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UC Davis Children’s Hospital

UC Davis Children’s Hospital

Craniofacial anomalies – Pierre Robin sequence

Pierre Robin sequence is a combination of problems that begins during pregnancy with micrognathia (small jaw). If the jaw is small, there is often not enough room for the tongue to lie flat in the mouth, so it rests at the back of the mouth (this is called glossoptosis). When the tongue rests at the back of the mouth, it may prevent the palate (roof of the mouth) from closing, resulting in a cleft palate (cleft lip is not usually associated with Pierre Robin). If a child has a cleft palate this is usually repaired between the ages of 12 and 18 months.

Because the tongue folds up and rests at the back of the mouth, the airway may be partially blocked. Babies may have some trouble breathing. If this is severe, the baby may need to have a tracheotomy. A tracheotomy is a surgical procedure that makes a small opening in the trachea or windpipe, which allows the baby to get all the air it needs. The baby would need this until the jaw has had a chance to grow enough for the baby to breathe through the mouth. The tracheotomy can then be closed. Poor feeding as a baby can also be a problem. This is due to the baby having trouble coordinating breathing and sucking. If a baby is not able to get enough nutrition by mouth he/she may need a gastrostomy tube (G tube). This is a tube that is surgically inserted into the stomach through the abdomen. Nutrition that the baby is not able to take by mouth can be given by the G tube. The G tube will need to be in place until the baby is able to get enough nutrition via its mouth.

Isolated Pierre Robin sequence is often not a lifelong condition. The jaw of an affected child is often able to grow and catch up to normal size. In fact, many children have a completely normal profile by the time they start school. Isolated Pierre Robin sequence does not affect any other part of the body. A baby with isolated Pierre Robin sequence is at no greater risk than any other child for other problems, including learning difficulties.

If a baby just has Pierre Robin sequence, there is only a small chance that the parents, other family members, or indeed the baby later in life will have another baby with Pierre Robin sequence. The chances of it happening again if you are the affected baby or the parents of that baby, is thought to be between 1 and 5%. Conversely, there is a 95-99% chance that it will not happen again. The risk to other family members is smaller still.

It is, however, important for your baby to be evaluated by a doctor familiar with this sequence because Pierre Robin sequence can occur as part of a syndrome. There are several different syndromes that can have Pierre Robin sequence. The table below shows some of the syndromes more commonly found in people with Pierre Robin sequence. The information for the table is adapted from a study of 100 children referred with Pierre Robin sequence to one craniofacial center (Shprintzen RJ. The Implications of the diagnosis of Robin Sequence. Cleft palate-Craniofacial Journal 1992; 29(3) 205-209.).

SYNDROME
PERCENTAGE OF PEOPLE WITH PRS THAT HAVE THE SYNDROME
Stickler Syndrome
34
Velocardiofacial Syndrome
11
Fetal alcohol
10
Treacher Collins Syndrome
5
Beckwith-Wiedermann Syndrom
1
N.B 17% of Pierre Robin sequence is isolated non-syndromic

If you or your baby have Pierre Robin sequence as part of a syndrome, there is an increased risk to have other features associated with that syndrome. If small jaw is part of the syndrome, then, while the jaw will grow, it is not likely to be the same size as unaffected members of the family. If Pierre Robin sequence is part of a syndrome, the chance of having another child with the same problems differs depending on how the particular syndrome is inherited.

Support groups

References

Gorlin R.J., Cohen M.M., Hennekam R.C.: Syndromes of the Head and Neck. Oxford University Press, 1990.
Jones K.L., Smith’s Recognizable Patterns of Human Malformation. 5th Edition. W.B. Soliders Company A Division of Harcourt Brace and Company, 1997.
Shprintzen RJ. The Implications of the diagnosis of Robin Sequence. Cleft palate-Craniofacial Journal 1992; 29(3) 205-209.

Additional resources