What is Pierre Robin Syndrome?

Author: Carmel Huels  |  Last update: Saturday, November 20, 2021

Pierre Robin sequence is also known as Pierre Robin syndrome or Pierre Robin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence.

What causes Pierre Robin syndrome?

In about 20 to 40 percent of cases, the condition occurs alone. The exact causes of Pierre Robin syndrome are unknown. Changes ( mutations ) in the DNA near the SOX9 gene are the most common genetic cause of isolated cases of Pierre Robin sequence.

Is Pierre Robin syndrome a disability?

Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl.

Do you grow out of Pierre Robin syndrome?

Most children with Pierre Robin Sequence grow up normally, even if they start their lives with quite severe problems. All babies with Pierre Robin Sequence will have some difficulties, but these will vary from child to child. Some have no problems with breathing and only minor feeding difficulties.

Does Pierre Robin sequence go away?

The majority of babies with PRS outgrow the breathing problems within three to six months as their airway grows. Occasionally breathing problems persist, or the airway obstruction becomes severe and life threatening.

What Is Pierre Robin Syndrome? (8 of 9)

How many babies are born with Pierre Robin sequence?

One in 2,000 to 30,000 babies has Pierre Robin sequence, according to the Cleft Palate Foundation. Approximately half of babies with Pierre Robin sequence are also born with one or more other conditions, such as Stickler syndrome.

Can you see Pierre Robin on ultrasound?

Prenatal diagnosis of Pierre Robin sequence

Doctors may see a small chin on a profile view of the face during a routine ultrasound. If your doctor suspects this, he or she will pay particular attention to the growth of the chin throughout the remainder of the pregnancy.

How is Pierre Robin sequence detected?

Pierre Robin sequence can be diagnosed with a physical exam at birth. If your child has Pierre Robin sequence, you can expect treatment to come in stages. Since the condition affects a variety of functions, including hearing, breathing and feeding, several specialists will be involved in your child's care.

What triad of characteristics are found in the infant with Pierre Robin sequence?

PRS is characterized by a classic triad of micrognathia, glossoptosis, and airway obstruction. Microretrognathia is immediately identified at birth and is a defining feature of the diagnosis (Fig. 1).

What is strawberry chin?

Micrognathia, strawberry chin, hypognathia hypognathism. Girl with Wolf–Hirschhorn syndrome. Specialty. Medical genetics. Micrognathism is a condition where the jaw is undersized.

Who discovered Pierre Robin sequence?

Lannelongue and Menard first described Pierre Robin syndrome in 1891 in a report on 2 patients with micrognathia, cleft palate, and retroglossoptosis.

What heart problems are associated with cleft palate?

Cardiac anomalies are one of the most common congenital disorders associated in cleft lip and palate patientsIt includes Cyanotic and acyanotic cardiac diseases likel fallot's tetralogy, transposition of greater vessels, atresia of tricuspid, total anomalous pulmonary venous return (TAPVR), truncus arteriosus, ...

Can micrognathia correct itself?

Micrognathia is fairly common in infants, and can often corrects itself as your child grows. In some children, micrognathia can cause abnormal tooth alignment because there is not enough room in your child's mouth for the teeth to grow.

Can folic acid prevent cleft lip?

The researchers found that folic acid supplementation of 400 micrograms or more per day reduced the risk of isolated cleft lip with or without cleft palate by one-third, but had no apparent effect on the risk of cleft palate alone.

Can DiGeorge syndrome be cured?

Although there is no cure for DiGeorge syndrome (22q11. 2 deletion syndrome), treatments can usually correct critical problems, such as a heart defect or cleft palate. Other health issues and developmental, mental health or behavioral problems can be addressed or monitored as needed.

Why is cleft lip so common in India?

Substandard nutrition and a lack of prenatal care are known to be the likely reasons for these congenital disorders. "Significant efforts must be made to relieve the prevalent unmet need and strengthen health care services to meet the demand of new cases so that the surgical backlog does not grow," Stewart added.

How is a sequence different from a syndrome?

In medicine, a sequence is a series of ordered consequences due to a single cause. It differs from a syndrome in that seriality is more predictable: if A causes B, and B causes C, and C causes D, then D would not be seen if C is not seen.

How is PRS diagnosed?

There's no specific diagnostic test for PRS. Consulting with a genetic specialist can rule out other problems linked to this syndrome. A diagnosis is made by precise physical examination of the infant, generally right after birth. A CT scan and sleep study may be required.

Is PRS rare?

PRS affects males and females in equal numbers, with an estimated prevalence of about 1 in 8,500-14,000 individuals.

Can you develop a cleft palate?

Cleft lip and cleft palate result when facial structures that are developing in an unborn baby don't close completely. Cleft lip and cleft palate are among the most common birth defects. They most commonly occur as isolated birth defects but are also associated with many inherited genetic conditions or syndromes.

What is Robin sequence?

Robin sequence, also known as Pierre Robin sequence, is a combination of facial differences that are present when a baby is born and usually includes: a small, underdeveloped lower jaw (micrognathia) a tongue that is positioned further back in the mouth than normal (glossoptosis)

Why doesnt my baby have a chin?

Micrognathia, or mandibular hypoplasia, is a condition in which a child has a very small lower jaw. A child with micrognathia has a lower jaw that's much shorter or smaller than the rest of their face. Children may be born with this problem, or it can develop later in life.

What micrognathia means?

Micrognathia is a term for a lower jaw that is smaller than normal.

What is jaw distraction surgery?

Jaw distraction involves the surgical insertion of distraction (lengthening) devices into the jaw. These devices lengthen the jaw bone, which allows the airway to open up and the child to breathe clearly.

When do babies lose recessed chin?

At around 3-4 months of age the infant's neck elongates and the pharynx deepens as the jaw moves forward with facial growth.

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