Pierre Robin, symptom list and genetic counseling

[Scott McNay <wizard@ba]

About two years ago I had a detached retina. After the fact, I
realized that I had been having symptoms (floaters, to be
specific) in that eye for as long as I can remember. I was told
that it was probably a result of Pierre Robin, and that it was
the last new problem that I'd likely have. It would have been
nice if I'd known before-hand that this was a possible symptom.
As a computer programmer/technician, I'm rather dependent on my
eyes, and now I have one good eye and one spare eye, as the
surgeon accurately put it.



I'm interested in seeing a complete list of known or
suspected symptoms of Pierre Robin.



I'm also interested in genetic counseling information. It's
my understanding that I had two sisters, one born before me, and
one after me, and both died shortly after birth, apparently due
to PRS-related problems. I think my mother might have had mild
symptoms, not sure. To my knowledge, no other relative on either
side has had this problem, and the family trees are fairly
well-documented.

[Anonymous]

Pierre Robin: Cleft-Links, A Wide Smiles ResourŠ

[werchy@aol.com]

Have you asked the geneticist about Sticklers Syndrome? My
daughter has Sticklers. It is believed that 30 - 40 percent of
those with PRS also have Sticklers. A detached retina is a huge
red flag for Sticklers. Please get it checked out. So many with
Sticklers do not realize they have Stickler Syndrome until they
have already lost the vision in one or both eyes. Do you have a
hearing loss? flat nasal bridge as a child? very large or
hypermobile joints? Myopia? The fact that you simply mentioned
PRS and retina detachment in the same sentence should be a
warning sign for Stickler Syndrome.

[Anonymous]

[BARB DOLKENS ADELAIDE AUS]

I WAS BORN WITH PRS (1973). CLEFT PALATE, SMALL LOWER JAW,
LATER SEVERE MYOPIA,OSTEO PROBLEMS(NOT SEVERE) AND RETINAL
DEGENERATION . WHEN I WAS 16 I SAW A GENETISIST AND WAS INVOLVED
WITH A STUDY WHICH DETERMINED THAT I HAVE STICKLERS SYNDROME.
NOONE PRIOR TO ME HAS THIS CONDITION, HOWEVER I NOW HAVE A 10
WEEK OLD DAUGHTER WITH THIS SAME SYNDROME. THE SYMPTOMS ARE
VARIED BETWEEN FAMILY MEMBERS SO IT IS SOMETIMES OVERLOOKED AT
BEING RELATED. THERE IS ALOT OF INFO ON THE W.W.W, LOOK UNDER
STICKLERS. GOOD LUCK WITH YOUR SEARCH FOR TRUTH. BARB
DOLKENS...ADELAIDE, AUSTRALIA.

[fjelde1@galenalink.com]

Our son was born with a cleft palate, small jaw, low ears,
tongue problem, club feet, obstruction of main heart vein, a hole
between the upper heart chambers and some other various
anomalies. Are all of these things related to Robin Sequence?
What is a defination of Robin Sequence? Approxmately 45% of all
males born to a 23rd X chromosome sex-linked anomaly carrier
(female) in my wife's family end up with such boys. The anomalies
have been fatal in all cases ( 11boys in 4 generations) have died
shortly after birth up to 4 months old. Does anyone have any
information about this condition. We are told the Robin syndrome
/ sequence has not been known to be passed by heretity, yet what
little I saw on the Net people have talked about having more than
one child with cleft palates, etc. We would appreciate any
information we could get on this. Thank you. Rik

[Sharon Gerfen]

Pierre Robin can be in itself the only manifestation ie. small
chin, cleft palate, and downplaced tongue, often accompanied by
breathing and feeding problems. However Pierre Robin can also be
a marker for other more formible syndromes some such as Sticklers
are manageable others have less favorable outcomes such as infant
death within the first year. I have heard of some of the symptoms
you mentioned in relationship to other syndromes where Pierre
Robin is a marker. A geneticist should be sought in my honest
opinion to determine what type of syndrome this might be.

[shaverfb.com]

Our son was born 5 months ago with a cleft palate and PRS. He
is our first child and a god send. What worries me the most is
the question of is this going to happen again? He also has a
trach in. I guess I just need help from other families that have
or are going through the same. Do the kids really have slow
learning functions like we have been told? They also told us that
it should only be one surgery needed. I would appreciate any
words of wisdom or just help to get us through this. thank you.

