Pierre Robin Sequence: Symptoms, Diagnosis, and Treatment Options

Pierre Robin syndrome

Doctor, I apologize for asking you a question.
I have a prominent upper jaw, which is somewhat protruding, and when I smile, my gums show.
My lower jaw is significantly recessed, and I have no chin or cleft.
Other than that, my facial features are similar to those of an average person.
Recently, someone who is familiar with this condition mentioned it to me and said that I resemble it quite a bit.
They suggested that I get checked out.
I did some online research (but there isn't much information available).
Besides the resemblance, I also have mild sleep apnea, difficulty eating, and recurrent upper respiratory infections.
I've been worried for the past few days about whether I might have Pierre Robin syndrome, or if it's just a coincidence that I look similar.
I'm hesitant to visit a major hospital because this is a rare condition and the likelihood seems low, especially since it was just a passerby who mentioned the resemblance.
I would like to ask you a few questions:
1.
It seems that Pierre Robin syndrome is mostly seen in children.
Since I am an adult, is it possible for me to have it?
2.
Are there any other obvious characteristics of this condition? The online information mentions that limb deformities are somewhat common; what kind of deformities are we talking about?
3.
What methods are available to directly confirm whether I have this condition?
4.
If a patient with this condition undergoes orthognathic surgery, is there any financial assistance available?
Thank you for helping me clarify these concerns.

Tu Lian Ren, 20~29 year old female. Ask Date: 2011/01/18

Dr. Dai Zongyi reply Plastic Surgery

The patient presents with a long maxilla, slight protrusion, and upon smiling, exhibits gingival display.
The mandible is significantly retruded, with no chin and no cleft lip or palate.
Other facial features appear normal.
The patient experiences mild obstructive sleep apnea, feeding difficulties, and recurrent upper respiratory infections.

1.
Pierre Robin sequence primarily affects children, many of whom do not survive past infancy.
It is rare for adults to have this condition.

2.
Other notable features of this syndrome include polydactyly, syndactyly, and brachydactyly.

3.
The patient has a short mandible, lip and palate clefts, susceptibility to colds, allergies, poor appetite, a small stature, and sleep disturbances.

4.
The patient underwent orthognathic surgery without financial assistance.

Reply Date: 2011/01/18

More Info

Pierre Robin Sequence (PRS) is a congenital condition characterized by a specific set of features that can lead to various complications, particularly in infants. However, it can also present challenges in older children and adults. Your concerns about the symptoms you are experiencing are valid, and I will address your questions in detail.

1. Can adults have Pierre Robin Sequence?
While PRS is primarily diagnosed in infants, it is possible for individuals to have features of the condition into adulthood. The classic triad of PRS includes micrognathia (a small jaw), glossoptosis (a backward displacement of the tongue), and cleft palate. If you exhibit these features, even if they are not as pronounced as in infants, it is worth consulting a specialist. Adults may not be diagnosed with PRS if they do not present with the classic symptoms, but they can still experience related complications, such as obstructive sleep apnea and difficulties with feeding.

2. Other noticeable features of Pierre Robin Sequence:
In addition to the primary features, individuals with PRS may exhibit other anomalies. These can include ear deformities, facial asymmetry, and sometimes limb abnormalities. The limb deformities can vary widely, but they may include syndactyly (webbed fingers or toes) or polydactyly (extra fingers or toes). However, not all individuals with PRS will have these additional features, and the severity can vary significantly.

3. How can one confirm a diagnosis of Pierre Robin Sequence?
Diagnosis typically involves a thorough clinical evaluation by a healthcare professional, often a geneticist or an otolaryngologist (ear, nose, and throat specialist). They will assess your physical features, medical history, and any associated symptoms. Imaging studies, such as X-rays or CT scans, may be used to evaluate the jaw and airway. Genetic testing may also be considered if there is a suspicion of an underlying genetic syndrome associated with PRS.

4. Are there financial assistance options for orthognathic surgery?
Orthognathic surgery, which is often recommended for individuals with significant jaw discrepancies, may be covered by health insurance if it is deemed medically necessary. Coverage can vary based on the insurance provider and the specific circumstances of the case. It is advisable to consult with your healthcare provider and insurance company to understand the coverage options available to you. Additionally, some hospitals and clinics may offer financial assistance programs for patients who qualify.

In conclusion, while it is less common for adults to be diagnosed with Pierre Robin Sequence, it is not impossible, especially if you exhibit certain features. Given your symptoms, including sleep apnea and feeding difficulties, it is crucial to seek a professional evaluation. A multidisciplinary approach involving specialists in genetics, otolaryngology, and possibly orthodontics will provide you with a comprehensive assessment and treatment plan. Do not hesitate to reach out to a healthcare provider to discuss your concerns and explore your options. Your health and well-being are paramount, and early intervention can lead to better outcomes.

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