 2006):
- · Tracheotomy
- · Closing palatal slits
- · Lengthening of the jaw
- · Bone distraction
- · Lingual fixation
In addition, other pharmacological approaches are effective in treating cardiac pathologies, epileptic episodes, and other neurological events.
Also Read: Wolman’s Disease: Symptoms, Causes, and Treatment
In addition, affected people usually present difficulties related to language production, so in many cases, the early logotype approach is fundamental.
The essential objective is to establish an efficient communication method through the residual capacities and, in turn, stimulate the acquisition of new skills.
