What is Pierre Robin Sequence?
It is a sequence of symptoms that includes:
- Micrognathia: a very small lower jaw
- Glossoptosis: downward displacement of the tongue
- Cleft palate
Understanding mouth-related symptoms and features
Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.
The mouth is a part of the GI tract of the digestive system of the body, a system that includes the mouth, esophagus, stomach, small intestine, large intestine, and anus. The digestive system is what makes it possible for the body to eat and digest essential nutrients from food.
Sometimes symptoms affecting the mouth can be seen with the eye. Although diagnosing a mouth-related symptom may involve different tests and assessments, both subjective and objective.
Symptoms relating to the mouth may affect its structure, shape, and/ or function. Some features will affect just the appearance of the mouth while others may affect its ability to function properly as a part of the digestive system.
What should I do next?
In some instances, Pierre Robin sequence may be one of the features of a rare disease or genetic syndrome. To find out if someone with Pierre-Robin sequence, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.