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How do I know if I have Pierre Robin Syndrome?

What signs or symptoms may make you suspect you may have Pierre Robin Syndrome. People who have experience in Pierre Robin Syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Pierre Robin Syndrome?

Pierre Robin Syndrome (PRS) is a rare congenital condition characterized by a combination of three main features: a small lower jaw (micrognathia), a tongue that falls back into the throat (glossoptosis), and a cleft palate. These features can vary in severity from mild to severe, and the condition may present differently in each individual.



If you suspect that you or someone you know may have Pierre Robin Syndrome, it is important to consult with a healthcare professional for a proper diagnosis. A medical evaluation is necessary to confirm the presence of PRS and to determine the severity of the condition.



Some common signs and symptoms associated with Pierre Robin Syndrome include:




  • Micrognathia: This refers to a small lower jaw, which can cause difficulty in breathing, feeding, and speaking.

  • Glossoptosis: The tongue falls back into the throat, potentially obstructing the airway and leading to breathing difficulties.

  • Cleft palate: A gap or opening in the roof of the mouth, which can affect feeding, speech, and dental development.

  • Feeding difficulties: Infants with PRS may have trouble sucking or swallowing due to the positioning of the tongue and the small jaw.

  • Respiratory problems: Breathing difficulties, such as noisy breathing or episodes of apnea (temporary cessation of breathing), can occur due to the obstruction caused by the tongue and jaw.

  • Ear infections: Children with PRS may be more prone to ear infections due to the abnormal structure of the palate and Eustachian tube dysfunction.



It is important to note that the presence of these signs and symptoms does not necessarily indicate Pierre Robin Syndrome, as they can also be associated with other conditions. A healthcare professional will consider the overall clinical picture, conduct a physical examination, and may order additional tests such as imaging studies or genetic testing to confirm the diagnosis.



Early intervention is crucial for individuals with Pierre Robin Syndrome to address the potential complications and provide appropriate treatment. Treatment options may include positioning techniques, feeding assistance, surgical interventions to correct the jaw or palate abnormalities, and ongoing monitoring by a multidisciplinary team of healthcare specialists.



If you suspect Pierre Robin Syndrome in yourself or someone else, it is essential to seek medical advice for an accurate diagnosis and appropriate management.


Diseasemaps
2 answers
You'd be diagnosed with it when you were born or soon after

Posted Sep 7, 2017 by Hailey 3200

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Stories of Pierre Robin Syndrome

PIERRE ROBIN SYNDROME STORIES
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I started this foundation to create awareness for the syndrome as my son was born with the condition in October 2008. The Story of Joshua Parkes and how this foundation came into being. Joshua was born on the 20th October 2008, the happiest day ev...
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HELLO EVERYONE MY SON WAS BORN THE 3/3/16. MY SON IS 6 MONTHS OLD ALMOST 7MONTHS OLD HE HAS MICROCEPHALY,  LARYNGOMALICA, DANCING EYES, VOCAL CORD PALSY, BRAIN ATROPHY, PRS (PIERRE ROBIN SEQUENCE) AND A HIGH PALATE, SLEEP APNEA, BREATHING PROBLEMS....
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My daughter was born with mild PRS and a cleft soft palate. 
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My son Bernard (little B) was born on Aug. 2 2014. We had no idea at time of birth that anything was wrong with him. I had a scheduled C-section for Aug. 24 but he decided to come early. As I was laying on the operating table I heard a faint whimper ...
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My daughter was born 1/12/2010 midwife led birthing center flat and unresponsive. She required cpr and quickly and immediate transfer to the neonatal intensive care unit. She was then diagnosed with Pierre robin yndrome, microcargnathia and horse sho...

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