[shaverfb.com]

Our son was born 5 months ago with a cleft palate and PRS. He
is our first child and a god send. What worries me the most is
the question of is this going to happen again? He also has a
trach in. I guess I just need help from other families that have
or are going through the same. Do the kids really have slow
learning functions like we have been told? They also told us that
it should only be one surgery needed. I would appreciate any
words of wisdom or just help to get us through this. thank you.

[shaverfb.com]

Our son was born 5 months ago with a cleft palate and PRS. He
is our first child and a god send. What worries me the most is
the question of is this going to happen again? He also has a
trach in. I guess I just need help from other families that have
or are going through the same. Do the kids really have slow
learning functions like we have been told? They also told us that
it should only be one surgery needed. I would appreciate any
words of wisdom or just help to get us through this. thank you.

[PRS Mom]

My son was born with PRS April 26,1997. He is 22 months old
now and I have noticed no speech or learning difficulties. I,
too, wonder about the chances of Pierre Robin in future children.
I have been counseled by a geneticist who said the odds are the
same as the general population. But I have read articles that
that seem to say the opposite. I have a 'normal' son who was born
in 1992.

[Sharon Gerfen]

Pierre Robin does not mean that your child will have slower
learning difficulties. Yes it is a possibility. This would be due
to possible brain damage from lack of oxygen at anytime to the
brain.



However, the majority of PRS children have normal
intelligence and after the initial first years of concerns and
repairs go on to live happy and productive lives.



PRS babies main concerns are breathing and feeding. Depending
on the severity of the cleft of the palate it may take one or two
surgeries (generally one). Your child may also need to have tubes
placed in ears due to fluid back up which is common for cleft
palate children.



My daughter is 12 years old...an honor roll student....etc
etc etc. We still have issues of airways (she is hard to intubate
for surgeries) She has had some obstructive sleep disorders due
to enlarged tonsils/adenoids which have since been surgically
removed.



Every PRS child is different if you would like more
information check on the website for www.widesmiles.org it has a
wealth of information and there are families with children born
with PRS

[Sharon Gerfen]

Pierre Robin does not mean that your child will have slower
learning difficulties. Yes it is a possibility. This would be due
to possible brain damage from lack of oxygen at anytime to the
brain.



However, the majority of PRS children have normal
intelligence and after the initial first years of concerns and
repairs go on to live happy and productive lives.



PRS babies main concerns are breathing and feeding. Depending
on the severity of the cleft of the palate it may take one or two
surgeries (generally one). Your child may also need to have tubes
placed in ears due to fluid back up which is common for cleft
palate children.



My daughter is 12 years old...an honor roll student....etc
etc etc. We still have issues of airways (she is hard to intubate
for surgeries) She has had some obstructive sleep disorders due
to enlarged tonsils/adenoids which have since been surgically
removed.



Every PRS child is different if you would like more
information check on the website for www.widesmiles.org it has a
wealth of information and there are families with children born
with PRS

[rsgerfen@snowcrest.net]

It sounds like to me that you have Sticklers. The eye problems
along with PRS is often a strong indicator. Sticklers is an
connective tissue disease. Eye problems, hearing problems, and
arthritis problems are also part of Sticklers. You may have only
one area affected ie Eye problems. PRS is often a marker for
Sticklers I believe the percentage is 30-35 percent of
Infants/children born with PRS also have sticklers.



PRS related problems will enclude any problems that would
generally be cleft related...speech, feeding. breathing factors
ranging from needing to kept prone to having a traech in the
infant/toddler years and in older ages distructive sleep
disorders and possibilities of being hard to intubate.

[rsgerfen@snowcrest.net]

It sounds to me that you may have Sticklers Syndrome. This can
be hereditary or it may be a new mutation...however since your
sisters had PRS also I will suspect hereditary. PRS is a marker
for Sticklers. 30-35% of people born with PRS also have
Sticklers. Sticklers can affect sight--detached retinas, severe
myopia, etc. It can also affect hearing, and joints (arthritis).
You mentioned that your family tree is pretty well documented.
Are there any members on that tree that have early hearing loss
or are deaf....severe myopic problems or other eye related
problems, or any members who mave osteoarthritis or very loose
joints? I am trying to think of which type of doctor you would
need to see to dx this...A genetict could help perhaps an
immunologist or a rheumatologist...



You could research by using Sticklers as a search term. I
know that there is a help group out there that does mailings etc
etc...