Parents, have you heard aboutpierre robin syndrome? This is a rare birth defect where the baby has an underdeveloped jaw. Some signs that may appear are a cleft palate and a tongue that is positioned further back towards the throat.
To treat this condition requires special treatment from a doctor. Regular consultations regarding the symptoms felt by your child can help your health care provider recommend the best method to treat it.
Definition of Pierre Robin SyndromePierre Robin syndromeor syndromepierre robinis a set of abnormalities affecting the head and face, characterized by a small lower jaw (micrognathia), a tongue that is positioned further back than usual (glossoptosis), and blockage (obstruction) of the airway.
Most children with this syndrome are also born with a hole in the roof of their mouth (cleft palate). This feature is generally not considered necessary to diagnose the condition, although there is some disagreement among doctors.
Some people havepierre robin syndromeas part of a syndrome that affects other organs and tissues in the body, such as Stickler syndrome or campomelic dysplasia. When this syndrome occurs by itself, it is described asnonsyndromicor isolated. Approximately 20 to 40 percent of casespierre robin syndromeoccurs without any other syndrome.
This condition is described as a “sequence” orsequencebecause one of its characteristics is underdevelopment of the lower jaw (mandible), triggering a series of events before birth that cause other signs and symptoms.
In particular, having an abnormally small jaw affects the placement of the tongue, and the abnormal position of the tongue can block the airway. In addition, micrognathia and glossoptosis affect the formation of the palate during prenatal development, often resulting in a cleft palate.
The combination of these physical abnormalities in a child can cause breathing difficulties and problems with feeding in early life. As a result, some babies affected by this syndrome have an inability to grow and gain weight at the expected rate ( failure to thrive ).
Pierre Robin Syndrome SymptomsThe symptoms that appear in babies with this rare syndrome vary from case to case. Some of the most common signs include:
Underdeveloped jaw and small chin. The tongue is positioned more posteriorly due to the small jaw. Snoring and experiencing airway obstruction due to the tongue falling towards the throat. High arched palate (roof of the mouth). A hole in the roof of the mouth (cleft palate). Teeth visible at birth. Dysphagia (difficulty swallowing). Temporary hearing loss can be a sign of a syndromepierre robin. This is due to a buildup of fluid behind the ear (middle ear effusion) – a common symptom of a cleft palate. Causes of Pierre Robin SyndromeUntil now, the exact cause of the syndrome is not known.pierre robin. The most widely accepted view is that there are many factors that contribute to a series of physical changes within the oral cavity.
These changes are thought to occur in a series of steps rather than as isolated events. Specifically, it is believed that the failure of the lower jaw to develop fully early in pregnancy causes the tongue to project backward and high in the oral cavity, which, in turn, prevents closure of the palate.
Pierre Robin SyndromeIt can occur by itself or in isolation and as a feature in several anomalous disorders or syndromes. When it occurs by itself, the DNA near a gene called SOX9 is the most commonly affected region. The SOX9 gene enables the production of the SOX9 protein, which plays a critical role in bone development.
In affected individuals, there are often mutations in regions of DNA that positively modulate SOX9 activity (enhancers). When these areas are damaged, SOX9 gene activity is reduced, leading to less normal production of SOX9 protein. This is believed to play a role in the characteristic craniofacial abnormalities associated with the syndrome.pierre robin.
Frequency of OccurrencePierre Robin Syndromeis a rare disorder. Its frequency is only about 1 in every 8,500 to 14,000 people. This condition can affect both sexes equally.
Risk FactorsCurrently, most of the casespierre robin syndromeisolated are believed to arise sporadically, or through new genetic changes (new), rather than being passed down from one generation to the next. In rarer familial cases of the syndromepierre robinisolated, studies favor an autosomal dominant mode of inheritance.
This syndrome is inherited following the same genetic pattern as the associated conditions, meaning that this can vary depending on the syndrome.
Dominant genetic disorders occur when only one copy of an abnormal gene is needed to cause a particular disease. The abnormal gene can be inherited from one parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.
DiagnosisSyndromepierre robincan be detected while the fetus is still in the womb. Trained medical personnel can visualize the characteristic features of this syndrome based on imaging fromultrasound.
If not previously diagnosed, craniofacial abnormalities are usually detected at birth on physical examination. Infants with severe airway obstruction may have respiratory distress at birth, and may require medical intervention.
There is no single standard test that is routinely used to diagnosepierre robin syndromeisolated, although molecular genetic testing can be used to identify DNA changes involving the SOX9 gene.
If your child is suspected of having this syndrome, consultation with a geneticist is highly recommended. The health professional can perform laboratory tests to confirm the suspected condition.
HandlingIf your child is diagnosed with this rare disorder, treatment can be gradual. Because the condition affects a variety of functions, including hearing, breathing, and feeding, several specialists will be involved in managing your child’s condition.
BreatheThe first priority is to keep the child’s upper airway open to allow for proper breathing. Positioning the child on his or her stomach can help prevent the tongue from blocking the airway.
If this does not resolve the problem, other treatments aimed at keeping the upper airway open may be recommended. These include a nasopharyngeal airway or nasal trumpet (a small tube inserted through the nose into the upper airway).
In cases of severe obstruction, your doctor may recommend surgery to enlarge the lower jaw (to allow the tongue to fit into the mouth) or a tracheotomy to create an opening in the windpipe.
FeedingJaw size, tongue position, and cleft palate can make it difficult for a child to eat. Babies with few symptomspierre robin syndromecan learn to breastfeed using specially adapted teats and bottles.
However, for babies with more severe conditions, the risk of inhaling fluid into the lungs is high. Special tube feeding may be recommended as a temporary solution to allow for proper weight gain.
While feeding difficulties lessen in the first two years, children who need long-term assistance may need a gastric tube inserted into the abdominal wall.
Cleft Palate and Hearing ProblemsThe time to repair a cleft palate varies depending on the growth and development of the individual child. It is usually treated within 1 to 2 years.
Cleft palates are repaired through a two- to three-hour surgical procedure that requires a one- to two-night hospital stay. During the procedure, a tube may be inserted into the ear to reduce fluid buildup.
Some children may also need speech therapy after cleft palate repair.
Dental ProblemsThe lower jaw is smaller in children born with this syndrome, causing crowded teeth. Therefore, the pediatric dentist and craniofacial surgeon must work together to monitor the development of the child’s teeth.
Possible ComplicationsThe risk of choking may decrease as your child gets older and the lower jaw grows to a more typical size. If your baby’s airway remains blocked, several complications can arise, including:
Difficulty breathing Problems with eating Frequent choking Low blood oxygen (hypoxemia) Pulmonary hypertension (a type of high blood pressure) Brain damage (due to difficulty breathing) Congestive heart failure Death PreventionTo date, it is not known how to prevent children from being exposed.pierre robin syndrome. Moreover, the cause is not yet known for certain.
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Although this rare disorder can be fatal, children withpierre robin syndromewhich are detected quickly will usually be handled well. Hopefully, Parents’ children will always be healthy.
Pierre Robin Syndrome
https://my.clevelandclinic.org/health/diseases/21863-pierre-robin-syndrome#prevention
Isolated Pierre Robin sequence
https://medlineplus.gov/genetics/condition/isolated-pierre-robin-sequence/#frequency
Pierre Robin Sequence
https://rarediseases.org/rare-diseases/pierre-robin-sequence/
Pierre Robin Sequence
https://www.hopkinsmedicine.org/health/conditions-and-diseases/pierre-robin-sequence#
Republished with permission from theAsianParent Indonesia