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 through a tracheostomy. 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.).
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.
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 through a tracheostomy. 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 |
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.
I received the following email with a wealth of knowledge from first hand experience...... a mom! She has given me permission to share the pictures of her BEAUTIFUL daughter who has TCS. A hearty "thanks" to Judy for taking the time to share so that we all may learn even more! I am also posting a link to www.tcconnection.org in the helpful links for families and professionals section, too!
Hello:
I read your blog this morning on PRS and wanted to respond and agree with you that having PRS and also having PRS as part of Treacher Collins syndrome (TCS), does in fact indicate a small jaw and airway. However, the jaw often does not grow on its own and eventually catch up, as you stated, and for the majority (it not all) of the time, a jaw distraction is required once, and sometimes many times throughout childhood. I am a moderator on the Jaw Distraction webgroup (as well as TCS group) and we see parents of PRS kids all the time who undergo jaw distraction. My own TCS child who is now 14 yrs old has had 3 jaw distractions and is getting ready to undergo her 4th distraction because the jaw does not grow on its own or at the same rate for those with TCS.
I felt the information about the jaw growing on its own in PRS is not entirely correct and I wouldn't want parents of new PRS babies reading your blog to think they don't have this to worry about when they very well might.
You have a wonderful educational blog and I appreciate all the work and information you are offering. I find it fascinating that you have compiled such an extensive site! What motivated you to do this -- was it a personal experience or are you in a medical field? I think it's wonderful whatever the reason. :) Please feel free to write me if you have any questions about what I have written here.
I will leave you with pictures of my daughter, who in these pictures is 11 yrs old and has just finished her 3rd distraction. Incidentally, with each distraction for a TCS child, the child will look this way after a successful jaw distraction but then their upper jaw/face outgrows the lower jaw pretty quickly, resulting in other jaw distractions until they are grown. This is very common in those w/TCS. For those w/PRS, sometimes one jaw distraction is enough and it keeps up with the face thereafter. I'm sure there are those w/PRS who do not require jaw distraction but the reason for my email is that jaw distraction is a very common surgery in PRS and TCS patients, and I didn't see any mention of that in your article and I wanted to give you my input. Btw, I love the colors and design you used on this site. If I were a new mother of child with an issue and I ended up on your site, I would find it so very soothing!
Sincerely,
I read your blog this morning on PRS and wanted to respond and agree with you that having PRS and also having PRS as part of Treacher Collins syndrome (TCS), does in fact indicate a small jaw and airway. However, the jaw often does not grow on its own and eventually catch up, as you stated, and for the majority (it not all) of the time, a jaw distraction is required once, and sometimes many times throughout childhood. I am a moderator on the Jaw Distraction webgroup (as well as TCS group) and we see parents of PRS kids all the time who undergo jaw distraction. My own TCS child who is now 14 yrs old has had 3 jaw distractions and is getting ready to undergo her 4th distraction because the jaw does not grow on its own or at the same rate for those with TCS.
I felt the information about the jaw growing on its own in PRS is not entirely correct and I wouldn't want parents of new PRS babies reading your blog to think they don't have this to worry about when they very well might.
You have a wonderful educational blog and I appreciate all the work and information you are offering. I find it fascinating that you have compiled such an extensive site! What motivated you to do this -- was it a personal experience or are you in a medical field? I think it's wonderful whatever the reason. :) Please feel free to write me if you have any questions about what I have written here.
I will leave you with pictures of my daughter, who in these pictures is 11 yrs old and has just finished her 3rd distraction. Incidentally, with each distraction for a TCS child, the child will look this way after a successful jaw distraction but then their upper jaw/face outgrows the lower jaw pretty quickly, resulting in other jaw distractions until they are grown. This is very common in those w/TCS. For those w/PRS, sometimes one jaw distraction is enough and it keeps up with the face thereafter. I'm sure there are those w/PRS who do not require jaw distraction but the reason for my email is that jaw distraction is a very common surgery in PRS and TCS patients, and I didn't see any mention of that in your article and I wanted to give you my input. Btw, I love the colors and design you used on this site. If I were a new mother of child with an issue and I ended up on your site, I would find it so very soothing!
Sincerely,
Judy
