Pierre Robin Syndrome, also known as Pierre Robin Sequence, is a rare disease that is characterized by facial anomalies such as a decreased jaw, a drop of the tongue to the throat, obstruction of the pulmonary pathways and a cleft palate. This disease has been present since birth.
Pierre Robin Syndrome has no cure, but there are treatments that help the individual to have a normal and healthy life.
Symptoms of Pierre Robin Syndrome
The main symptoms of Pierre Robin Syndrome are: very small jaw and receding chin, falling from the tongue to the throat, and breathing problems. Other characteristics of Pierre Robin Syndrome can be:
- Cleft palate, U-shaped or V-shaped; Uvula divided in two; Very high roof of the mouth; Frequent ear infections that can cause deafness; Alteration in the shape of the nose; Malformations of the teeth; Gastric reflux; Cardiovascular problems; Growth of a 6th finger on the hand or feet.
It is common for patients with this disease to suffocate due to obstruction of the pulmonary pathways caused by the fall of the tongue backwards, which causes the obstruction of the throat. Some patients may also have problems with the central nervous system, such as language delay, epilepsy, mental retardation and fluid in the brain.
The diagnosis of Pierre Robin Syndrome is made through physical examination right at birth, in which the characteristics of the disease are detected.
Treatment of Pierre Robin Syndrome
The treatment of Pierre Robin Syndrome consists of managing the symptoms of the disease in patients, avoiding serious complications. Surgical treatment can be advised in the most severe cases of the disease, to correct the cleft palate, respiratory problems and to correct ear problems, avoiding hearing loss in children.
Some procedures must be adopted by parents of babies with this syndrome to avoid choking problems, such as keeping the baby face down so that gravity pulls the tongue down; or carefully feed the baby, preventing it from choking.
Speech therapy in Pierre Robin syndrome is indicated to help treat problems related to speech, hearing and jaw movement that children with this disease have.
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