Kids Health Info

Pierre Robin Sequence (PRS)

  • How you say it: Pee-air Row-barn Sequence

    Pierre Robin Sequence (PRS) is a condition where babies are born with a small lower jaw and a cleft palate (an opening in the roof of the mouth). For some babies, this can affect their breathing either from birth or shortly after birth. Most babies also have feeding difficulties and problems gaining weight.

    In Victoria, an average of 10 babies per year are diagnosed with PRS, or one in 5000 live births (Victorian Perinatal Data Collection Unit).

    Signs and symptoms

    Breathing difficulties in conjunction with a small jaw and cleft palate may show in one or more of the following ways:

    • Your baby may be appear to be working hard to take breaths and look worn out and tired with breathing.
    • Their chest appears to be sucking in with each breath.
    • A grey or blue colour appears around their lips, even if your baby is still breathing.
    • Their breathing is noisy, especially when breathing in;
    • or there may be no sound as your baby attempts to breathe in.

    IMPORTANT: If you see any of these signs, seek immediate medical treatment at the nearest hospital emergency department.

    Sometimes the breathing difficulties may not be obvious. Feeding problems and/or poor weight gain in the first weeks or months after birth may be thought to be due to the cleft palate. In most cases it is due to airway obstruction and occurs because your baby finds it hard to feed and breathe at the same time. Also, extra energy is needed when breathing is obstructed.

    You might notice two or more of the following signs in your baby:

    • taking a long time to feed, tiring easily and not taking full feed volumes;
    • difficulty attaching to the breast;
    • coughing, choking or arching the back when feeding;
    • poor weight gain;
    • milk refluxing (coming back up) from the nose and mouth.

    If a baby does not receive appropriate medical treatment, they may have ongoing problems with nutrition and weight gain, or they may stop breathing.

    NB: Because PRS is quite rare, it is sometimes not diagnosed at birth especially if there do not appear to be immediate breathing problems. Therefore, any baby with a small jaw and cleft palate with feeding issues or difficulty gaining weight should be suspected to have PRS.

    Causes

    The cause of PRS is still not fully understood. It is thought to start as a small jaw, which causes the tongue to stop the roof of the mouth (palate) closing during normal development. Why the jaw is small in the first place is not known, but it may be genetic. Some babies do have a family history of PRS or similar problems, although most don't. Babies with PRS are screened for other possible problems such as eye, kidney, bone and occasionally heart conditions. However, for most babies, no other problems are found. 

    Difficulty breathing can occur after birth because the small and recessed jaw makes the tongue sit further towards the back of the throat, narrowing or blocking the airway. The problems with breathing may be better or worse at different times, and may be worse when your baby is in certain positions (especially lying flat on their back), or when feeding or crying.

    Glossoptosis

    Treatment

    The teatment will depend on how bad the breathing and feeding problems are. Your baby may be required to stay in hospital for observation and treatment, including:

    • nutrition and feeding support;
    • close observation of weight gain;
    • monitoring of vital signs and ongoing breathing assessments.

    Sometimes, assistance to keep the airway clear is required.  This would involve the insertion of a tube known as a nasopharyngeal (pron. nay-so-far-an-jeel) tube (see Figure 1).

    Nasopharyngeal tube

    Figure 1.

    The majority of babies will outgrow the breathing problems within three to six months as their airway grows.

    Occasionally this does not occur and breathing problems persist, or the airway obstruction becomes severe and life threatening. If this occurs surgical treatment will be considered.

    Surgical treatment involves  jaw distraction (lengthening) surgery, or in rare circumstances tracheostomy.

    Follow-up

    Appointments with the neonatologists and respiratory team following discharge will ensure respiratory and feeding problems are resolving. These appointments will be quite frequent af first, until your baby is over three months of age and no breathing issues have arisen.

    Consultation with a facial surgeon and consideration for  jaw distraction (lengthening) may be required at a later date if breathing problems do not resolve over time.

    Consultation with a plastic surgeon will be required for a cleft palate. Repair of the cleft palate will often be delayed until after 12 months of age in babies with PRS.

    Hearing appointments will be made for regular assessments, as hearing difficulties often occur due to fluid in the middle ear that does not drain out in the usual way. It is common for an ear, nose and throat surgeon to insert ventilation tubes in the ears (called 'grommets') at the time of palate closure. These tubes help fluid drain from the middle ear.

    All babies with PRS should have at least one appointment with a children's eye doctor for a review.

    If problems other than a small jaw and cleft palate are found, or if there is any family history of such problems, consultation with a genetics team will be arranged. Genetic testing may be helpful in these circumstances.

    Key points to remember

    • A baby with a cleft palate and small jaw should be evaluated for breathing and feeding complications in a children's hospital.
    • In most cases, failure to gain weight in conjunction with a cleft palate and small jaw is a sign of upper airway obstruction, not feeding problems. This needs specialist medical attention.
    • Breathing problems in PRS can go up and down and change in severity over time.  They may need to be re-evaluated by a pediatric specialist if feeding or breathing issues recur or become worse.

    For more information 


    Developed by The Royal Children's Hospital Neonatal Medicine, in consultation with Neonatology and Respiratory Medicine. Illustrations: Educational Resource Centre. First published: January 2012 

     

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Disclaimer 
This information is intended to support, not replace, discussion with your doctor or healthcare professionals. The authors of these consumer health information handouts have made a considerable effort to ensure the information is accurate, up to date and easy to understand. The Royal Children's Hospital, Melbourne accepts no responsibility for any inaccuracies, information perceived as misleading, or the success of any treatment regimen detailed in these handouts. Information contained in the handouts is updated regularly and therefore you should always check you are referring to the most recent version of the handout. The onus is on you, the user, to ensure that you have downloaded the most up-to-date version of a consumer health information handout.