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Pierre Robin Syndrome - Causes

Written by Dr. Kathy Jones | Medically Reviewed by Dr. Sunil Shroff, MBBS, MS, FRCS (UK), D. Urol (Lond) on Apr 20, 2016
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Causes

An exact cause cannot be pinpointed for this condition although it has been suggested to occur as a result of Autosomal Recessive Inheritance. In a variant form of the condition, several heart complications can also co-exist. When only a single defect is predominant, it is referred to as non-specific anomalad or anamoly, but it is called as Pierre-Robin syndrome when all the three malformations ( very small lower jaw, cleft palate and retroglossoptosis) are present.

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There are several theories that seek to explain why the condition occurs and among them three theories are worth mentioning:

Mechanical Theory: This theory decribes how the tongue remains in a high position in the mouth due to the failure of the formation of the lower jaw. The formation of the jaw takes place approximately between 7th and 11th week of the fetal life. Because the mandible or the lower jaw fails to grow properly, the tongue remains high in the mouth and it blocks the upper mouth plates from fusing together. This leads to the formation of what is medically called cleft palate. The mechanical theory is the most accepted one by researchers.

Neurological maturation theory: This theory postulates that there is a delay in maturity of the nerves in the tongue muscles, the palate and the pharynx.

The rhombencephalic dysneurulation theory: This complicated sounding theory refers to a disruption in the 'rhombencephalus region' of the brain as being the main cause for the syndrome, but this is not widely accepted.

References:

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Comments

anwita

My daughter is diagnosed with PRS. She has soft palate. Can any suggest where can I have best medical facilities where she can be treated?

prabhatmishra1

My daughter has been diagnosed with Pierre Robin Syndrome. She is 1 month old and is fed with Medela Special Needs Feeder. Please tell me about best medical facilities [Hospitals] in India where she can be treated for Pierre Robin Syndrome (Corrective Surgery for Chin, Cleft palate, airway obstruction).
Prabhat Mishra

Ali_xpire

my son age 14 months have a hole in his mouth upper roof please tell me there is any medicine for him or surgery is only solution

Komael_Husaini

Could anyone tell me that if I go for a cleft palate surgery at the age of 25 , then what will be the possibility of success.Also I want to tell you that because of my speech defect, I want to go for this operation.

guest

I would do it. Go to a dr specializing in this. Both my sons had theirs repaired and it worked wonderful! A doctor that does this all the time can tell you if there is a good possibility of it working.

tinagln

Please advice
on the effect of Pierre Robin Syndrome long term
Eyes, Fine Motor skills, surgery carried out later for speech
any advice appriciated

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